Winter 2010 - National Marfan Foundation

National Marfan Foundation: Education, Research and Support for the Marfan Syndrome and Related Disorders Community
What’s Inside
Research News ............ 1, 4–6
2009 Grants .................4
2008 Grant Updates ..........5
Research Studies ...........6
MedQuest .................... 9
Related Connective
Tissue Disorders ...............10
2010 Annual Conference .......11
Online Communities ........... 13
National Volunteer
Network ...................14–19
Chapter News ..........14–15
People &Events ........16–18
Volunteer Profile ........... 19
Research Issue
Winter 2010
Vol.29, No.1
Progress and Promise inMarfan Syndrome Research
An Update from Hal Dietz, MD, Johns Hopkins
As 2009 comes to an end, Dr. Ron Lacro, myco-principal investigator, and Iwant topersonally
thank the families inthe Marfan community who made the commitment to participate in the
atenolol vs. losartan clinical trial. More than 1,000 people have been screened and, as of
December 3,2009, we have 481 patients enrolled. Our goal isstill toenroll another 123 patients
to reach our target of 604 patients. The sooner that is accomplished, the faster the results ofthe
trial can bedetermined. Ifyou have not yet been screened, please make aneffort tocall orvisit
one of the enrollment sites for information. (See the enrollment criteria on page 6.)
This trial is truly the first step indeveloping new treatments for Marfan syndrome. Aswith
all research, more information usually leads to further questions. Although it will beseveral years
until the full results from the trial are revealed, wecan certainly begin toprepare ourselves for the
Hal Dietz, MD
potential outcomes. There are three outcomes which can be expected: positive, positive with room for improvement or negative.
Given that wecannot predetermine the specific outcome ofthe trial, the research community as well as the Marfan community
should prepare itself for all possibilities.
Clinical trials are designed to rigorously test aprecisely defined question. If the question isvague, diffuse or evolving during
the course of the trial, itcan severely compromise (or even prevent) the ability to answer any question. The question athand
in this trial is whether or not aspecific dose of losartan is better than aspecific dose of atenolol in slowing the pace ofaortic
root growth (standardized to body size) inyoung people with aspecified severity of Marfan syndrome. If, as we all hope, the
trial shows an overtly positive result, wewill still need to ask many other questions. Is the protection maintained over time? Is
it necessary to take the medication for alifetime? Ifso, what happens if you need to stop the medication? Does this treatment
address other manifestations of Marfan syndrome? What other groups ofpatients might benefit from this treatment? Ifthe
continued onpage 20
NMF-Supported Research Meetings Create
Excitement in Scientific Community
On September 22–23, 2009, the first Aortic Disease Summit was held in Baltimore,
MD.This summit was hosted by the National Registry for Genetically Triggered
Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) and sponsored
by the National Heart, Lung, and Blood Institute (NHLBI), the National Institute
of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the NMF.The
goal ofGenTAC is to collect clinical data and biologic samples from patients with
diverse conditions who have apredisposition todevelop thoracic aortic aneurysm
and dissection and so become arich research resource for scientists and physicians
(see enrollment criteria on page 6). Dr. Kim Eagle, from the University of Michigan,
and Dr. Hal Dietz, from Johns Hopkins University, were co-chairs of this meeting.
Scientific sessions included awide range of both basic and clinical science with
regard to aortic disease. Basic scientists, medical geneticists, cardiologists and surgeons
came together to discuss the exciting state-of-the-art research concerning disease
pathogenesis (chain of events leading uptodisease), and the progression and treatment
of individuals with genetically-induced aortic aneurysms.
continued onpage 21

2
Connective Issues
Dates &Deadlines
February: National Marfan Awareness Month ♥
See page 12 for National Marfan Awareness Month opportunities
March
March 6 Heartworks St. Louis, Chase Park Plaza, St. Louis, MO
Contact:Kristin Braun, 800-8-MARFAN ext. 24 or KBraun@marfan.org
March 6 Northeast Indiana Network Group Meeting
Parkview Women’s Health Center, Fort Wayne, IN
Contact: Ellen England, 260-925-4041 or eeengland@gmail.com
March 7 Mid-Atlantic Network Group Meeting, Johns Hopkins Hospital, 2pm
Guest speaker: Hal Dietz, MD
Contact: Mary Ahearn, 301-933-2112 ormahearn54@aol.com
March 15 St. Louis Chapter Meeting, Barnes-Jewish Hospital, 7–9 pm
Contact: David Striker, 314-542-2413 ordasmd913@aol.com
April
April 11 Massachusetts Chapter “Heart toHeart” Support Meeting
Children’s Hospital Boston atWaltham, 11 am
Contact: Jon Rodis, 617-846-4975 or jrmarfan58@aol.com
April 22 Heartworks: The Marfan Gala 10th Anniversary
Cipriani 42nd Street, New York, NY
Contact: Kristin Braun, 800-8-MARFAN ext. 24 or KBraun@marfan.org
May
Winter 2010
Chapter Quarterly Financial Form Due
May 1 3rd Annual Regional Marfan Educational Symposium
William Jessup University, Rocklin, CA
Contact: Susan Meier, 916-632-3214 or susan.meier@starstream.net
May 1 “A Celebration of Marfan Life and History” Fundraiser
Winthrop Elks Club, Winthrop, MA
Contact: Jon Rodis, 617-846-4975 or jrmarfan58@aol.com
May 6 Heartworks Atlanta
Contact: Kristin Braun, 800-8-MARFAN ext. 24 or KBraun@marfan.org
May 8 New England Health Symposium; 8am–3 pm
Dartmouth Hitchcock Medical Center, Lebanon, NH
Contact: Rene Jones, 603-769-1263 or coordinator@nhvtmarfan.org
May 15 Northeast Indiana Network Group Meeting
Parkview Women’s Health Center, Fort Wayne
Contact: Ellen England, 260-925-4041 or eeengland@gmail.com
May 17 St. Louis Chapter Meeting, Barnes-Jewish Hospital, 7–9 pm
Contact: David Striker, 314-542-2413 ordasmd913@aol.com
May 22 Heartworks Westchester, Metropolis Country Club, White Plains, NY
Contact: Kristin Braun, 800-8-MARFAN ext. 24 or KBraun@marfan.org
June–July
June TBD NMF Northern Illinois Chapter 17th Annual Walk-a-Thon
Contact: Bruce Klein, 630-415-0044 or bklein01@sbcglobal.net
July 8–11 NMF 26th Annual Conference, Houston, TX
Contact: Maggie Hogan, 800-8-MARFAN x38 or mhogan@marfan.org
For more details about upcoming events and meetings, be sure to check the NMF
Calendar on our website, www.marfan.org.
22 Manhasset Avenue
Port Washington, NY 11050
516-883-8712 |800-8-MARFAN
www.marfan.org
Boards &Staff
Board of Directors
Jon Tullis, Chair, PA
Gavin Lindberg, Vice Chair, MD
Karen Murray, Secretary, NY
Raymond Chevallier, Treasurer, NY
Susan Falco, Executive Committee Member-at-Large, NY
Gary Kauffman, Executive Committee Member-at-Large, FL
Mary J.Roman, M.D., Executive Committee Member-at-Large, NY
Scott Avitabile, Member-at-Large, NJ
Steven Crombe, Member-at-Large, FL
Teri Dean, Member-at-Large, IA
Thomas P. Fitzgerald, Member-at-Large, NJ
Barbara Heller, Member-at-Large, MD
Jerry Lerman, Member-at-Large, NY
Jim Sidorchuk, Member-at-Large, NY
Diane M.Sixsmith, MD, Member-at-Large, NY
Benjamin Weisman, Member-at-Large, MA
Priscilla Ciccariello, Chair Emeritus, NY
Michael Weamer, Board Advisor, NY
Professional Advisory Board
Dianna Milewicz, MD, PhD, Chair, University of Texas Houston Health Science Center, TX
Alan C.Braverman, MD, Washington University School ofMedicine, 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
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, NewYork Presbyterian Hospital-Weill Cornell Medical Center,NY
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
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, Director of Communications, Newsletter Editor
Cathie Tsuchiya, Administrative Director &Local Fundraising Coordinator
Kathy Jeffers, Manager of Volunteer Development
Amy Kaplan, RN, Manager, Information Resource Center
Alexandra Dubow, Design &Production

