Winter 2011 - National Marfan Foundation

National Marfan Foundation: Education, Research and Support for the Marfan Community 

What’s Inside 

Clinical Trial Update ............3 

Social Media Campaign .........5 

Research News ...............6–8 

2010 Grant Awards ..........6 

2009 Grant Updates .........7 

MedQuest ...................10 

Board News .................13 

National Volunteer 

Network ...................16–21 

Chapter &Local 

Network Group News .....16–17 

People &Events ........18–19 

Volunteer Profile ...........20 

Research Issue 

Then and Now: The NMF Looks 

Back on30Years 

Winter 2011 

Vol.30, No.1 

It started out as asmall get-together of Marfan syndrome patients, organized bya 

young doctor who was interested in Marfan syndrome and anurse who was affected 

with the condition and held in the living room of the doctor who contributed so 

much to the understanding ofthe disorder. 

And the rest, asthey say, is history. What was started in1981 by Reed Pyeritz, 

MD,PhD, Cheryll Gasner,MN, C/FNP, andthe late Victor McKusick, MD—along 

with two other womenwith Marfan syndrome,MaryannRoney (another nurse) and 

Dawn Trump—has become ahighly recognized voluntary health organization that has 

contributedsomuch to thecareofpeople with Marfan syndrome and relateddisorders. 

Thirty years after the National Marfan Foundation was created, its impact can 

be felt throughout the Marfan syndrome and related disorders community. 

“When Ithink of the National Marfan Foundation, Ithink of the three E’s,” 

said Hal Dietz, MD, member ofthe NMF’s Professional Advisory Board since 

Continues on page 22 

8th International Symposium on Marfan Syndrome and 

Related Disorders 

Members of IFMSO with the program committee at the 8th International Research Symposium. 

Front row left toright: Lynn Sakai, PhD, Diane Rust (IFMSO England), Carolyn Levering (IFMSO, USA), 

Josephine Grima, PhD (IFMSO, USA) Catherine Boileau, PhD. Back row left toright: Dianna Milewicz, MD, PhD, 

Robin Rust (IFMSO, England), Yoko Shimozaki (IFMSO, Japan), Josipa Paska (IFMSO, Canada), 

Guillaume Jondeau, MD, Anne De Paepe, MD, PhD, Hal Dietz, MD, and Bart Loeys, MD, PhD. 

The 8th International Symposium on 

Marfan syndrome was held at theAirlie 

Center in Warrenton, VA,onSeptember 

11–14, 2010. Approximately 120 

researchers were in attendance from 

five continents. Several members of 

the International Federation ofMarfan 

Syndrome Organizations (IFMSO) were 

also represented, including those from 

the U.S. (NMF), England, Japan and 

Canada. There were 65scientific talks 

presented with several panel discussions. 

The meeting was ground-breaking in 

terms of the vast amount of research 

presented, the many avenues that are 

being investigated and the worldwide 

commitment to improving treatment 

for Marfan syndrome and related 

disorders. 

Presentations from 7ofthe 10 

countries currently conducting clinical 

trials onlosartan indicated that most 

Continues on page 21

2 

Connective Issues 

Dates &Deadlines 

January 

January 29 

January 30 

22 Manhasset Avenue, Port Washington, NY 11050 

516-883-8712 |800-8-MARFAN |www.marfan.org 


Heart of Iowa Chapter’s Drink for aCure 

OverTime Sports Hub and Grub, Urbandale, IA 

Contact: Teri Dean, 515-263-1948 or tkdean11@mchsi.com 

Massachusetts Chapter “Heart to Heart” Support Meeting 

11am, Salem, MA 

Contact: Jon Rodis, jrmarfan58@aol.com 

February: National Marfan Awareness Month ♥ 

February 26 Heartworks St. Louis, Chase Park Plaza, St. Louis 

Contact: Kristin Braun, 800-8-MARFAN,ext. 24 or kbraun@marfan.org 

March 

March 12 

March 26 

April 

April 7 

April 17 

April 30 

May 

May 7 

May 14 

May 14 

May 21 

June 

New Hampshire/Vermont Marfan Network Group Meeting 

2pm, Dartmouth Hitchcock Medical Center, Lebanon, NH 

Contact: Rene Jones, 603-769-1263 or coordinator@nhvtmarfan.org 

Northeast Indiana Network Group Meeting 

1pm, Parkview Women’s Health Center, Fort Wayne 

Contact: Ellen England, 260-925-4041 or eeengland@gmail.com 

Heartworks: The Marfan Gala, Cipriani 42nd Street, New York, NY 


Massachusetts Chapter “Heart toHeart” Support Meeting 

11am, Hanover, MA 


NMF Northern California Chapter 4th Annual Regional Marfan 

Educational Symposium, William Jessup University, Rocklin, CA 

Contact: Susan Meier, 916-632-3214 or susan.meier@starstream.net 

Chapter Quarterly Financial Form Due 

New Hampshire/Vermont Marfan Network Group Meeting 

2pm, Dartmouth Hitchcock Medical Center, Lebanon, NH 

Contact: Rene Jones, 603-769-1263 or coordinator@nhvtmarfan.org 

Heartworks Westchester: LIFE—The Place to Be, Ardsley, NY 


ACelebration of Marfan Life and History II 

Massachusetts Chapter of the NMF 


5K Run/Walk, Menlo Park/Palo Alto, CA. Time, location TBD 

Contact: Kim Fliege, 650-561-9980 or kfliege@sbcglobal.net 

June 5 NMF Northern Illinois Chapter 18th Annual Walk-a-Thon, Ty Warner 

Park, Westmont 

Contact: Bruce Klein, 630-415-0044 or bklein01@sbcglobal.net 

July 14–17: NMF 27th Annual Conference (More info onpage 4) 

For more details about upcoming events and meetings, besure tocheck 

the NMF Calendar on our website, www.marfan.org. 

More online at 

www.marfan.org 

Boards &Staff 

Board of Directors 

Jon Tullis, Chair, PA 

Gavin Lindberg, Vice Chair, MD 

Raymond Chevallier, Treasurer, NY 

Mary J.Roman, MD, Secretary, NY 

Susan Falco, Executive Committee Member-at-Large, NY 

Gary Kauffman, Executive Committee Member-at-Large, FL 

Karen Murray, Executive Committee Member-at-Large, NY 

Scott Avitabile, Member-at-Large, NJ 

Maya Brown-Zimmerman, Member-at-Large, CA 

Steven Crombe, Member-at-Large, FL 

Teri Dean, Member-at-Large, IA 

Cory Eaves, Member-at-Large, NY 

Barbara Heller, Member-at-Large, MD 

Jerry Lerman, Member-at-Large, NY 

Kathleen Mimnagh, MD, Member-at-Large, WV 

Diane M. Sixsmith, MD, Member-at-Large, NY 

Nancy Sumberaz, Member-at-Large, CT 

Benjamin Weisman, Member-at-Large, MA 

Priscilla Ciccariello, Chair Emeritus, NY 

Michael Weamer, Board Advisor, NY 

Professional Advisory Board 

Alan C. Braverman, MD, Chair, Washington University School of Medicine, MO 

Peter H.Byers, MD, University of Washington School ofMedicine, WA 

Duke Cameron, MD, Johns Hopkins Hospital, MD 

Heidi Connolly, MD, Mayo Clinic, MN 

Joseph S. Coselli, MD, Baylor College ofMedicine and St. Luke’s Episcopal Hospital, TX 

Jessica G. Davis, MD, New York Presbyterian Hospital-Weill Cornell Medical Center, NY 

Richard B. Devereux, MD, NewYork Presbyterian Hospital-Weill Cornell Medical Center,NY 

Hal Dietz, MD, Johns Hopkins Hospital, MD 

Sylvia A.Frazier-Bowers, DDS, PhD, University of North Carolina atChapel Hill, NC 

Ronald V.Lacro, MD, Children’s Hospital Boston. MA 

Irene Maumenee, MD, University of Illinois Eye and Ear Infirmary, IL 

Dianna Milewicz, MD, PhD, University of Texas Houston Health Science Center, TX 

D. Craig Miller, MD, Stanford University School ofMedicine, CA 

Reed E. Pyeritz, MD, PhD, University of Pennsylvania School ofMedicine, PA 

Francesco Ramirez, PhD, Mount Sinai School ofMedicine, NY 

David L.Rimoin, MD, PhD, Cedars-Sinai Medical Center, CA 

Lynn Y. Sakai, PhD, Oregon Health Sciences University, OR 

Paul D. Sponseller, MD, Johns Hopkins Hospital, MD 

Vincent L. Gott, MD, Johns Hopkins Hospital, MD, Member Emeritus 

Victor A.McKusick, MD (1921–2008) 

Scientific Advisory Board 

Bjorn Olsen, MD, PhD, Chair, Harvard Medical School, MA 

Craig T. Basson, MD, PhD, Novartis Institutesfor Biomedical Research, MA 

John C. Carey, MD, University of Utah Health Sciences Center, UT 

Bruce D.Gelb, M.D., Mount Sinai School of Medicine, NY 

Christine Seidman, MD, Harvard Medical School, MA 

Robert W.Thompson, MD, Washington University School ofMedicine, MO 

Richard J. Wenstrup, MD, Myriad Genetic Laboratories, Inc., UT 

Victor A. McKusick, MD (1921–2008) 

Staff 

Carolyn Levering, President &CEO 

Judy Gibaldi, Senior Vice President, Operations &Finance 

Josephine Grima, PhD, Vice President ofResearch &Government Relations 

Jennifer Buffone, LCSW, Director of Support Services &Volunteer Development 

Jennifer Grignoli, Director of Development 

Maggie Hogan, Director of Foundation Relations &Conference Planning 

Jonathan Martin, Director of Education &Awareness Programs 

Eileen Masciale, Consulting Director of Communications, Newsletter Editor 

Brian Polk, Director of Information Technology 

Cathie Tsuchiya, Administrative Director &Local Fundraising Coordinator 

Kathy Jeffers, Manager of Volunteer Development 

Amy Kaplan, RN, Manager, Information Resource Center 

Alexandra Dubow, Design &Production

By Hal Dietz, MD, and Ron Lacro, MD, 

Co-Principal Investigators 

On behalf of the National Heart, Lung, and Blood Institute, 

the Pediatric Heart Network, all the clinical trial enrollment 

sites and the National Marfan Foundation, we would like to 

extend our sincere thanks to all those in the Marfan community 

who have enrolled in the clinical trial. Weare pleased to 

announce that enrollment in the clinical trial will close early 

in 2011, as soon as the 604 target enrollment is reached. We 

are indebted toall those who have selflessly agreed to participate 

in the study tohelp the medical community investigate 

new therapies that have the potential to change the traditional 

medical management for individuals affected with this syndrome. 