Connective Issues
Message from Carolyn Levering, NMF President &CEO
Dear Friends:
This is atime of real hope inthe Marfan syndrome and related disorders community.
In the Fall, Ispent time on the road and had anopportunity to experience the excitement
in the research arena first hand. The scientific meetings Iattended (front page ofthis
newsletter) showed that the field is quite fertile and there iscautious optimism about
improved treatments ofMarfan syndrome. The NMF is playing amajor role as we support
the research that isbreaking through barriers and rapidly increasing our understanding.
Iencourage all members of the Marfan community to help us continue this momentum
in two important ways. Ifyou are eligible, participate in research studies (page 6). If you
believe inthe importance of our research efforts, remember that every dollar counts. Please show
your support and give to our Research Drive.
Volunteerism in our NationalVolunteer Network is flourishing coast to coast andIhadanopportunity
to be part ofthat aswell this Fall. My trip to the west coast (page 18) enabled me to meet with
several chapters and network groups, exchange ideas, and talk about the awareness and fundraising
opportunities that are possible locally. Our NVN isthe lifeblood of our organization and we can
never overstate how effective each and every one of you can be in advancing our life-saving mission
in your own backyard.
On anational level, the economic picture continues to be challenging. This is true for the general
population and the nonprofit world.The NMF is doing all it can todiversify its fundraising strategies,
devising creative ways for people to donate and expanding its gala calendar. Itstill holds true that if
everyone who isserved bythe NMF—whether they or afamily member orfriend is affected—
would give to their own capacity, the Marfan and related disorders community could be assured that
the NMF will continue to be here toserve them.
As you read this newsletter, you will see stories ofsuccessful events, such as the showing ofIn My
Hands, aMarfan documentary, at the Hampton International Film Festival (page 13); successful
fundraising, such as Strides for Sarah, aSan Antonio race that raised $6,700 (page 16); and successful
educational programs, such as our exhibit atthe American Heart Association meeting (page 7). We
continue to update our website with information tohelp people live with Marfan syndrome (page
8), answer medical questions about the condition (page 9), and provide special opportunities for
affected teens (page 23). But, we cannot continue to maintain and enhance our programs—nor
capitalize onopportunities that come our way—without you.
Recently we were praised as the“poster child for raredisease voluntaryhealthorganizations.”The NMF
regularly receives this type of recognition from our collaborators for the effective and professional
services we provide and the research wefoster. With your support and participation, we can doeven
more.
Warm Regards,
Carolyn Levering
President &CEO
Volume 29, No. 1 3

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2009 NMF Research Program:
Grant Recipients and McKusick Fellowships
Each year, the NMF awards grants to meritorious projects—
selected by the Scientific Advisory Board—as part ofits traditional
research program. The Foundation’sResearch Grant
Program is made possiblebydonations from NMF supporters.
McKusick Fellowships provide an opportunity for young
physicians and scientists who are embarking onatraining
period inthe field of Marfan syndrome to submit aproposal
on Marfan syndrome or arelated disorder. Fellowships are
awarded to candidates who submit ameritorious research
proposal, who have astrong interest in remaining inthis
field, and who have astrong mentor to help them develop
their career. This program helps toensure training ofyoung
scientists and physicians who can become tomorrow’s leaders
in research onMarfan syndrome and related disorders.
Please give generously to the NMF Research Drive so
we can continue to fund important projects that lead to an
increased understanding ofMarfan syndrome and related
disorders and better treatments for all those who are affected.
2009 Research Grant Awards
Suneel Apte, PhD
Cleveland Clinic, Cleveland, OH
$50,000 one-year award
ADAMTSL4, Fibrillin-1 and
Ectopia Lentis
Ectopia lentis or lens dislocation
without other features ofMarfan
syndrome canbecaused by fibrillin-1
mutations. Recently, amutation in
Suneel Apte, PhD
agene known as ADAMTSL4 was
identified inpatients with ectopia lentis.This mutation affects
aprotein that was not previously thought to have any role in
the eye, or to be related inany way to fibrillin-1 orMarfan
syndrome.Thisnew genetic discovery suggeststhatADAMTSL4
is related tofibrillin-1. Interestingly, ADAMTSL4 is related
to ADAMTS10, afibrillin-binding protein that is mutated
in recessive Weill-Marchesani syndrome, which has ectopia
lentis as amajor feature. Collectively, these genetic discoveries
strongly suggest that ADAMTSL4 may have arole in promoting
assembly ofzonular fibers and that itishighly relevant
to Marfan syndrome and related disorders. The goals of this
study are to achieve acomplete understanding ofthe normal
ADAMTSL4 protein, determine where itismade in the eye,
define how itbinds to the fibrillin-1 molecule, and investigate
Winter 2010
its role in the formation of the zonule using cell culture
models. Investigating this relationship could, in the long
term, be beneficial for understanding and treating lens
dislocation that occurs in Marfan syndrome, in addition
to determining the basis for aMarfan-related disorder.
Joseph Coselli, MD
Baylor College of Medicine,
Houston, TX
$100,000 two-year award
Aortic Valve Sparing Operative
Outcomes inPatients with Marfan
Syndrome
Many Marfan patients need to have
surgerytocorrect aorticroot dilatation
Joseph Coselli, MD
and aortic valve dysfunction. While
the aortic root is repaired by replacing the dilated aorta with a
special tube implant, thereare two different surgicaltechniques
that can beused to restore the performance of the valve: aortic
valve replacement (AVR) oraortic valve-sparing (AVS). The
AVRtechnique involves replacing the patient’s natural valve
with amechanical orbiological prosthetic valve. Mechanical
valves are used most often and are durable and reliable, but
they require life-long blood-thinning therapy. Asanalternative
approach, AVShas become popular among both patients
and surgeons because it preserves the patient’s natural valve
and does not necessitate blood-thinning.
For Marfan patients, it is not clear whether the AVS
procedure produces the same clinicalresultsasthe AVR
procedurebecause Marfan syndrome makes the aortic valve
fragile. Therefore, aprospective, international registry study
—AorticValve Operative Outcomes in Marfan Patients—was
started inMarch 2005 to compare the results ofAVR and
AVSoperations. Twenty leading international and U.S. clinical
centers specializing inaortic root surgery have combined
their efforts to conduct this research. The current proposal
will allow the continuation ofdata collection for this study
to determine whether survival and freedom from valve
complications are similar after AVS and AVR root procedures
in patients with Marfan syndrome by enabling anaccurate
comparison of the results ofthe two types ofoperations.
Factors that influence these outcomes will beidentified for
both surgical procedures. The results will help surgeons to
select the best type of root operation for their patients.
continued onpage 22

2008 Grant Award Updates
The research studies funded by the NMF as part oflast
year’s research program are making important strides inthe
understanding ofMarfan syndrome. Here are updates from
the scientists.
RobertP.Mecham, PhD
Washington University,St. Louis, MO
$100,000 two-year award
Microfibril Associated Glycoprotein (MAGP): Modifier of
Microfibril Function
Mutations inthe microfibrillar protein fibrillin-1 have been
linked to Marfan syndrome, and recent studies have suggested
that mutant fibrillin can no longer bind animportant growth
factor (TGF-β) that controls tissue growth and cellular function.
Another protein that partners with fibrillin inalmost
all microfibrils ismicrofibril-associated glycoprotein (MAGP).
There are two members of this family and fibrillin isalways
associated with one of the MAGPs in the normal microfibril.
The studies during the past funding period have documented
that MAGP1, like fibrillin, binds growth factors and that
inactivation of MAGP1 in miceproduces alterations in muscle
mass, body fat and bone strength. In many ways, these characteristics
are opposite those associated with fibrillin-related
mutations in Marfan syndrome. Because MAGP1 and fibrillin
are binding partners, the results suggest that mutations in
fibrillin might also influence MAGP function, which could
help explain the variable traits associated with Marfan
syndrome.
Hiromi Yanagisawa, MD, PhD
University of Texas Southwestern Medical Center, Dallas,TX
$50,000 one-year award
Investigation ofthe Potential Role of Fibulin-4 in the
Pathogenesis of Marfan Syndrome
This laboratory has developed amouse model for human
thoracic aortic aneurysm bydeleting agene called fibulin-4
(Fbln-4). In this animal model, it was noted that theimmature
smooth muscle cells play asignificant role in the progression
of the aortic aneurysm. Similar observations can benoted in
fibrillin-1-null mice aswell as in subsets ofhuman thoracic
aortic aneurysms caused by mutations in smooth muscle specific
contractile genes. This study emphasizes the importance
of elastic fibers/microfibril-associated proteins inmaintaining
the differentiation ofsmooth muscle cells in the vessel wall.
This investigation ofthe role of fibulin-4 inMarfan syndrome
will yield importantinformationonthe molecular causesof
the disease and help develop better therapeutic strategies.
Jennifer Pardo Habashi, MD
Johns Hopkins Hospital, Baltimore, MD
$50,000 one-year award
Exploration ofSynergistic Therapeutic Strategies with Losartan
to Improve All Cause Survival in an Exaggerated Mouse Model
of Marfan Syndrome
Using another Marfan mouse model, this laboratory has been
able todemonstrate aclear survival benefit with losartan
treatment over placebo and afurther survival benefit using
high dose losartan. Until now, the mechanism of pathogenesis
has focused around TGF-β driving amolecule known as
pSmad2. However, this laboratory has recently been able to
proveasignificant contributionfromother signaling pathways,
specifically the ERK signaling pathway. Another mouse
treatment study with an ERK signaling antagonist will begin
shortly inaddition toacombination therapy study with
losartan and the ERK antagonist. This study will lead to
other possible therapeutic strategies for Marfan syndrome.
McKusick Fellowship
Connective Issues
Ami Bhatt, MD
Vascular Research Center, Brigham and Women’sHospital,
Boston, MA
$150,000 two-year award
Improving Aortic Health in Adults with Marfan Syndrome:
Losartan vs. Atenolol.
The purpose of this grant istocompare the effects ofthe
medications losartan and atenolol on the stiffness ofthe heart
and aorta of adults with Marfan syndrome.This isatrial for
adults who have never had anaortic dissection oraortic/
cardiac surgery. The aortic wall isoften stiff inadults with
Marfan syndrome, even ifaortic size is relatively normal.
The trial involves anon-invasive ultrasound of the heart and
theaorta beforeand aftersix months of treatment with losartan
or atenolol. Currently the trial has 30ofthe 50 patients
needed to complete the study (see page 22tofind out how
to participate). This study will help determine iflosartan can
improve aortic health inpatients with Marfan syndrome.
Support NMF Research:
Contribute to the Research Drive
Pleaseremember to respond to the NMF’s ResearchDrivemailing
by sending in your contribution today. Or, you can donate online
at www.marfan.org. Thank you!
Volume 29, No. 1 5