Wedeeply appreciate the efforts of those who have 

traveled long distances to participate. Marfan syndrome is 

now being hailed as amodel for rare disease research and a 

prime example ofsuccessful translational research. It is only 

with the help of all those committed tothis disease that we 

were able tohelp make this happen. 

The clinical trial on people with Marfan syndrome began 

in 2007. It is based on research that showed that adrug 

known as losartan prevented aortic enlargement and other 

Marfan features inmice that have Marfan syndrome. The 

clinical trial is studying two drugs, atenolol and losartan, to 

see which one is better atslowing aortic growth. Italso looks 

for and compares any side effects that can happen when a 

person takes either drug. Arandomized trial is the only way 

to knowwhether or not losartan is more effectivethanatenolol 


As Clinical Trial Enrollment Ends, Two New 

Ancillary Trials Start 

Gabriella Earnhart, age 6, of Chicago, IL, who participated in the clinical trial at 

Children’s Memorial Hospital. 

(or vice versa) inpeople with Marfan syndrome and whether 

or not specific subgroups will dobetter orworse on one 

medication oranother.The end of the enrollment period 

indicates that we now have afirm timeframe for results ofthis 

trial to be released; this will happen in 2014.Those patients 

who enrolled during the first year are already ending their 

time in the study. However, those who have just been enrolled 

need to be followed for three years before all the data can be 

analyzed. 

Although enrollment will close soon, we are still striving 

to make the most of this trial.Therefore, with the financial 

support of the NMF Research Program, we are proud to 

announce two new ancillary studies that will beavailable to 

trial participants at their next visit. The first ofthe two studies 

will evaluate quality of life for children and young adults with 

Marfan syndrome. Abetter understanding ofthe influences 

of medical severity, medical intervention and family dynamics 

on quality of life will lead tomore effective clinical management 

and improved outcomes for patients. The second 

ancillary study will determine ifcirculatingTGF-ß blood 

levels can belinked with clinical outcomes such as achange 

in aortic root Z-score, final aortic root dimension or final 

aortic root Z-score. Circulating TGF-ß levels could, intheory, 

allow for more precise tailoring oftherapeutic procedures to 

the individual.Therefore, positive results ofthis study could 

ultimately translate to clinical care. We hope that wecan 

count on the trial participants to enroll in these studies during 

their next visit. 

Finally, wewould like to thank all of the partners that 

have provided support to help make this trial successful. 

This includes the National Heart, Lung, and Blood Institute 

along with the Pediatric Heart Network, which has not only 

provided the financial resources to make this study apossibility 

but also has provided the structure and guidance to 

help make the trial successful. We would like to thank the 

New England Research Institute for its dedication tomanaging 

the day-to-day activities ofthe trial. Weare also grateful 

to the American Heart Association, Office of Orphan Drug 

Products ofthe FDA, Almac, Merck, Novopharm, National 

Marfan Foundation and the generous donors tothe NMF 

who have all contributed tothe success of this trial. 

We look forward tocompleting the last three years of 

follow-up inthis trial and tothe answers toimportant questions 

that it will provide. Weapproach this ongoing effort 

to identify new and perhaps even better treatment options 

for Marfan syndrome with pride in our community and 

confidence that our shared goals are within reach. 

Volume 30, No. 1 3

4 


Save the Date and Celebrate! July 14–17, 2011 

The NMF is thrilled to bring the 

27th Annual Conference on 

Marfan Syndrome and Related 

Disorders to Portland, OR, where 

it will beco-hosted by the Oregon 

Health &Science University and 

Shriners Hospital, aspecialty 

orthopedics hospital in the Shriners 

Hospitals for Children system. 

Conference activities will take 

place at the Marriott Downtown 

Portland hotel, conveniently located 

near restaurants and shopping with 

access to riverfront parks and activities. Portland, which is one 

of the leading cities inthe U.S. for its natural beauty and 

bustling local scene, will beawelcoming city for the Marfan 

community this summer. 

Lynn Sakai, PhD, amember ofthe NMF’s Professional 

Advisory Board who isSenior Investigator at Portland Shriners 

Research Center and Professor of Biochemistry &Molecular 

Biology at Oregon Health &Science University, isworking 

with the NMF to organize an outstanding program for the 

conference. Dr. Sakai is well-known for her ground-breaking 


NMF Launches Teen Council 

In recognition ofthe important contributions of the NMF’s teen 

members,the NMFhas launched aTeen Council,asubcommittee 

of the Support and Volunteer Development Committee of the 

NMF’s Board ofDirectors. Teens who have demonstrated leadership 

qualities were asked to apply to become members of the 

Teen Council; eight were subsequently appointed. 

Members of the Teen Council will assist the NMF by: 

• Organizing education and awareness activities 

• Organizing fundraisers to benefit the NMF and its local 

Chapters and Network Groups 

• Developing content for the Teen Space onthe NMF website 

• Assisting teen mentors in planning the teen program for 

the NMF’s Annual Conference 

• Welcoming new teens who become members of 

NMFconnect, the NMF Facebook page, and local NMF 

groups and engaging them in the teen Marfan and related 

disorders community. 

The inaugural members of the Teen Council, who will each serve 

atwo-year term, are: Peter Donato (15), Massachusetts, Lisa 

Dubin (18), Geneva,Switzerland, Laurel Giacone (16), Louisiana, 

Meaghan Joyce (15), New Jersey, Chester Oats (18), North 

Carolina, Daniel Peters (16), Tennessee, Kaitlyn Smart (15), 

Texas, and Michelle Smith (18), Maine. 

Carolyn Levering, NMF President and CEO, and Kathy Jeffers, NMF manager of Volunteer 

Development, met with the Eugene (above) and Portland (top) Network Groups 

last Fall to discuss conference plans. 

discovery of fibrillin in1986. 

The year 2011 marks anumber ofnotable events. Join 

us July 14–17 to celebrate the 25th anniversary ofDr. Sakai’s 

discovery and the 30th anniversary ofthe National Marfan 

Foundation. Other conference activities include: 

• Workshops and medical presentations by world-renowned 

doctors and researchers 

• Free medical assessment at the Marfan Clinics at the 

hospitals (by appointment, limited availability) 

• Special fun-filled and educational programming for 

children and teens. 

• New Young Adults Program with aspecial workshop 

track and social activities throughout the weekend 

• Opportunities toshare experiences with others in 

the supportive environment that is unique to NMF 

conferences 

Look for informationonconference programs,registration and 

hotel reservations on the NMF web site at www.marfan.org 

in February.

NMF Launches Social Media Campaign 

Last year, the Social Security Administration (SSA) asked the 

Institute of Medicine (IOM) toform acommittee toperform 

afocused review ofthe medical literature to determine the 

latest standards of care, the latest technology for the understanding 

ofdisease processes, and the latest science demonstrating 

the effect of cardiovascular disorders on patients’ 

health and functional capacity.The primary purpose of the 

committee was to make concrete recommendations that are 

designed to improve the utility of the Cardiovascular Listings 

for evaluating cardiovascular disability claims by improving 

the sensitivity and specificity of the listing criteria to identify 

individuals who meet SSA’s definition ofdisability. 

In December 2009, Josephine Grima, PhD, NMF Vice 

President of Research and Legislative Affairs, testified before 

the committee outlining issues facing people with Marfan 

syndrome. She stressed that Marfan syndrome renders some 

patients disabled not only because of an aortic aneurysm or 

dissection, but also because of functional limitations resulting 

from weakness due tomultiple aortic surgeries; degeneration 

of the bones and joints; visual problems associated with dislocation 

oflenses; back pain; headaches; and difficulty moving 

the lower extremities because of dural ectasia. In addition, she 

noted that thereare absoluteand relativecontraindications and 

restrictions placed on certain physical activities and workloads 


The NMF has launched its 

coverageintraditionalmedia 

first social media campaign 

outlets, both on television 

to raise awareness of the 

andinprint, that hasreached 

need for early diagnosis of 

millions of people with 

Marfan syndrome. The 

Marfan syndrome diagnosis 

campaign, which isbeing 

and treatment information,” 

implemented by West Glen 

said Eileen Masciale, 

Communications, consists 

Consulting Director of 

of banner ads for websites, 

Communications for the 

aplayer window featuring a 

NMF. “Because of the CDC 

newMarfansyndromepublic 

grant, we can now leverage 

service announcement, a 

social media release and 

Frames from the animated banner ad that is part ofthe new campaign 

new media opportunities 

online and extend our edu- 

outreach tobloggers. The campaign launched in December cation messages further. Our goal istohelp people get diag- 

to coincide with the heavy internet usage that accompanies nosed earlysothey canget thetreatment they need to live a 

holiday shopping. 

normal lifespan.” 

Funding for the social media campaign was provided by To view the new social media release, go to: 

theU.S.Centersfor Disease Control and Prevention (CDC), http://www.marketwire.com/press-release/Marfan-Syndrome- 

which awarded $250,000 to the Foundation for education a-Frequently-Undiagnosed-Genetic-Disorder-1368505.htm 

and awareness about Marfan syndrome to thegeneral public Visit the NMF website in 2011 to find out how the 

andthe healthcare community. 

NMF is reaching doctors with information about the revised 

“We have been very successful over the years in securing diagnostic criteria on Marfan syndrome. 

Institute of Medicine Publishes Recommendations for Updating the 

Social Security Administration’s Cardiovascular Listing of Impairments 

because of the risk ofundue stress on the aorta (for the full 

NMF public comment, visit www.marfan.org, click on Get 

Involved and then go to the Advocacy tab.) 

In August, the IOM published its findings in areport. 

In this report,the IOM specifically includes informationabout 

the disease process in connective tissue disorders such as 

Marfan syndrome and Loeys-Dietz syndrome. The report 

makes several recommendations for improving the cardiovascularsystemlistings, 

includingarecommendationthatpatients 

should be evaluatedfor chronicdisablingsymptoms duetothe 

aneurysm ordissection which can bethe result of the function 

impairment of the heart, brain, peripheral nerves orlimbs. 

With the IOM recommendations in-hand, SSA will begin 

to undertake the formal process of updating the cardiovascular 

disability guidelines. 

“We hope that these recommendations will result in 

changes to the cardiovascular listing ofimpairments that will 

improve SSA’s capacity to determine disability benefits more 

quickly and efficiently for people in the Marfan community,” 

said Dr. Grima. 

To viewthe IOM report,please visit: http://www.iom.edu/ 

Reports/2010/Cardiovascular-Disability-Updating-the-Social- 

Security-Listings.aspx 

Volume 30, No. 1 5

6 


2010 NMF Research Grant Award Recipients 


Alison Frand, PhD, 

David Geffen School 

of Medicine, UCLA 

$100,000, two-year 

grant award 

Daniel Rifkin, PhD, 

New York University 

School of Medicine 

$50,000, one-year 

grant award 

Mark E. Lindsay, MD, 

PhD, Johns Hopkins 

University School of 

Medicine 

$100,000, two-year 

Fellow-to-Faculty 

Transition Award 

Ron V.Lacro, MD, 

Children’sHospital 

Boston 

$100,000, four-year 

Ancillary Study Grant 

Hal Dietz, MD, Johns 

Hopkins University, and 

Ron V.Lacro, MD, 

Children’sHospital 

Boston 

$40,000, three-year 

Ancillary Study Grant 

Regulation of the Fibrillin-like FBN-1 Protein in C. elegans. 

Our laboratory proposes to use anew animal model tostudy fibrillin-1 inbiological 

structures. The study will bedone in C. clegans (earthworm) which shares 

anatomical and biochemical featureswith human connectivetissue. Ourlaboratory 

will investigate the assembly and disassembly offibrillin-1 during the molting 

process to identify genes which can modify expression of fibrillin-1. These modifier 

genes may alter the expression of fibrillin-1 and result in the variability of characteristics 

found in families. Given the strength ofthe genetics inC.elegans and 

the molecular techniques available, this study will help improve the basic 

understanding of the protective role offibrillin-1 in the maintenance and 

repair of connective tissue. 

Matrix Hierarchies inMarfan Syndrome and Related Disorders 

Our laboratory proposes to investigate amodified theory for how the proteins in 

the extracellular matrix are organized and how defects lead toMarfan syndrome 

in some and not in others. We propose that latent binding protein 4(LTBP-4) 

is akey modulator for the organization ofthe matrix and works together with 

fibrillin-1. We propose to generate two new mouse models to test our theory. 

This project may yield important insights into the organization ofthe elastic 

matrix and provide information for the development of new therapies. 

Abberant Second Heart Field (SHF) Development Underlies Proximal Aortic 

Aneurysm in Marfan Syndrome 

Thegoalofour studyistoinvestigate thedevelopmental originsofaorticaneurysm. 

Recently it has been discovered that the proximal aorta, the region predisposed to 

enlargement in Marfan syndrome, develops from anewly discovered heart field 

(partofthe embryo destined to becomethe aorta), termedsecond heart field (SHF). 

The major question tobeaddressed in this study iswhether or not disruption of 

TGF-ß signaling in SHF cells, caused by fibrillin-1 deficiency, specifically acts to 

initiate aortic enlargement in utero. The inhibition ofthis process may prove 

to be aunique clinical strategy and may help to discover new therapeutic 

targets for patients with these disorders. 

Marfan Quality of Life Ancillary Study, AnAncillary Study to the PHN 

Marfan Trial of Beta Blocker Therapy (Atenolol) vs. Angiotensin II Receptor 

(Losartan) in Individuals with Marfan Syndrome 

The aim of our study istoevaluate quality of life (QOL) of children and young 

adults with Marfan syndrome.The clinical trial provides aunique opportunity 

to assess QOL in children and young adults with Marfan syndrome. Abetter 

understanding of the influences ofmedical severity, medical intervention 

and family dynamics onQOL, will lead to more effective clinical management 

and improved outcomes for Marfan syndrome. 

Circulating TGF-ß Levels in Marfan Syndrome 

The aims of our ancillary study are to determine ifcirculatingTGF-ß blood levels 

correlate with clinical outcomes within atreatment group or independent of 

treatment group, e.g., change in aortic root Z-score, final aortic root dimension, 

final aortic root Z-score, and other clinical outcomes in the Marfan syndrome 

trial. Positive results of this study could ultimately translate to clinical care; 

circulatingTGF-ß levels could, in theory, allow for more precise tailoring of 

therapeutic procedures to the individual.

2009 Grant Award Updates 

Joseph Coselli, MD, 

Baylor College of 

Medicine 

$100,000, two-year 

award 

Suneel Apte, PhD, 

Cleveland Clinic 

$50,000, one-year 

grant award 


Aortic Valve Sparing Operative Outcomes in Patients with Marfan Syndrome 

This prospective, internationalregistry studywas startedinMarch 2005 to compare 

the results ofAVR (aortic valve replacement) and AVS(aortic valve sparing) operations. 

In December 2010, our study met its enrollment target of 316 patients. 

We are currently applying for NIH funding to obtain continued support for a 

five-year follow-up onall study patients enrolled. Twenty leading international and 

U.S. clinical centers specializing inaortic root surgery have combined their efforts 

to conduct this research. Our study will help to determine whether survival and 

freedom from valve complications are similar after AVS and AVRroot procedures 

in patients with Marfan syndrome by enabling anaccurate comparison of the 

two types ofoperations. Factors that influence these outcomes will beidentified 

for both surgical procedures. The results will help surgeons select the best type 

of root operation for their patients. 

ADAMTSL4, Fibrillin-1 and Ectopia Lentis 

Ectopia lentis, orlens dislocation without other features ofMarfan syndrome, 

can becaused by fibrillin-1 mutations or agene known as ADAMTSL4.This 

suggests that ADAMTSL4 may be related to fibrillin-1. We investigated the 

possibility that ADAMTSL4 may have arole in the formation ofthe zonule. The 

zonule is formed byassembly ofmicrofibrils made of fibrillin-1 and we therefore 

asked whether the presence of ADAMTSL4 enhanced the formation of fibrillin-1 

microfibrils. Our studies showed that ADAMTSL4 accelerated the formation of 

fibrillin-1 microfibrils. Furthermore, ADAMTSL4 was also located inthese fibrils. 

These studies suggest that ADAMTSL4 is awidespread component of the eye 

with arole in fibrillin-1 microfibril assembly. Investigating this relationship 

could, in the long term, be beneficial for understanding and treating lens 

dislocation that occurs in Marfan syndrome, in addition todetermining the 

basis for aMarfan-related disorder. 

Participants Needed for Marfan Eye Study 

Continues onpage 8 

Dr. Hal Dietz and his colleagues at Johns Hopkins University are investigating the eye problems in people with Marfan 

syndrome, and whether or not any currently available medications help with these problems. They are interested in hearing 

from people with Marfan syndrome of any age who have significant eye problems and those who do not. This will help them 

get abetter understanding of the types and frequencies ofeye problems in Marfan syndrome. 

The study requires filling out ashort questionnaire about your medical diagnosis, eye history, medications and past/current 

eye physicians. The questionnaire should take about 10–20 minutes of your time, depending onyour personal history. A 

consent form and medical release form is also included. Records will be obtained from your past/current eye physicians, soif 

you donot know exact details of your eye history, it is not aproblem. 

If you are interested in participating, please email the team at MarfanEyeStudy@jhmi.edu. They will send you acopy ofthe 

questionnaire, consent form and medical release form. Youcan also email them with any questions about the study. 

Pleasenotethat patientswho arecurrently enrolled in the losartan-atenolol clinical trialare not eligible forthis study because 

their medication type is unknown. 

Volume 30, No. 1 7

8 


2009 Grant Award Updates continued from page 7 

McKusick Fellowships 


Jefferson Doyle, 

MBBCHIR, MHS, 

MA, Johns Hopkins 

Hospital 

$150,000, two-year 

grant award. 

Christine Papke, PhD, 

The University of Texas 

Medical School at 

Houston 

$100,000, two-year 

grant award. 

The Benefits of Antagonizing ERK Signaling to Modify the Pathogenesis of 

Marfan Syndrome 

The goals of our two year study were toinvestigate whether or not asignaling 

pathway known as ERK signaling is critically involved in Marfan syndrome and 

to determine ifany clinically available drugs which affect this pathway may offer 

new therapeutic options for patients with the disease. During the first year of 

funding, we gathered more evidence indicating the ERK signaling does indeed 

correlate with aortic disease in Marfan syndrome. Drugs that fail to reduce aortic 

growth in Marfan mice (such as the ACE inhibitor enalapril) fail to reduce ERK 

signaling. Drugs that cause areduction inaortic growth in Marfan mice (such as 

TGF-ß neutralizing antibody or losartan) show avery pronounced reduction in 

ERK signaling. We are currently assessing the effect of genetic elimination ofERK 

signaling in Marfan mice. Finally, anin-vivo trial with an FDA-approved and 

clinically-available drug that has been shown to reduce ERK signaling is underway 

in our Marfan mouse model, and weawait to see whether or not this may offer a 

new therapeutic strategy, either as astand-alone agent or by co-administration 

with losartan. This study will determine ifany clinically available drugs may 

offer new therapeutic options for patients with the disease. 

Molecular Pathogenesis in Mouse Models of Thoracic Aortic Aneurysm and 

Dissections 

One ofthe goals of our study istocompare the signaling mechanisms ofthoracic 

aortic aneurysm mice toMarfan mice and determine ifthe cell signaling pathways 

involved are the same or different. Structural comparison of the aortas ofthese 

mice indicated major differences in that thoracic aortic aneurysms show aortic 

wall thickening and smooth muscle cell (SMC) accumulation rather than aortic 

degradation asseen in Marfan mice. Therefore our laboratory focused studies on 

activators of SMC accumulation. Our data indicated that insulin-like growth 

factor-1 (IGF-1) expression is increased in thoracic aortic aneurysms but this 

expression is not blocked by receptors specific for this growth factor suggesting 

that there are yet other pathways more important indriving SMC accumulation 

in this model. The development of anew mouse model with amutation inthe 

actin gene is currently being developed as planned. Once the mechanism of how 

aneurysms form inthese FAA mice isunderstood, drugs can bedeveloped to 

block the processes that cause disease. 