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Connective Issues
Be Part of the Solution:
Participate in Marfan Syndrome Research
Atenolol vs. Losartan Clinical Trial
Aclinical trial to compare the effects ofthe drugs atenolol
and losartan on people with Marfan syndrome began in2007.
The clinical trial is based on research that showed adrug
known as losartan prevented enlargement of the aorta and
other Marfan features inmice that have Marfan syndrome.
The trial is funded by the National Heart, Lung, and
Blood Institute (NHLBI) of the National Institutes ofHealth
(NIH),and conducted by thePediatric HeartNetwork (PHN).
The NMF is also helping tosupport the trial. Please check
the NMF website for more information orcall the NMF at
800-8-MARFAN.
To participate in the trial aperson must:
• Bebetween the ages of six months and 25years at the
time of enrollment. (No more than 200 of the 604
participants can bebetween 16 and 25years of age.)
• Meet theGhent criteria for diagnosisofMarfansyndrome.
• Have anaortic root measurement with a“z-score” of
greater than 3(a z-score isameasurement that considers
aortic size in relation toaperson’s weight, height and
body mass.)
• Not be pregnant.
• Not have had any previous aortic surgery.
• Beable totolerate beta-blockers and losartan.
• Not need to take abetablocker for somemedical problem
other than adilated aorta.
• Commit and beable tohave all echocardiograms done
at astudy site.
Winter 2010
Atenolol vs. Losartan Clinical Trial
123 more participants are needed for this potentially lifesaving
clinical trial. Visit www.marfan.org to find study sites.
Call 800-8-MARFAN, ext. 26, to learn about financial
assistance for travel tostudy sites.
Maggie Murphy, 9, of
Manchester, NJ, is
participating in Marfan
syndrome research.
Why don’t you join her
and enroll today?
National Registry ofGenetically Triggered Thoracic Aortic
Aneurysms and Cardiovascular Conditions (GenTAC)
This registry collects clinical data and samples on patients
with aneurysms and dissections that are caused by genetic
alterations. The registry is looking to enroll patients with the
following syndromes:
• Marfan syndrome
• Bicuspid Aortic Valve
• Loeys-Dietz syndrome
• Familial thoracic aortic aneurysms and dissections
• Turner syndrome
• Vascular Ehlers Danlos syndrome
• Familial bicuspid aortic valve
• Aneurysms/dissections

The American Heart Association’s(AHA) Scientific Sessions,
held in Orlando, November 15–17, gave cardiologists from all
over theworld an opportunity to learn about Marfan syndrome
through presentations, posters and the NMF exhibit.
NMF Professional Advisory Board member Hal Dietz,
MD, was honored by the AHA with the George E. Brown
Memorial Lecture. His presentation, Marfan Syndrome and
Related Disorders: From Molecules toMedicine, addressed the
latest research developments inthese conditions and offered
news about potential therapies (see cover story). Nearly 500
doctors were inattendance.
Another well-attended session was the series oflectures
on The Genetics of Aortic Aneurysm.The speakers included:
• Reed Pyeritz, MD, PhD: Marfan Syndrome: Insight to
Treatment from Mouse Model of Marfan Syndrome
• Bart Loeys, MD: Loeys-Dietz Syndrome: Update on
Clinical Features and Pathogenesis
• Dianna Milewicz, MD, PhD: Familial Thoracic Aortic
Aneurysms and Dissections: Identification ofNovel Genes
Provide Insight into General Vascular Disease
In addition, Kim Eagle, MD,gaveapresentationonGenTAC,
the national registry of genetically-triggered aneurysms (see
GenTAC on previous page tofind out how toenroll).
Connective Issues
American Heart Association Attendees Get Update
on Marfan Syndrome and Related Disorders
PAB and SAB News
Professional Advisory Board
The program project grant (P-01) entitled “Consortium for
Translational Research inMarfan Syndrome” was renewed
for another five years by the National Institute of Musculoskeletal
and Skin Diseases. The principal investigators of the
project are PAB members Drs. Francesco Ramirez, Lynn
Sakai and Hal Dietz, along with Dr. Dan Rifkin.
Dr. Lynn Sakai received an
ARRA Challenge grant from
NIAMS to study microfibril fragmentation
inMarfan syndrome.
Dr. Paul Sponseller gave the
Kathryn Ober Lecture onMarfan
Syndrome at Indiana University.
Dr. Reed Pyeritz was named
Senior Fellowofthe Leonard Davis
Institute for Health Economics,
University of Pennsylvania.
Paul Sponseller, MD
NMF volunteer Chris Ihde, with Eileen Masciale and Jonathan Martin
at the NMF’s exhibit at the AHA meeting in Orlando
More than three hundred doctors and other medical
professionals stopped bythe NMF booth during the threeday
exhibit. Jonathan Martin, Director of Education and
Awareness, and Eileen Masciale, Director of Communications,
had anopportunity to meet the attendees, talk about the
losartan vs.atenolol clinicaltrial,provide followupinformation
related to the lectures given by the various Marfan experts and
inform them about all the NMF has tooffer for their patients.
Special thanks to NMF member Chris Ihde, ofCape
Canaveral,FL, whohelped staffthe boothduringthe meeting.
Scientific Advisory Board
Dr. Christine Seidman gave a
Harvey Society Lecture atColumbia
University Medical Center.
Dr. Craig Basson was awarded
the Gladys and Roland Harriman
Professorship inMedicine and was
elected to the Association of
Christine Seidman, MD
University Cardiologists. In addition,
he received an ARRA Challenge grant from NHLBI to
study microRNAs in cardiac development.
Dr. Bruce Gelb was appointed Program Chair of the
Pediatric Academic Societies Annual Meeting for 2010-2011
and Director of the Children’sHealth and Development
Institute of Mount Sinai School of Medicine. In addition, he
became an appointed member ofthe National Children’s
Study Advisory Committee and the Editorial Board for
Circulation Research.
Volume 29, No. 1 7