NMF Research Drive 

This year, the NMF invested upwards of$1million for both basic and clinical research. These funds are designated 

formajor research initiatives supportedbythe NMF—such as the clinicaltrial and its ancillary studies and themulti- 

center study onaortic surgery (valve-sparing vs. valve replacement)—as well asfor the NMF’s extensive research 

grant program. The cost of the research program is more than the cost of any other NMF initiative. We must 

continue themomentuminMarfan syndrome research. Pleasegivegenerously to the NMF ResearchDrive to help 

maintain and expand this program that has brought us so much and promises even more in the future.

Coping: Managing Physical Activity 

Getting aMarfan syndrome diagnosis (or adiagnosis for a 

related disorder) does not mean that you are doomed to a 

sedentary lifestyle. In fact, some degree of physical activity is 

important for everyone to maintain and improve overall 

physical and mental health. 

While adults who are newly diagnosed are usually able 

to reconcile the need to modify their exercise, it is agreater 

concern toparents who have achild who isnewly diagnosed. 

Guiding Children with Marfan Syndrome 

Sports are abig part ofchildhood 

in many families. Being part ofa 

team helps develop social skills and 

self-esteem. Itisunderstandably 

frustrating orupsetting for children 

who suddenly have physical activity 

restrictions (and for their parents), 

particularly ifthe child already has 

apassion or talent for aparticular 

sport. 

However, the guidelines for 

people with Marfan syndrome are 

clear: no competitive orcontact 

sports that would put added stress 

on the aorta leading tofurther 

enlargement, cause chest or eye 

trauma, or be potentially damaging 

to loose ligaments and joints. 

When children are diagnosed at 

averyyoung age, parentscan provide 

guidance for activities that will be 

appropriate for the long-term. Golf, 

bowling, archery, piano, art, music— 

activities such as these can provide 

an outlet for creativity and competition, 

while still providing for the interaction and socialization 

achild needs. It’s not that youth soccer is dangerous for 

children with Marfan syndrome; aortic dissection inayoung 

child with Marfan syndrome is very rare. However, youth 

soccer leads to more competitive soccer in middle school and 

beyond. Asking achild to give up asport at that point has 

more implications that at first meets the eye; the child would 

have to give up his/her social circle and may question his/her 

self-esteem, inaddition togiving upasport he/she has 

developed alove for. 

When adiagnosis ismade when someone is on an athletic 

scholarship incollege, the new physical activity restrictions 

can beparticularly devastating and life-altering. Yet, the 

alternative can be deadly. 

Madeline Balka, who was diagnosed with Marfan syndrome at the age of 

three, playing flute inthe marching band for Hononegah High School in 

Rockton, IL. Said Madeline, now 15, “I absolutely love being in high 

school band and am really glad Iwas restricted from sports otherwise I 

would have never found myfavorite hobby!” 


For those who are having adifficult time adjusting tothe 

restrictions or who become depressed about the modifications 

they must make totheir lifestyle, speaking with atherapist 

can behelpful. 

What if Marfan Syndrome is Suspected? 

For those who have adiagnosis ofMarfan syndrome, but who 

do not currently have aortic enlargement, there isageneral 

rationale for following the physical guidelines. Marfan 

syndrome is progressive innature and aortic enlargement 

can develop over time. When 

Marfan syndrome or arelated disorder 

is suspected, but has not been 

firmly diagnosed, the issue of 

whether or not to followthe physical 

activity guidelines is particularly 

confusing. The NMF recommends 

sharing with your cardiologist the 

physical activity guidelines, developed 

by the Professional Advisory Board, 

and reviewing with your own doctor 

what would be considered safe for 

you. Among the factors that are 

generally taken into account in 

determining which activities are safe 

and which are not are: how strongly 

adiagnosis issuspected; whether or 

not there isfamily history of Marfan 

syndrome/relateddisorderorafamily 

history ofearly cardiac death; the 

ageofthe person andlevel of activity 

planned. 

Support isAvailable 

Your child with Marfan syndrome is not alone. There are so 

many others who are also making adaptations and choosing 

different activitiesbased on theirdiagnosis. TheNMF’s annual 

conference is agreat place for children and teens to bond, 

however, there are other options if you are unable totravel 

to the conference site. Agood place tostart isthe Teen Space 

on the NMF website. Your teen can also join the teen group 

on the NMF’s own social network, NMFconnect (accessible 

through www.marfan.org). Parents who want todiscuss this 

issue with other parents can also find an appropriate group on 

NMFconnect. Your doctor is the best source of customized 

information for your child, but you can contact the NMF 

Information Resource Center (800-8-MARFAN) if you have 

general questions about the physical activity guidelines. 

Volume 30, No. 1 9


MedQuest: Marfan Syndrome and Life Expectancy 

In 1995, apaper published in the American Journal of 

Cardiology showed that the median cumulative probability 

of survival (the age at which 50% of people with Marfan 

syndrome are predicted tobealive) has risen from 49 to 74 

years for women and from 41 to 70 years for men inthe 

past 32years, a25percent increase. 

However, if someone with Marfan syndrome is not 

diagnosed or not treated appropriately, they might as well 

still beliving inthe year 1970. 

What does it take tomaximize your life expectancy if you 

have Marfan syndrome?This Medquest column focuses on 

what you can do to take control ofyour Marfan syndrome 

and help avoid atragic situation. 

What were the main reasons for the increased 

life expectancy reported in the journal article? 

According to the study, reasons for the increased life 

expectancy include: 

• Advanced cardiovascularsurgery, both prophylactic (before 

there isaproblem) and emergent (when there isan 

emergency situation).This relates toseveral conditions 

caused by Marfan syndrome, most notably aortic and 

mitral regurgitation, aortic aneurysmand aortic dissection. 

• Increased options in medical therapy, including beta 

blockers todelay aortic enlargement 

• Greater proportion ofmilder cases due toincreased 

frequency of diagnosis. 

• Overall improvement in the life expectancy of the 

general population. 

In addition, greater awareness of Marfan syndrome leads to 

people getting diagnosed earlier, which enables them to 

manage the condition before anemergency situation—such 

as an aortic dissection—happens. 

10 Winter 2011 

What can Ido to try toprevent an aortic 

dissection? 

Drug therapies. Beta blockers remain the gold standard for 

slowing the progression of aortic enlargement in Marfan 

syndrome. Beta blockers dohave some side effects, but the 

dosage can beadjusted to minimize them. Keep talking to 

your doctor to reach the best dosage for you—one that 

controls your blood pressure and heart rate and does not 

produce side effects that interfere with your quality of life. 

Regardless of whichmedicationyour doctor prescribes, be sure 

to takethe medicationeachday as writtenonyour prescription. 

There isemerging data about the use of angiotensin receptor 

blockers (such as losartan) inMarfan syndrome, and this is 

being evaluated inseveral ongoing studies. For patients unable 

to takebetablockers, these medications areoften chosen. 

Monitoring the aorta regularly iscritical 

Monitoring the aorta. Itiscritical that your aorta ismonitored 

regularly with the correct imaging technique to watch 

its size and function. The imaging techniques that effectively 

evaluate the aorta are: 

• Echocardiogram, which shows all the heart structures 

including valves and the part ofthe aorta closest to the 

heart. 

• MRI or CT scans, which show all segments ofthe aorta. 

• TEE (rransesophageal echocardiogram), which isatype 

of echocardiography that shows the ascending and 

descending thoracic aorta inaddition tothe heart valves. 

Early diagnosis isthe first step to effective medical management Continues on opposite page

Marfan Syndrome and Life Expectancy continued from opposite page 

The general recommendation istoget aCTscan orMRI scan 

when you are first diagnosed to get abaseline image ofall 

segments ofyour aorta, then an echocardiogram (echo) at 

least once ayear. Your doctor may want you to have more 

frequent echos (such as every six months) depending onyour 

family history, the current size ofthe aorta and the rate at 

which your aorta may be growing. 

Surgery. Most people with Marfan syndrome who have aortic 

problems can prevent apotentially serious situation byhaving 

aplanned surgery before there isanaortic dissection orother 

life-threatening problem.The doctor will make arecommendation 

for surgery based on the results ofthe annual (or more 

frequent) echocardiogram. When planning for surgery, it is 

important to seek out asurgeon who isexperienced with 

operations on people with Marfan syndrome. Because of their 

experience, they are more likely to be able tohandle any 

complications that result from the surgery. In general, when 

the aorta reaches 5cmindiameter, elective aortic surgery is 

recommended. In some individuals, prophylactic surgery is 

performed when the aorta is less than 5cm. 

It is critical to remember that, while having aortic 

surgery prevents atear in the aorta where the repair 

was done, the rest of the aorta is still at risk. 

Therefore, itisvital that even after surgery people 

with Marfan syndrome continue taking medication as 

prescribed by their doctor, continue to have their 

aorta imaged to monitor the thoracic and descending 

aorta, and continue to modify their exercise. 

Exercise in moderation. Exercise isimportant for people with 

Marfan syndrome. Among its benefits, exercise instills asense 

of physical and psychological well-being, improves exercise 

endurance, lowers blood pressure, reduces weight, regulates 

metabolism and gastrointestinal function, and increases bone 

density and physical strength. However, there are exercise and 

physical activity guidelines for people with Marfan syndrome. 

They should: 

• Avoid contact sports because of the risk ofdamaging 

the aorta and injuring the eyes. 

• Avoid strenuous activities because of the stress placed 

on the aorta. 

• Take precautions even while participating inlowintensity, 

non-contact activities. For example, do not 

carry aheavy bag of golf clubs and avoid intense 

competitive efforts. 


Exercise in moderation 

It is important to remember that every activity has gradations, 

and norecommendation holds inall circumstances. For 

example, shooting baskets inthe driveway is different from 

playing afull-court basketball game, and bicycling 10 miles 

in one hour on alevel course is different from competing in 

atriathlon. Before starting any exercise regimen, talk toyour 

doctor about physical activities, and specific activity levels, 

to make sure you are being safe. 

Once you have had aortic surgery, can you 

resume normal activities? Does surgery “cure” 

you ofthe aortic problems associated with 

Marfan syndrome? 

Surgery cannot be seen as acure! In most people with Marfan 

syndrome, the first part ofthe aorta, closest to the heart, is 

at the greatest risk oftearing, expanding and rupturing soit 

is beneficial to have this surgery before one of these events 

happens. It is critical to remember that, while having aortic 

surgery prevents atear inthe aorta where the repair was done, 

the rest of the aorta is still atrisk. Therefore, it is vital that 

even after surgery people with Marfan syndrome continue 

taking medication asprescribed by their doctor, continue to 

have their aorta imaged to monitor the thoracic and descending 

aorta, and continue to modify their exercise. It is possible 

to require surgery (even several surgeries) in other parts of 

the aorta at alater date. 

Volume 30, No. 1 11

12 


What Is aConnective Tissue Disorder and 

How DoIGet One? 

Sometimes medical terminology evolves in ways that lead to 

more confusion, not less. Through no one’s fault, two entirely 

different groups ofconditions have been called ‘connective 

tissue disorders’ or, occasionally, ‘collagen disorders.’ Inthis 

article we aim to set the record straight. 

First, what is connective tissue? Simply put, the scaffolding 

ofthe body (bones, ligaments, tendons, and cartilage) is 

primarily connective tissue. But connective tissue is present 

everywhereand servesasthe ‘glue’thatholdscells together and 

providesthe strengthand elasticity of blood vessels. Connective 

tissue is composed of hundreds of different molecules. Some 

are more predominant than others, such as the many different 

collagens that provide strength, elastin that provides elasticity, 

and the components ofthe microfibrils, such as the fibrillins, 

that perform awide variety of functions. Connective tissue 

has roles that might seem quite unusual ifyou only think in 

terms of bone and cartilage. For example, the jell-like center 

of the eye, which transmits light, ispure connective tissue. 

And connective tissue does not just sit there, it has important 

functions in regulating growth and directing how primitive 

cells in theembryo develop into mature cells in specificorgans. 

If you are born with achange (mutation) in agene that 

specifies one of the hundreds of components ofconnective 

tissue then you likely will have what istermed a‘heritable 

disorder ofconnective tissue (HDCT).’ Examples are Marfan 

syndrome, the Ehlers-Danlos syndromes, osteogenesis imperfecta, 

pseudoxanthoma elasticum, and more than 200 others. 

Some are inherited asautosomal dominant traits, meaning 

that only one copy ofthe gene needs tobealtered, while 

others are recessive in that amutated gene has tobeinherited 

from both parents. Afew are primarily found in men because 

the gene is on the X-chromosome. Adominant condition 

like Marfan syndrome can arise because the mutation inthe 

fibrillin-1 gene is inherited from one parent, orbecause the 

mutation arose in either the egg or the sperm that led to the 

person’s conception. There can be great variation in how any 

HDCT affects aperson, mainly because different mutations 

can produce the condition, but environmental factors can 

also play arole. The diagnosis of most HDCT can be made 

based on signs and symptoms, but genetic testing has an 

important role for many ofthem. 

The other major category ofconnective tissue disorders 

includes conditions such as lupus erythematosus, rheumatoid 

arthritis, scleroderma and polymyositis.These conditions are 

usually diagnosed and managed by arheumatologist.This has 

led to abetter categorization than ‘connective tissue disorders,’ 

the rheumatologic disorders. Among the 80orsoconditions 


Marfan syndrome is one of hundreds of heritable disorders of connective tissue. 

in this group is one called ‘mixed connective tissue disorder’ 

that shares features oflupus, scleroderma and polymyositis. 

These conditions certainly have some genetic predispositions, 

so several affected individuals can be found in the same family, 

and women are more frequently affected, but they usually 

are not inherited insuch astraightforward manner as the 

HDCT.The underlying problem in this group of disorders 

is inflammation ofthe connective tissue. In many cases, this 

arises from thebody’sdefenses attacking itself (autoimmunity). 

Because of where connective tissue is most common, many 

of these disorders have serious consequences in joints, blood 

vessels and skin, but inways distinctly different from how 

these tissues are affected in the HDCT.These conditions are 

almost never present at birth and rarely appear in childhood. 

Most develop in early- to mid-adulthood.The diagnosis of 

these conditions also depends onsigns and symptoms, aswell 

as on blood tests that look for evidence that the immune system 

isattacking cells. Tests for mutations in DNA are rarely 

important. In the past few years, new therapies (antibodies 

that need to be injected and block the action ofthe body’s 

immune system) have emerged that effectively treat some of 

these conditions. 

There isnoreason that aperson with Marfan syndrome 

could not develop one of these rheumatologic connective 

tissue disorders, such as lupus. But people with aHDCT are, 

in general, not more prone to these other connective tissue 

disorders. However, there isintriguing new evidence that 

people with Loeys-Dietz syndrome, one of the HDCT, are 

more prone to some auto-immune conditions, but not the 

ones considered here.

NMF Names Two toBoard of Directors 

Cory issenior vice president of 

General Atlanta, an investment firm 

in New York City. Over the past year, 

he has worked with NMF Senior Vice 

President of Operations and Finance 

Judy Gibaldi, providing guidance on 

the NMF’s technology needs, and has 

become more familiar with NMF 

programs and services. Ahighlight for 

him was attending his first annual 

conference. Cory, whohas previous boardexperience, is looking 

forward tohelping the NMF in the areas of fundraising and 

technology. 

“Although Iamnot personally affected, Marfan syndrome 

has deeply affected my family, including mymother, brother 

and three cousins. After atwenty year career, first intechnology 

and now in finance, Iamnow in aposition where Ihave 

the passion, experience and skills to have asubstantial impact 

on the NMF,” said Cory. “I look forward tothis opportunity 

to volunteer on the Board of Directors.” 

Nancy, who is currently apharmacist, has served as 

president ofthe Multiple Myeloma Research Foundation. 

As amember ofthe NMF’s research committee since 2008, 

she has shared with the NMF effective research models and 

strategies that aim to bridge science and business to improve 

the quality of care for patients. She is 

especially interested in research and 

drug development, and wants to get 

more involved with helping the NMF 

facilitate the identification ofnew 

drug treatment, bring new researchers 

into the field, and attract the interest 

of both pharmaceutical and biotech 

companies. 


Cory Eaves, of Larchmont, NY, and Nancy Sumberaz, ofRidgefield, CT, have been named tothe NMF Board of Directors, 

effective October 2010. 

PAB and SAB News 

The NMF is grateful to the medical experts who share their 

time as advisors tothe Foundation, either on the Professional 

Advisory Board (PAB), which provides medical oversight, or 

the Scientific Advisory Board (SAB), which reviews research 

grant proposals. Here are some ofthe recent accomplishments 

of some ofour PAB and SAB members. 

Dr. Duke Cameron 

(PAB) was named Cardiac 

Surgeon in Charge atthe 

Johns Hopkins Hospital 

andDirector of theDivision 

of Cardiology at the Johns 

Hopkins University School 

of Medicine. In addition, 

Dr. Cameron was named 

Director of The Dana and 

Albert “Cubby” Broccoli 

Dr. Duke Cameron 

Cory Eaves Nancy Sumberaz 

Said Nancy, “With both my 

husbandand son affected,Iam excitedtohelp theFoundation 

make even greater strides ingetting researchers, the pharmaceutical 

industry, and interested parties towork together 

more quickly, innew ways, tobreak down barriers and speed 

up the development of new medicines that can help make a 

greater difference in patients’ lives. Iamhopeful that my 

background in the pharmaceutical industry, not-for-profit 

research organization, and healthcare consulting will help 

provide additional insights and perspectives to build onthe 

already excellent work of the Foundation and to accelerate 

making adifference in the lives of patients and their families.” 

The NMF is grateful for the commitment of these two 

professionals and looks forward totheir contributions to the 

Board of Directors. 

Center for Aortic Diseases, aprogram that conducts research 

into the causes and treatments ofdisorders that affect the 

aorta, such as Marfan syndrome and Loeys-Dietz syndrome. 

Dr. Joseph Coselli (PAB) was elected President of the 

Southern Thoracic Surgical Association. 

Dr. Dianna Milewicz (PAB) is the Director of the new 

John Ritter Research Program in Aortic and Vascular Diseases 

at the University of Texas Medical School in Houston. In 

addition, in November, she was senior author on two studies 

published in the American Journal of Human Genetics about 

anew gene defect linked to thoracic aortic disease. 

Dr. Bruce Gelb (SAB) was installed as the Gogel Family 

Chair of Child Health and Development at the Mount Sinai 

School of Medicine. In addition, Dr. Gelb was elected to the 

National Academies’ Institute of Medicine. 

Dr.ChristineSeidman (SAB)was namedSenior Associate 

Editor for Circulation Research. 

Volume 30, No. 1 13

14 


Heartworks Expands to Atlanta 

Randy Martin,MD, Medical Director,CardiovascularImaging, 

Chief, Structural and Valvular Heart Disease, Piedmont 

Heart Institute, and Professor Emeritus ofMedicine, Emory 

University School of Medicine, and Steve and Rosalinda 

Rayman, principals ofAtlanta-based Steve Rayman Chevrolet, 

were the recipients ofa2010 Hero with aHeart Award atthe 

inaugural Heartworks Atlanta. This special event was held on 

November 18atthe Rayman Family Estate in the beautiful 

Buckhead section ofAtlanta. Proceeds from the event will 

benefit the NMF’s education, support and research programs. 

Dr. Martin, the former award-winning medical correspondent 

for WSB-TV,isapioneer in thefield of noninvasive 

cardiology and echocardiography, which iscritical to the care 

of people with Marfan syndrome and related disorders. 


Steve and Rosalinda Rayman 

Have aHeart for Marfan 

February isNational Marfan Syndrome Awareness Month, 

aperfect time to hold fundraising and awareness events! 

Looking for an activity that will generate awareness of 

Marfan syndrome or raise money for the NMF’s programs 

and services? Ifso, contact Cathie Tsuchiya, ctsuchiya@ 

marfan.org or 800-8-MARFAN, ext. 13. 

In addition, watch your mail and in-box later this winter for 

news about the NMF’s special Have Heart Campaign! 

Monica Pearson, Carolyn Levering and Dr. Randy Martin 

Mr. and Mrs. Rayman are long-time supporters ofthe 

NMF as atribute to their18-year-old nephew, Michael Murray, 

of NewYork, who has Marfan syndrome. Murray is the son of 

NMF Board member Karen Murray, who has served ascorporate 

host of Heartworks inNew York since its inception. 