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Connective Issues
National Health Council Webinar on Healthcare Reform
On October 13, the National Health
Council (NHC) hosted awebinar for
patient advocacy organizations to give
them an update on healthcare reform
legislation before Congress and todiscuss
how the proposed legislation will affect
people with chronic conditions and
their family caregivers. NMF member Maya Zimmerman
participated and shares key points from the webinar here.
As most people are aware, the goals of healthcare reform
are toexpand coverage, improve access and reduce cost.
There are many pieces to making anaffordable puzzle work:
an individual mandate; low income subsidies; insurance
reforms; Medicaid expansion; an insurance exchange; and an
employer mandate. Before President Obama can sign the
bill, the House and Senate versions must be reconciled.
Important messages for the public are:
• Consensus around key reform themes is emerging:
coverage and insurance market reforms, delivery and
payment system reforms, and financing strategies
(e.g., industry deals).
• Certain elements (like apublic plan) remain undecided
and controversial.
• Many steps remain in the legislative process.
• Although the target for legislation isyear-end (2009),
implementation would span several years.
Before the conclusion of the webinar, participants were given
an opportunity toask questions. Following are some excerpts.
How will healthcare reform affect those with pre-existing
conditions?
Starting in2013, insurance companies would be required to
offer coverage for all citizens and not exclude for pre-existing
conditions. Beginning in 2010, ahigh-risk pool will start for
those denied insurance due topre-existing conditions. Participants
will pay apremium for that coverage. The healthcare
plan will cost $5 billion, which probably won’t be enough,
but it’s astart.
Ihave great health coverage now.Why should Isupport healthcare
reform?
Youshould support healthcare reform because you want to
keep that coverage. These new changes will allow you the
freedom to change jobs and not have to worry about healthcare
coverage like you might need to today.These bills take
steps tolower the cost growth in healthcare by different
Winter 2010
payment systems, coordinated care for those with chronic
illness, etc. Should you develop acondition later oninlife, it
won’taffect your insurance.
Many people with chronic conditions have multiple medical
issues and they complain their care is very uncoordinated. How
will healthcare reform improve the delivery ofcare for people
with chronic conditions?
This is awork inprogress. There are programs to lower the
co-pays for preventative work. There are calls for better
incentives to do the right thing. There isn’t achronic illness
program in either bill, but alot of the changes/incentives
being suggested are trying toimprove care for people with
chronic conditions. There’s noone-size fits all approach, but
alarge packet of many improvements.
The NHC provides avoice for the millions of people with
chronic diseases and disabilities and their family caregivers.
Alink tothe slide presentation from the webinar is available
at www.nationalhealthcouncil.org.
Healthcare Coverage and Insurance:
New Resources Online
The NMF continues to provide new offerings on its website,
www.marfan.org, to help people withMarfan syndrome and related
disorders.Two newsectionswererecently unveiled in the section
about Living with Marfan syndrome: Healthcare Coverage and
Supplemental Security Income (SSI)/Social Security Disability
Insurance (SSDI).
Access to proper healthcareand insurance is importanttoeveryone,
especially people living with chronic health conditions such
as Marfan syndrome and related disorders. The NMF advocates
for government policies and resources that improve access to
healthcare for the Marfan syndrome and related disorders community.
Still, itisimportant to understand your personal options
and how toaccess affordable quality healthcare.
The section onHealthcare Coverage provides background information,
tips for applying and making appeals and aglossary of
key terms. The section about SSI and SSDI describes the two
programs and provides information about eligibility and how to
apply. Italso offers helpful tips for asuccessful application and
aglossary of important terms.
To access this information, visit www.marfan.org, click on Living
withMarfan Syndrome and then click on HealthcareCoverageor
SSI/SSDI onthe left side of the page.

MedQuest: Answering Your Questions
Should people with Marfan syndrome receive
special priority receiving aswine fluvaccination?
No special priority is necessary based on the Marfan syndrome
diagnosis. The guidelines for the general population would
apply.
Is there any connection between Marfan
syndrome and mental retardation?
There isabsolutely no connection between Marfan syndrome
and mental retardation. However, having one disorder does
not prevent an individual from having any other disorder(s)
as well. There is, however, aconnection between mental
retardation andthe relatedmetabolicconnectivetissue disorder,
homocystinuria. Mental retardation is also afeature of
Shprintzen-Goldberg Syndrome, another disorder related to
Marfan syndrome (see page 10).
Are there any special considerations for
someone with Marfan syndrome when they
have acolonoscopy?
There are no reported problems with having acolonoscopy
that are related to Marfan syndrome. Specifically, there isno
data on Marfan syndrome that provides evidence of any
Connective Issues
In this issue ofConnective Issues, the focus is on questions that are repeatedly asked of the Information Resource Center.
‘fragility’ ofthe colon. People with Marfan syndrome would
have the same risks as in the general population when having
this procedure.
However, people with Loeys-Dietzsyndromeshould advise
their physician about their diagnosis before undergoing a
colonoscopy. There have been reports ofbowel rupture in
this population.
Are there any special foods or nutritional
supplements that are particularly beneficial
for those with Marfan syndrome?
There aren’tany special foods orsupplements recommended
for Marfan patients. There isnoevidence of any specific deficiencies
in Marfan syndrome.The general recommendation is
to maintain awell balanced diet with nutritional snacks,
focusing on the national nutritional guidelines that advocate
alow fat and low salt diet, with appropriate portions of
vegetables, fruits and grains related toage and overall body
weight. Please note that itisrecommended that people on
Coumadin avoid sudden changes in their diet that add any
food or supplement that contains vitamin K. Anyone who
plans totake nutritional supplements should discuss them
with their doctor to ensure they are safe totake with other
medications that are prescribed.
SAVE THE DATES!
The Marfan Gala: Tenth Anniversary of the Flagship Event
April 22, 2010 v Cipriani 42nd Street v New York City
Second Annual Inaugural
Third Annual
March 6,2010
ATLANTA
May 6,2010 May 22, 2010
Volume 29, No. 1 9