Nearly200 people attended HeartworksAtlanta, including 

several Atlanta sports celebrities, such as Tony Gonzalez, of 

the Atlanta Falcons, and Andruw Jones, who formerly played 

for the Atlanta Braves. Monica Pearson, the popularWSB-TV 

news anchor, served asmaster ofceremonies. 

“It was so wonderful to raise the profile of the NMF in 

Atlanta and, atthe same time, raise much needed funds that 

help us serve our members,” said Carolyn Levering, NMF 

President and CEO. “We look forward toexpanding our 

presence in Atlanta and in the Southeast so we can more 

directly serve the Marfan syndrome and related disorders 

community in that area of the country.” 

Save the dates for upcoming 

Heartworks Galas 

February 26, 2011: 

Heartworks St. Louis 

April 7, 2011: 

Heartworks inNew York City 

Watch the NMF website for announcements about other 

Heartworks as they are scheduled!

Volunteers Are Vital to CDC-Funded Medical 

Education Outreach 

NMF volunteers showed incredible commitment during Fall 

2010, as they helped the NMF reach specialists at medical 

meetings around the country. Inparticular, the Northern 

Illinois, Mid-Atlantic and Northern California Chapters of 

the NMF were very well-represented. 

As partofthe medical outreach the Foundationisconducting 

with the educational grant itreceived from the CDC, the 

NMF hit the ground running last fall with exhibits at five 

major medical conferences. We unveiled anew exhibit which 

features important information about Marfan syndrome and 

related disorders, with aspecial emphasis on the revised diagnostic 

criteria. Dynamic photos by Rick Guidotti of Positive 

Exposure (www.positiveexposure.org) of affected individuals 

representing the diversity of the community are featured on 

the exhibit; their vibrancy enhances the exhibit and attracts 

the attention ofall who walk by. 

ForNorthern Californiavolunteer Paula Terrey,who helped 

with her husband Chaz Benedict atthe American Academy 

of Pediatrics conference in San Francisco, it was achance to 

get involved with the NMF again after along time away. 

Said Paula, “We used to be very involved, but life and 

health issues kept usfrom itfor awhile. We’reboth really 

excited tobeable tohelp pediatricians recognize the importance 

of early diagnosis through these new diagnostic criteria.” 

Maya Brown-Zimmerman, anNMF Board member and 

chair of the Education and Public Awareness Committee, also 

volunteered in San Francisco. 

“Staffing theNMF medical exhibit is aunique experience,” 

says Maya. “It allows us, the patients, to be able toprovide 

physicians with information onthe NMF and its valuable 

resources and allows the medical professionals to put aface 

to the syndrome.” 

TheNMF is extremely grateful to thefollowingvolunteers 

for their invaluable support in reaching alarge and diverse 

roster of medical specialists this fall. 

American College of Emergency Physicians (the NMF 

exhibited with theThoracic Aortic Disease Coalition), Las 

Vegas: Mike McMahon, Cory McMahon 

American Academy of Pediatrics, San Francisco: Paula 

Terrey, Chaz Benedict, Maya Brown-Zimmerman, Charlotte 

Lusschen 

National Society of Genetic Counselors, Dallas: Gretchen 

Oswald 

American Society of Human Genetics, Washington, DC: 

Rita Ahearn, Clare Whittaker, Mary Ahearn, Cindy Amdur 

American Heart Association, Chicago: Bruce Klein, Rhonda 

Barranco, Jennifer Aguayo, Kevin Hartman, Leane Dostaler, 

Diana Evanz 

plus 


Paula Terrey and Charlotte Lusschen at the NMF booth at 

the American Academy ofPediatrics meeting 

American Legion (major funder of the NMF’s children’s 

educational projects), Minneapolis: Randie Alf, Amanda 

Jungkuntz, Dave Rasmussen 

NMF Awarded O’Neill Foundation Grant 

TheNMF is pleased to announce anew capacity-buildinggrant 

from theWilliam T. and Dorothy K. O’Neill Foundation that 

will beused to upgrade our information technology systems. 

The O’Neill Foundation has been agenerous contributor 

to the NMF in the past, first supporting usin2009 with a 

grant toimplement aprogram evaluation plan, asystematic 

method for collecting, analyzing and using information to 

answer questions about how effective our activities are in 

meeting our mission. The new grant will beused to purchase 

amuch-needed new server and asoftware program that will 

help with program evaluation, fundraising and segmented 

marketing ofNMF programs and services. 

“The NMF is grateful to the O’Neill Foundation for its 

generous support for these important activities,” said Maggie 

Hogan, NMF’s Director of Foundation Relations and 

Conference Planning. “Grants, such as this, which support 

our infrastructure, are vital to the enhancement of our services 

for our members.” 

Volume 30, No. 1 15

16 

National Volunteer Network 

Congratulations to Our 

New North Dakota Chapter 

The NMF Board of Directors approved the North Dakota 

Provisional Chapter tofull chapter status atits meeting on 

October 30, 2010. The North Dakota group decided that 

official chapter status would help them accomplish more to 

advance the NMF mission. Group members are primarily 

interested in education and raising awareness about Marfan 

syndrome and related disorders in their rural area, where 

many people, including doctors, are not familiar with Marfan 

syndrome. Chapter President Selma Kerzman stated, “We 

have ahigh level of commitment and agreat sense of purpose. 

We believe that for every person we reach, wehave the potential 

to save another life.”The NMF congratulates its newest 

chapter and wishes every success to Selma and her board: 

Dena Kemmet, Vice President; Ken Stockert, Secretary; 

and Kent Vernon,Treasurer. 

One ofthe group’s first fundraisers asachapter was held 

at Space Aliens Grill and Bar, alocal restaurant. Through their 

fundraising program, Aliens Helping Earthlings, the restaurant 

donated 25percent of purchases on adesignated day when 

customers presented apromotional flyer that had been distributed 

bychapter members.The result was adonation of 

$134 to the NMF. 


Chapter &Local Network 

Selma Kerzman at the Aliens Helping Earthings fundraiser 

Heart ofIowa Chapter 

Heart of Iowa Chapter members at their corn maze fundraiser 

The 10th Annual Heart of Iowa Chapter Walk and Fun Run 

took place onJuly 31 at Copper Creek Lake in Pleasant Hill. 

Included were a5Kand 10K run, a2KYouth Fun Run, a2K 

Walk and some great activities for kids.The chapter participated 

inthe annual Pleasant Hill Summerfest following the 

Walk and Runs, where they continued to raise funds and 

Marfan awareness. The night before the Walk, arelaxing 

Moonlight Stroll was held. Intotal, more than $10,000 was 

raised, including $1,025 through the chapter’s Firstgiving 

online fundraising page. 

DuringOctober,several members of thechapterspent their 

weekends working at Geisler Farms corn maze. As aresult, the 

group earned $1,609 for 189 hours ofvolunteered labor. 

Geisler Farms also donated $1per admission during the 

Maze for Marfan weekend held October 9-10, resulting in 

an additional $1,020 donation. 

Massachusetts Chapter 

On August 14, the chapter held abarbecue at the home of Cindy and Steve Robillard in 

West Boylston. They had anice turnout and everyone enjoyed themselves.

Group News 

Mid-Atlantic Chapter 

The NMF Mid-Atlantic Chapter held its inaugural golf 

tournament fundraiser on August 13 at the South Riding 

Golf Club in South Riding, VA.Chapter members, led by 

Rob Berklite, organized afun day of golf, food and prizes 

for the 61golfers and 14 additional guests. It was agreat 

opportunity to raise awareness about Marfan syndrome and 

they raised $7,466 for the NMF. 

The Berklite family 

Northern California Chapter 

On October 2,the Northern California Chapter held its 

Tenth Annual Chapter Family BBQ in Castro Valley. More 

than 65 chapter members, relatives and friends enjoyed the 

event and perfect barbecue weather. Aspecial presentation 

was made to acknowledge numerous chapter members who 

have served the chapter for many years. Updates onthe 

atenolol vs. losartan clinical trial and the revised Marfan 

diagnostic criteria were presented to the group by Dr. David 

Liang from the Stanford Marfan Clinic. Door prizes were 

awarded and aspecial drawing was conducted that generated 

more than $3,000 to support the chapter’s 2011 Marfan 

Educational Symposium being planned for April 30, 2011, 

in Rocklin, CA. 

Northern California Chapter barbecue 


Each One Reach One 

PennJersey Chapter 

July 31 was NMF Night at Campbell’s 

Field, home ofthe Riversharks baseball team, in Camden, 

NJ. Each ticket purchased using thechapter’scoderesulted in 

a$5donationfor thechapter; they sold 84 tickets, raising 

$420. In addition, the chapter was permitted toset up an 

awareness table. 

Then, on October 23, the chapter held its 3rd Monte 

Carlo Madness casino night at the Aloft Hotel inMount 

Laurel, NJ. More than 100 attendees enjoyed an evening of 

good food and fun games. In addition toasilent auction, 

winning chips were turned in for raffle tickets for ahost of 

terrific items. Agreat time was had byall and more than 

$10,000 was raised for the NMF. 

The Makanoff family at Monte Carlo Madness 

Welcome New Network Groups 

If you live inone of these areas, please contact these 

new Network Groups. They would love your participation! 

Portland, OR: Rebecca Stroda, Chair 

Contact info: 503-397-0462; kk4ra@hotmail.com 

Eugene, OR: Laura Amarys, Chair 

Contact info: 541-344-5847; amarys4@gmail.com 

Latham, NY: Barbara Shields, Chair 

Contact info: 518-785-9565; barbara764@aol.com 

(meetings will start inthe Spring) 

Naples, FL: Betty Carr, Chair 

Contact info: 239-395-3410; ewcarr39@aol.com 

(meetings will start inthe Spring) 

To find alocal group in your area, visit www.marfan.org 

and click on Find aLocal Contact in the Find It Fast box. 

Volume 30, No. 1 17

18 


2Strides 

for Sarah 

The 2nd annual 5K 

Run/1 Mile Walk in 

honor of Sarah 

Epperson, organized 

by her mom, Rachel 

Epperson, took place 

on October 23at 

McAllister Park in San 

Antonio, TX. More than 

200 participants braved 

the rainy start tothe 

combined event and 

Rachel and Sarah Epperson raised $7,300 for NMF 

conference scholarships. 