10
Connective Issues
RELATED CONNECTIVE TISSUE DISORDERS
RCTD Learning About Related Disorders
Sometimes, people have adifficult time getting the correct diagnosis when they have adisorder that is believed
to be rare.This istrue for many with Marfan syndrome, which requires aclinical examination ofmultiple body
systems (skeletal, ocular, cardiovascular) along with afamily history. Insome cases, it’s amatter of determining if an individual meets
the criteria for Marfan syndrome. Inother cases, doctors may be trying to determine which of several disorders an individual has. The
most important reason for getting the right diagnosis is for proper treatment and ongoing evaluation. It is also important that people are
not labeled with adiagnosis if they do not truly have the condition. In this issue ofthe newsletter, the focus is on three conditions that
are related to Marfan syndrome: Weill Marchesani Syndrome, Shprintzen-Goldberg Syndrome and Mitral Valve Prolapse Syndrome.
Weill Marchesani Syndrome
What is it?
Weill Marchesani syndrome is aconnective tissue disorder
that affects the skeleton, the eyes and, occasionally, the heart.
How does itcompare toMarfan syndrome?
Weill Marchesani syndrome differs from Marfan syndrome
by having opposite features inthe skeletal system: short
stature, short fingers and toes and joint stiffness. Affected
people have small, sphere-shaped lenses and can have heart
defects orabnormal heart rhythm. Like those with Marfan
syndrome, they may be near-sighted and develop glaucoma.
Whilepeople with Marfan syndrome andWeill Marchesani
syndrome are distinct in their outward physical appearance,
these two conditions are related because of their opposing
features. Like Marfan syndrome, Weill Marchesani syndrome
can result from FBN1 mutations and mutations in aprotein
that interacts with fibrillin-1. Researchers looking at one
syndrome may be able tolearn about the other as they study
the signaling that leads one to bone overgrowth (Marfan
syndrome) and the other to bone undergrowth (Weill
Marchesani syndrome).
Shprintzen-Goldberg Syndrome
What is it?
Shprintzen-Goldberg syndrome is adisorder characterized by
craniosynostosis (premature fusion of skull sutures), distinctive
craniofacial features, skeletal changes (dolichostenomelia
[unusually long limbs], arachnodactyly [long spider-likefingers],
camptodactyly [deformity of the finger], pes planus [flat feet],
pectus excavatum orcarinatum [indented or protruding
chestbone], scoliosis [curved back], joint hypermobility or
contractures), neurologic abnormalities, mild-to-moderate
mental retardation, brain anomalies (hydrocephalus [water on
the brain], dilatation ofthe lateral ventricles [enlargement of
particular arteries inthe brain], and Chiari 1malformation
[condition inwhich brain tissue from the back ofthe brain
protrudes into the spinal canal]), and cardiovascular abnormalities
without aortic root dilatation.
Winter 2010
How does itcompare toMarfan syndrome?
Shprintzen-Goldberg syndrome and Marfan syndrome share
similar physical features, such as long limbs and long, spidery
fingers, joint hyperextensibility, and an indented or protruding
chest bone. Like some patients with Loeys-Dietz syndrome,
Shprintzen-Goldberg syndrome patients have craniosynostosis.
Lens dislocation, aclassicfeature of Marfan syndrome,isnot seen
in Shprintzen-Goldberg syndrome.Furthermore,exophthalmos
and craniosynostosis are not features ofMarfan syndrome.
Mental retardation is characteristic of Shprintzen-Goldberg
syndrome, but is not associated with Marfan syndrome.
Mitral Valve Prolapse Syndrome
What is it?
With mitral valve prolapse (MVP) the flaps of the valve do
not close evenly. One or both flaps collapse backwards,
sometimes allowing asmall amount of blood to leak through
the valve.This isfairly common inthe general population and
is treatable. About 40 percent of people with mitral valve
prolapse also have an imbalance of the autonomic nervous
system, orANS, called dysautonomia. The ANS is composed
of two systems: the parasympathetic and the sympathetic. It
controls virtually all bodily functions, such as respiration,
heartbeat, blood pressure, vision and digestion. When this
system is out of balance it can cause myriad symptoms,
includingpanic attacks, anxiety,fatigue, palpitations, migraines,
irritable bowel syndrome (IBS) and more. This combination
of symptoms is known as MVP Syndrome.
How does itcompare toMarfan syndrome?
The overlapping feature between MVP syndrome and Marfan
syndrome is mitral valve prolapse. As aresult of this characteristic,
people with both conditions may experience shortness
of breath and alow energy level, which can be alleviated with
medication for the MVP.The ANS issues are not associated
with Marfan syndrome.
For more information onconditions related to Marfan syndrome,
visit www.marfan.org and click on Related Disorders.