Just afew days before the race, alocal Chick-fil-A 

restaurant held aSpirit Night to benefit the NMF. For each 

person who presented apromotional flyer that evening, 20 

percent of their bill was donated tothe NMF. Inaddition, 

all ofthe money spent on the Chick-fil-A prize wheel that 

night was donated tothe NMF.This added another $300 to 

the money donated inhonor of Sarah. 

Motoring for Marfan 

People People & 

The 6th Motoring for Marfan Car and Bike Show took place 

on October 18inOilton Park, Oilton, OK. Nearly $450 was 

raised for theNMF,bringing thesix-yeartotal to $6,540. Each 

year, the event has been in honor of young Bill Campbell, 

whohad Marfan syndrome.Sadly, on December 11,Billpassed 

away, just three weeks after his 18th birthday. 

Bill Campbell enjoying the pool at the 2007 NMF Annual Conference atStanford 


Birthday Fundraisers 

For his 9th birthday, Dylan Cho, ofRhinecliff, NY, decided 

to askfamilyand friendsfor donations to theNMF in memory 

of his father, John, who died five years ago, and also in honor 

of his brother and “best bud ever,” Ian, who has Marfan 

syndrome. Asaresult, heraised $285. Dylan’smom, Dana 

Page,said, “The choice was made to raisethese fundstoensure 

that the memory ofhis father will never be forgotten and 

that the loving support and services that the NMF provides 

will endure.” 

When Lisa Hajj,ofRoswell, GA,celebratedher 40th birthday 

on December 4, she asked friends to make adonation tothe 

NMF in lieu of gifts; Lisa’s son, Connor,has Marfan syndrome 

and she knew this would be agreat way to raise funds and 

awareness. She purchased wristbands to give to party attendees 

too. Sheraised more than $900. Lisa says:“Ihighly recommend 

turning any party, big or small, into afundraiser. Itwas easy 

and people are willing to give to agood cause, especially if you 

can personalize it for them. Because everyone knows Connor 

and loves him, putting his face on the fundraiser helped to 

raise alot of money.” 

Donation Collection 

Dylan and Ian Cho 

The Life Café inNew York City keeps adonation box on its 

bar with informationabout Jonathan Larson, Marfan syndrome 

and aortic dissection. Jonathan Larson created the Pulitzer 

Prize-winning Broadway musical RENT and lost his life toa 

misdiagnosed aortic dissection, thought to have been caused 

by Marfan syndrome.The Life Café, which isrecreated in 

RENT, periodically sends the collected donations to the 

NMF to support the Emergency Medicine Campaign. Most 

recently, they donated $260.

Events Events 

In My Hands at Film Festivals 

In September, In MyHands was presented as an official selection 

at the COMMFEST Global Community Film Festival in 

Toronto, where itwas awarded the COMMFEST MADA 

(Making aDifference Award) for Best DocumentaryUnder 60 

Minutes. In conjunctionwith thefilm festival, the Canadian 

Marfan Association hosted aGala fundraiser which included 

apanel discussion with filmmaker Brenda Siemer Scheider. 

NMF President/CEO Carolyn Levering attended, as well. “It 

is exciting tosee the film finding anaudience,” said Levering. 

“I am thrilled to see people using the film asanopportunity 

to raise money for the Marfan syndrome community.” 

Left toright: Mia and Brian Heber, Karen Singley, Jonathan Martin, Brenda Siemer 

Scheider, Adam Dutko, Vince and Terri Carter 

Members of the Colorado Marfan Community joined 

NMF Director of Educationand Awareness Programs Jonathan 

Martin and Brenda Siemer Scheider atthe Rocky Mountain 

Women’s Film Festival screening in November inColorado 

Springs. In addition tothree well attended public screenings 

at the festival, hundreds oflocal high school students viewed 

the film aspart ofthe Festival in the Community program 

and created art projects which entitled them to participate in 

apanel discussion with the filmmakers. 

Golf Outing 

The Christy Dermer Golf Outing, organized bythe Dermer 

family of Toledo, OH, raised $1,500 for the NMF in memory 

ofChristy and inhonor of her three-year-old daughter, 

Olivia Claire Brinkman. 

TALL CLUBS 

TheTall Clubs International (TCI) Convention took place 

in New Orleans in June. They held asilent and live auction 

and split the funds equally between theTCI Foundation and 

the NMF, resulting in a$1,210 donation. 

Car Show 


The2nd AnnualCar Show in memory of Eric Wika,organized 

by the Wika family, was held on May 16atThe Fruit Yard 

in Modesto, CA. Itwas open to all makes, models and years 

of cars.They raised $2,266 for the NMF, bringing the two 

year total to more than $5,600. 

More online at 

For more People &Events, including Larry www.marfan.org 

Hahn’s ongoing art print fundraiser in 

Kentucky, Laura Siqueiros’ wristbands for 

runners in California, and Ben Weisman 

and Andrea Aguiar’s successful online birthday 

fundraisers, please visit the NMF’s website, www.marfan.org. 

Attention All Individual Volunteers: 

Make Your Hours Count 

Are you proud of the work you have done for the NMF? Do you 

want to make your hours count for your volunteer record—and 

givethe NMFcredibility with potential fundersaswell?The NMF 

is establishing anew system to ensurethat everyvolunteer hour 

counts—and weneed your help. 

We areasking thatall individual volunteers log in your volunteer 

activities and hours through this link: http://bigsanto.formbin. 

com/forms/volunteer_hours_questionnaire. Wewould like to 

hear from all volunteers, past and present, so that everything 

youhavedone is included (for example: media representative, legislative 

advocate, education/awareness projects, fundraising 

activities, or any other work you have done). This information 

will become part ofyour permanent volunteer record atthe 

NMF. Volunteers who work throughChapters or Network Groups 

will report their hours through adifferent process. 

This new system enables the NMF to recognize your individual 

contributions appropriately and begintocalculatethe collective 

number of hours our volunteers so generously devote to the NMF 

mission each year. Inaddition, the total number of volunteers 

and the hours they devote tothe NMF are important indicators 

for funders who may support NMF programs. 

Volunteers continue to be the true heartofthe NMF! Please help 

us begin anefficient and accurate way torecord and recognize 

your volunteer efforts. All responders will receive atoken of 

thanks from the NMF. 

Volume 30, No. 1 

19

20 


The Marfan syndrome and related disorders community is 

filled with families who are determined to do the best they 

can with their condition. Given the choice of how tolive with 

their diagnosis, so many families choose to raise awareness 

and raise funds tohelp with research, education and support 

for others like them. 

Andrea Banke, of Westmont, IL, is amember ofafamily 

that has faced tragedy, yet has remained focused honoring 

their loved one’s memory and supporting the NMF on behalf 

of others inthe family who are also affected. Inthis column, 

she explains her family’s motivation and their various efforts 

to support the NMF. 

What is your inspiration for supporting the NMF? 

Our inspiration for supporting the NMF was the death of 

my husband, Christian Banke, in September of2002, and 

the fact that myoldest daughter and two nephews are affected 

with Loeys-Dietz syndrome. Igot involved with the local 

Northern Illinois Chapter afew months after Christian died 

and have been involved with them ever since. Idonot want 

to see another child lose aparent or another parent lose a 

child to Marfan or Loeys-Dietz syndrome. 

What was the first event you organized, and how did you go 

about planning it? 

The first event we did as afamily was Drink for aCure, which 

started in2005. Christian’s siblings and mother were all 

involved and the event grew each year. Weknew that our 

friends gotopubs tohave agood time and have afew drinks, 

so why not have the proceeds for that go to agood cause? 

We found apub to hold the event and worked out the costs 

with them. Between an entrance fee, which covered food and 

drinks, and raffles, we raised $1,500. Many family members 

were involved in running the event. 

What was your feedback onthe first event? How did you learn 

from it? 

The feedback onthe first event was very positive. Everyone 

had alot of fun and weraised agood amount of money, 

considering that itwas asmall event. We decided tomake it 

an annual event and were determined to double the amount 

of money raised. Each year, welearned how tobemore profitable. 

This culminated inour fourth annual event, which 

featured raffle prices, asilent auction, casino gaming, alive 

band and an event photographer. Wealso had corporate 

sponsors atthree different levels and anadvertising journal, 


Volunteer Profile: 

Banke-Yario Family 

Andrea Banke (l) with Lisa Kuehn at the first Costume for aCure 

which included information about Marfan syndrome, Loeys- 

Dietz syndrome and the story of Christian and our family. It 

was afun event that raised $19,000. 

What other events have you done over the years? 

In 2010, we revamped our concept and decided tohold a 

Costume Party for aCure. We changed the fundraiser from 

an adults only event to afamily event. My kids were amajor 

motivation for this because they kept asking me to plan an 

event that they could attend. Wethought it would be fun to 

do acostume party fundraiser the weekend before Halloween 

so people could wear their costumes more than once. We 

chose avenue called The Barn because their banquet facility 

is at astable and offered pony rides, apetting zoo, amoon 

jump and lots ofother fun activities for kids.There was also 

aDJ, dancing and large video screen. Most of the food was 

donated. Everyone had agreat time and we raised $3,100. 

Like our first Drink for aCure, we learned alot in our inaugural 

year and plan tomake iteven better next year. 

How doyou measure success? 

Success for us is measured by how much the attendees enjoy 

themselves, the amount of education and awareness about 

Marfan syndrome we are able toprovide, the connections we 

make and support we provide to others within theMarfan 

community.Ofcourse, we also look at theamount of money 

we raise. 

Continues onopposite page

8th International Symposium continued from page 1 

countries are using similar protocols. While this isgood for 

validation purposes, it may give rise toconfounding results. 

In the spirit of global cooperation, the NMF was asked by 

the international community to undertake the role of convener 

to continue collaboration between the countries currently 

conducting clinical trials and provide amethod of communication 

for them to share their interim results and then to 

begin discussions about possible meta-analysis. 

In addition todiscussing the clinical trials, research was 

presented on topics including cell differentiation inthe aorta 

and how that is affected by different mutations; variable 

expression and how to best predict prognosis; and the revised 

diagnostic criteria. 

It was clearatthismeetingthatresearchinrelateddisorders 

is very much an integral part ofthe understanding ofMarfan 

syndrome. Not only do people with related disorders require 

much of the same treatment and follow-up asthose with 

Marfan syndrome, but also it was evident at the meeting how 

the understanding ofthese related disorders is advancing 

knowledge on Marfan syndrome. 