Join the NMF in the Lone Star State
for the 2010 Annual Conference
The NMF 26th Annual Conference is heading for Houston,
TX, July 8–11, 2010. Come enjoy great Southwest hospitality
in the middle ofavibrant city while sharing inaunique
educational and fun-filled weekend with your family and
others with Marfan syndrome and related disorders.
TheNMF is pleased to be partneringin2010 with Baylor
College of Medicine and the University ofTexas Health
Science Center at Houston, both internationally-renowned
institutions of clinical care, biomedical research and professional
education. Conference programs will beled by experts
from these two prestigious institutions and members of the
NMF’s Professional Advisory Board.
All conference activities will beheld at the InterContinental
Houston, conveniently located within walking distance
of local restaurants and the Houston Galleria, Texas’s largest
shopping mall.
What Can YouExpect from Your Conference Experience?
• Listen tothe experts and have an opportunity toask
questions at the general session, featuring presentations
about surgery, research and other aspects ofMarfan
syndrome and related disorders.
• Choose from numerous medical and psychosocial
workshops ranging from “Cardiac Issues” to“Developing
Your Emergency Plan.”
• Take part insupport groups for parents, young adults,
unaffected spouses and other special interest groups.
• Make anappointment for aclinic assessment at Baylor
College of Medicine with cardiologists, orthopedists,
ophthalmologists, genetic counselors and other specialists.
• Make new friends ataTexas-style welcome reception as
well as other organized social activities.
• Hear your peers talk about their personal experiences
with Marfan syndrome or arelated disorder atthe
“Living Successfully” luncheon panel presentation.
“We just returned home from the 2008 Conference.
WOW was it great! ... We learned so much in just the
firsttwo hours thatwedecided it wouldbeanannual
event for usfrom now on.”
Conference Programs for Children and Teens
Throughout the weekend there will bespecial educational
programs, field trips and fun activities for children (ages 5–12)
Connective Issues
and teens (ages
13–18). Unaffected
siblings and friends
are also welcome to
take part inthese
programs. Youngsters will have the opportunity to learn
about Marfan syndrome and related disorders inanageappropriate
and compassionate environment, and return
home with new friends and tools for living. Note: Children
and teens attend conference free ofcharge if accompanied by a
registered adult.
Conference Scholarship Program
If financial issues make itdifficult for you and your family to
attend the conference, consider applying for aconference
scholarship. Alimited number ofscholarships are available
to cover registration fees and hotel accommodations. Priority
is given tofirst-time conference attendees with limited access
to specialized medical care at home. Application information
and deadlines will beposted on the NMF website.
The general medical sessions bring new and updated medical and research
information to conference attendees.
Make aConference Donation
We need your help to continue offeringconference scholarships
and tohelp underwrite the children and teen programs so we
can continue to provide them free of charge. Please support
these programs by making adonation (online at www.marfan.org
ormail your check to the NMF, 22Manhasset Ave.,
Port Washington, NY 11050). For additional information
on how your donation can help, contact Maggie Hogan,
Director of Foundation Relations and Conference Planning,
at mhogan@ marfan.org or800-8-MARFAN, ext. 38.
Visit the NMF website (www.marfan.org) inFebruary for
additional information.Sign up on our websitefor the NMF’s
Email Network to be among the first to receivedetails.
Volume 29, No. 1 11

Connective Issues
Have He♥rt, Have He♥rt Challenge and Hang-a-Heart:
Which One Is For You?
The have he♥rt campaign began in 1991 as an opportunity for friends of the NMF to
support the Foundation’s core programs in the areas of public awareness, medical
education, support services and legislative advocacy.
12 Winter 2010
Early on, the campaign consisted of members writing letters to friends, family
members and neighbors to raise money and build awareness for the
Foundation. Now, each year to celebrate Marfan Syndrome Awareness
Month, the NMF sends amailing toall of its members requesting
support.
♥ Check your mailbox for the have he♥rt campaign
mailingorvisit our websiteatwww.marfan.org and
click on Donate to lend
your support.
February is National Marfan Awareness Month. This is atime when
the NMF tries tomaximize fundraising and awareness opportunities,
andthereissomething for everyone whoispartofthe
Marfan syndrome and related disorders community.
Which one fits your style?
Another option is the Hang-a-Heart project. Help raise awareness and funds for the NMF byasking
localbusinesses or schools to “sell” our redpaper hearts and hangthem prominently forall to see—a
greatway forbusinesses to showtheyhaveaheartfor Marfan syndrome! Hang-a-Heart is afun, easy
waytoraise funds forthe NMFand raise awarenessabout Marfan syndrome. Thereisnocost to you
or to participatingbusinesses.
To makeiteasy foryou to approach businesses or schoolsabout participating, the NMF will
provide you with avolunteer kit, including tips for you, the volunteer, and also
detailed information about Hang-a-Heart,including sample hearts, to sharewith
the businesses.
If you’re not already hanging hearts for Marfan syndrome, don’t
worry, it’s not toolate! While February, National Marfan Awareness
Month, isaperfect time for businesses to display the red paper
hearts, anytime of the year will work just as well.
♥ To receive your kit(s), or if you have any
questions, contact Cathie Tsuchiya, NMF
Local Fundraising Coordinator,
at 800-8-MARFAN, ext. 13, or
ctsuchiya@marfan.org.
CHALLENGE
In 2008, the NMF announced the addition of the have
he♥rt challenge, sponsored by Neuco, Inc., and the
Neustadt family.Throughthis challenge, funds raised will
be matched, dollar-for-dollar, by Neuco, Inc., up to
$10,000. You can reach out to friends, family members,
neighbors and co-workers and raise moneythroughaletterwriting
campaign or an event.
♥ Visit www.marfan.org, click on
Donate and then onhave
he♥rt campaign to get
your have he♥rt
challenge
kit.
Roses Are Red
Violets Are Blue
IGave to the NMF
to Show My
Love Is True!
Your Name Here
www.marfan.org

In My Hands, the powerful documentary about Marfan
syndrome created byAnn Reinking, Brenda Siemer Scheider
and Emma Joan Morris, appeared in its first film festival this
fall and received national media attention.
In October, In My Hands was screened at the Hamptons
International Film Festival, where theatergoers—including
luminaries from the film world—had an opportunity toview
the documentary. After the October 8screening, the theater
full of attendees were breathless.
Said Academy Award-winning actor Mercedes Ruehl, “It
is clear that when nature mutates, the results are beautiful.”
Just afew weeks later, the NMF’s Director of Education
andAwareness Jonathan Martin,who knewofRosieO’Donnell’s
passion for theater and documentaries, was able toget acopy
of In My Hands to Rosie. As Jonathan anticipated, Rosie
loved the film and wanted toknow how she could help.The
result was ahalf-hour segment featuring Ann Reinking on
Rosie’s new radio show onSirius/XM Satellite Radio on
November 10(visit www.marfan.org and click on the Rosie
Radio link to hear the entire interview).
Rosie was clearly excited bythe documentary. She told
us that it is a“beautifully choreographed film from start to
finish; it both inspires and informs.”
Following the segment, the NMF made the documentary
Connective Issues
Marfan Documentary, In My Hands, Gaining Recognition
Join Our Online Community
Feeling alone? Need someone to talktoabout Marfan syndrome?
Someone who knows what it’s like? Someone who’sbeen there
before? Thereare anumberofNMF communitiesonline that
aretherefor you, regardless of your locationoryour time zone.
First, try NMFconnect, the NMF’s own social network.
Access it through the NMF website, www.marfan.org, create
your profile and find agroup that meets your needs. Can’t
find one? Then start your own.
On Facebook, you can become afan ofthe NMF page
and support the Official National Marfan Foundation Cause.
In addition tomeeting people in the Marfan community,
you can find links to articles, videos and photos of interest
to those who have Marfan syndrome and related disorders.
Youcan also follow the NMF on twitter @NMF-Marfan.
And, while you’reonline surfing for Marfan-related content,
Brenda Siemer Scheider with Mercedes Ruehl at the screening of
In My Hands in East Hampton, NY.
available toindividuals and families affected by Marfan syndrome.
They can request acopy ofthe film ($25 shipping
and handling) online. This is an exclusive offer for the Marfan
community; any other interested groups (schools, hospitals,
medical professionals, libraries, etc.) have the option ofpurchasing
thefilmfromFilmakersLibrary. Excerpts areaccessible
for viewing online at www.marfan.org.
log on to theNMF channel (username:NationalMarfanFndtn)
on YouTube towatch videos that have been developed for
education and awareness, tributes and more.
The NMF continues to alert members to news and happenings
through its Email Network. Simply join bysubmitting
your information via the NMF website. Not an NMF
member yet? Youcan make your membership donation
online as well.
As with any online interaction, remember toprotect
your privacy and use common sense when sharing information.
In addition, note that only medical information that is
clearly provided bythe NMF has been approved by the
Foundation’sProfessional Advisory Board. Always check
with your doctor when considering medical advice related to
your condition.
Volume 29, No. 1 13