The NMF’s role in catalyzing this global effort cannot 

be underestimated. Time after time, the scientists thanked 

the NMF for research grants and fellowships during their 

Banke-Yario Family continued from opposite page 

How did you get your family and friends toband together? 

We asked. Itisamazing how generous of heart most people 

are and how much they want tohelp. When you plan an 

event and ask for help, itgives people atangible way that 

they can help. Everyone has adifferent gift or skill. Friends 

who are excellent cooks have helped with preparing food, 

people who have business connections have helped with 

prize donations, creative people have helped make gift baskets, 

and others who have the time have helped serve at events. 

When you have anidea for an event, sit down and make a 

list of all that isneeded to get it going. Then show the list to 

family and friends and see who iswilling and able tohelp 

with your list.This will give you agood idea ofwhat areas 

you have help in and what you will need to do yourself. 

How have you worked with the Northern Illinois Chapter? 

We have attended and volunteered at most of the events the 

Northern Illinois Chapter has done, and the board members 

have been wonderful in helping ustorun our events. We 

could not have run the events without their help.They have 

also been key in getting the word out to the Marfan community.The 

Northern Illinois Chapter isareally wonderful 


Dr. Hal Dietz at the 8th International Symposium on 

Marfan Syndrome and Related Disorders 

presentations. They were also extremely grateful for theNMF’s 

ongoing commitment to convening such meetings as the 

international symposium so that they can network with each 

other face-to-face, share research innovations and collaborate 

on future directions to investigate. 

group of people and weare blessed by their commitment 

and ongoing support. 

What advice do you have for other individuals who are considering 

conducting anevent to support the NMF? 

If you have anidea, go for it! Once you have your idea, 

research it, find out what it takes to do it, and then find lots 

and lots ofpeople to help put together and run the event. 

No matter how much money you raise, whether the amount 

is small orlarge, every effort makes adifference! Younever 

know how your event can touch the life ofanother. Ifjust one 

person feels supported, makes aconnection, gets educated, 

then it is worth it. Younever know the ripple effect your 

effort makes. The ripple you start could end up saving alife 

or be apart ofthe funds that finds the cure! 

Once you have decided to plan alocal fundraiser or activity, 

pleasecontactthe NMFtodiscussyour idea, getsome guidance 

and complete the NMF fundraising/activity approval process. 

Contact Cathie Tsuchiya, NMF Local Fundraising Coordinator, at 

ctsuchiya@marfan.org or 800-8-MARFAN, ext. 13. 

Volume 30, No. 1 

21

22 


Then and Now 

continued from page 1 

1994. “The Foundation educates physicians totake better 

care of their patients and torecognize Marfan syndrome when 

you can still make adifference. The NMF enables researchers 

to make breakthrough discoveries through the support of 

research and empowers patients tolive happy, healthy and 

long lives.” 

Priscilla Ciccariello, who took over as Chair in 1984 and 

now serves asChair Emeritus ofthe Foundation, was very 

mindful of the needs of the people with Marfan syndrome 

and was determined from early ontoadvance each part of 

the NMF’s three-pronged mission: education, research and 

support. 

After her oldest son died from Marfan syndrome (he 

was not diagnosed until after hesuffered an aortic dissection), 

and then her husband and two other sons were diagnosed, 

Priscilla remembers feeling like they were the only family 

dealing with this condition. She struggled to find information, 

support and hope. 

Today, the NMF continues to fulfill Priscilla’s vision with 

exciting educational programs, innovative support activities 

andagrowingresearchprogram that hasresulted in significant 

breakthroughs. 

Perhaps one of the greatest successes during the past 30 

years was reported in astudy in the American Journal of 

Cardiology (January 15, 1995). In that paper, researchers 

reported that the life expectancy for someone with Marfan 

syndrome had increased from the 40’s tothe 70’s, which is 

near the unaffected population. The reasons for this increase? 

Better (and earlier) diagnosis, advances in drug therapies and 

new surgical techniques. 

“The NMF has always been true to its mission, setting 

strategies and goals that will benefit the Marfan community. 

This is atribute to the Board of Directors, who provide input 

and oversight, and the doctors and scientists who know the 

most about this condition,” said Carolyn Levering, NMF 

President andCEO. “Through our awareness programs, people 

Then... Now... 


arediagnosed earlierand aremoreinformedabout theongoing 

medical management they need to maintain their health. 

Marfan syndrome is also on the radar of both general practitioners 

and specialists who treat Marfan patients because of 

theextensive outreachwedo. Oursupport services havegrown 

and evolved as new technologies have become available. And, 

our research program has expanded in terms of the financial 

support weprovide, the kinds ofgrants we offer and the 

high-level partnerships we have created toadvance the field.” 

The NMF is celebrating its 30th anniversary all year 

long—in this newsletter, on the website (www.marfan.org) 

and atthe annual conference. There will betributes, contests 

and opportunities for NMF members to be apart ofthe 

celebration. Please stay connected to the NMF so you can 

get in on the action! 

Meeting inVictor McKusick’s Baltimore home 2011 Annual Conference in Portland, OR 

Very limited information available specifically for 

patients 

Life-expectancy: 40’s Life expectancy: 70’s 

Priscilla Cicciariello, soon after she became Chair of the NMF 

NMF Information Resource Center, Connective 

Issues newsletter, website and annual conference 

provide extensive information for affected people 

and their families

Seeking 30th Anniversary Marfan Stories 

Were you diagnosed with Marfan syndrome 

in 1981? Were you born in1981 and 

diagnosed at birth orlater with Marfan 

syndrome? If so, wewant to hear your 

Marfan story. 

The NMF is collecting stories about 

people who meet the above criteria. As 

part ofour 30th anniversary celebration, 

we want tohighlight you onour website, 

in our media outreach and in other ways. 

Maryann Roney (left) and Cheryll Gasner 

in the early days of the NMF 

We Remember and Honor ... 


The National Marfan Foundation isgrateful to its members and friends who have made contributions in memory of, orin 

honor of, the following individuals.These donations are fully appreciated and support our mission to save lives and enhance the 

lives ofthose affected by Marfan syndrome and related connective tissue disorders. 

In Memory of: 

Adrian Adame 

Carol Adame 

Elias Adame 

Kaitlyn Laurel Anthony 

Elissa Faith Bell 

Max Belopolsky 

Joyce Bentley 

Estelle Broady 

Sarah Cayo 

Joseph D. Contois 

Nancy Delava 

Ben Dirckx 

Clifton Stewart Durand 

Joel H. Erikson 

Bill Feinstein 

Gerald Fourt 

Fraser J. Fuller 

Tammy Gadomski 

Jill Gansmann 

Christopher Gilmore 

Gregory Gilmore 

Jeff Goldman 

Montgomery Gregory 

Sidney Gussow 

Pat Hamilton 

Rev. Ruth Louise 

Hanks 

Michael Ray Hansen 

John Heinemann 

Michael Simon Hendy 

Kevin T. Hoffman 

Dr. Charles Hollis 

John P. Howell 

Bert W.Humphries, Jr. 

Jeremy Izzo 

Robert J.Johnson, Sr. 

Kevin Jolie (Ravik 

Nazarian) 

Patricia Jones 

Daniel Kabool 

Les Keiter 

Austin Kerswill 

TomKloker 

P. Wayne Kuhlman 

Reed Pyertiz, MD, Phd, with NMF members Paula Neill (left) and Wendy Weiss at an early NMF Conference 

Interested? Please send us your Marfan story—no more than 500 words—via 

email.Tell us your name, age and your diagnosis story, who else in your family is 

affected and how the NMF has helped you inyour Marfan journey. Include your 

contact information aswemay want more information.You can send your submission 

to publicity@marfan.org. 

Greg Landry 

Mildred Levendusky 

Gary Luedde 

Curtiss M. Lund 

Robert Alan Lynch 

Norma, David and 

Richard Makanoff 

Douglas Edward Mayer 

Jeffrey Lee Mayer 

Bernard McLaughlin 

Janet Medkeff 

Malinda Minnich 

Jerry Monaco 

Zachary Haines 

Moorhead 

Haik Nazarian and 

Son 

Michael Nygaard 

John Michael 

Paramore 

Stephen Parfenoff 

Larry Lee Parsel 

Hoshaleen (Memaw) 

Patterson 

Christopher Paulsen 

TomReis 

Nita Reppenhagen 

David A. Ricca, M.D. 

Brock Robertson 

Maryann Roney 

Patrick Roulston 

Gary Martin 

Sanderson, II 

Candace Schmit 

Susanna Serenyi 

Kelley Severance 

Steven Lee Stember 

Bridget Stewart 

Andrew James Swan 

Eugene Tingley 

Steven Tokos 

Barbara Toshach 

Carrie Ann Tyler 

Josephine M. Verschay 

Allison Walker 

Howard Winkler 

Harold Winshell 

In Honor of: 

Barbie Amberg &Brian 

Dr. Alan Braverman 

Carol &Owen Brown 

Kenneth &Allison Brown 

and Family 

Eileen Carroll 

Priscilla Ciccariello 

Dr. Wesley Covitz 

Randy &Susan Falco 

William Henry Floyd 

Mary Gauthier 

Brandon Gerber 

Claire Grant 

Connor Hajj 

Lisa Hajj 

Gail &Howard Jehan 

Clem &Jean Kinnicutt 

Tricia Kordalski 

Daniel S. Lugano 

Barbara &Harold 

Makanoff 

Wayne Moore 

Karen Murray &Harry 

Steinmetz 

Eric Nazarian 

Barb Neustadt 

Flossie O’Sullivan 

Guidry Ramoin 

Kelly Raymond 

Katy Reppenhagen 

Robert Riley, Jr. 

Lisa Ritell 

Scott Roberson 

Michelle Smith 

Susan Taylor 

Terry &Bernie 

Valerie Vivian 

Robin &Minh Vu 

Norma Warren 

Ben Weisman 

Volume 30, No. 1 23

22 Manhasset Avenue 

Port Washington, NY 11050 

Non Profit Org. 

U.S. Postage 

PAID 

RIPON, WI 

PERMIT No.100 

Do youhaveachild with Marfan syndrome or arelated disorder? 

Makesure that summer 2011isone they will neverforget. Plantoattend theNMF’s27thAnnual 

Conference, July 14–17, in Portland, OR.Learn, laughand live with theMarfan community.You and 

your family will bechanged forever. More information on page 4.

Winter 2011 - National Marfan Foundation

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