14
National Volunteer Network
Northern Illinois Chapter
Members of the Northern Illinois Chapter, led by President
Bruce Klein, along with members of the Paramount Tall
Club, participated inthe Schaumburg, IL, Labor Day Parade
on September 7toraise awareness of Marfan syndrome.The
effort was fitting asmore than 250,000 people watched the
parade, which celebrated the 200th birthday of Abraham
Lincoln, who many believe had Marfan syndrome.
Bruce, along with Barbara Neustadt, also staffed adisplay
with information about Marfan syndrome and related disorders
at the annual Illinois Academy of Physician Assistants
(IAPA) CME Conference on October 9–11 at Midwestern
University in Downers Grove.The meeting was attended by
more than 100 physician assistants from across the state.
Massachusetts Chapter
Achapter
get-together
was held on
September 26
at the home
of chapter
president, Jon
Rodis. In
addition to
Massachusetts Chapter
having time to
talkand socialize, planswerediscussed for thechapter’s
“Celebration ofMarfan Life and History” fundraising and
awareness event that is taking place on May 1.
Winter 2010
Chapter News: Each
Bruce Klein (in Lincoln hat) with members of the Northern Illinois Chapter
St. Louis Chapter
St. Louis Chapter members Amy Striker holding Tyren Thompson,
and Brooke Pulliam and her younger sister Riley.
The St. Louis Chapter held ajewelry sale fundraiser during a
craft fair on October 31atParkway West High School in
Ballwin, MO. They raised more than $200.
Heart ofIowa Chapter
The Heart ofIowa Chapter held its 7th Annual Comedy
Night at the Stoner Theater Civic Center in Des Moines on
October 24toraise awareness about Marfan syndrome. In
addition, the Chapter participated inits fifth annual corn
maze fundraiser, volunteering atlocal corn maze and benefiting
from admissions. Despite inclement weather, the
Chapter raised about $2,000.
Haley and Adam Dostalik having fun inthe corn maze
Tall Club News
The Tall Club of Rochester (NY) held afundraiser during its
2009 “Weekend about Nothing—A Tall Tribute toSeinfeld” and
raised $315 for the NMF. An additional $285 will be added in
matching gifts, bringing the total raised to $600.

One Reach One
Northern California Chapter
The 9th Annual Chapter Family BBQ and Fundraiser took
place onOctober 3atthe home ofToni and Mark Greves
in Castro Valley. More than 75chapter members and friends
attended and through raffle ticket sales (coordinated by
Maya Zimmerman), crocheted scarf sales (handmade by
Susan Meier) and agenerous donation (Steve and Cheryll
Gasner), $3,000 was raised tosupport theThird Annual
Regional Marfan Educational Symposium in Northern
California, scheduled for May 1.
Northern California Chapter BBQ
Los Angeles/OrangeCounty Network Group
The Los Angeles/Orange County Network Group held its
annual brunch, sponsored by Roelina and Chuck Berst,
Albert and Rita Harris and Regine and Jerry Bluestein at
the UCLA Faculty Club.The guest speakers were Joseph K.
Perloff, MD,Professor of Medicineand Pediatricsand Founder
of the UCLA Ahmanson Adult Congenital Heart Disease
Center; Gergory Perens, MD,Pediatric Cardiologist at Mattel
Children’sHospital, UCLA; and Pamela D. Miner, RN,
MN, NP, Nurse Practitioner at the UCLA Ahmanson Adult
Congenital Heart Disease Center. More than 75people were
on hand for this fun and educational event.
Twin Cities Minnesota Chapter
Six members of theTwin Cities Chapter participated inthe
Community DayEvent on November14through theBon-Ton
family ofstores. For this Community Day, chapter members
sold coupon books filled with store coupons for $5 each. The
chapter was able tokeep 100 percent of the proceeds from
the sale ofthe coupon books; $375 was raised.
The next Community Day Event is February 27. This is
agreat way for network groups and chapters to raise funds.
If there isastore inyour area that participates (such as Bon-
Ton, Elder-Beerman, Bergner’s,Boston Store, Carson’s,
Herberger’s,Younkers and Parisian), please contact Cathie
Tsuchiya at ctsuchiya@marfan.org for details.
National Volunteer Network
Network Group News
The North Dakota Network Group met onSeptember 12 to
share news from the NMF Annual Conference and plan their
participation in the Hang-a-Heart fundraiser inFebruary.
Omaha Network Group had aPotluck Picnic on September 19
to celebrate the group’s third anniversary.
Capitulo Hispano de Illinois, the NMF’s first Network Group for
Spanish-speaking members, met to discuss filing for SSI and
SSD, with Lisa Torres from the Chicago Social Secuirty Office.
They are planning abake sale fundraiser.
The Northeast Indiana Network Group met onOctober 24 at
Parkview Women’s Health Center in Fort Wayne. The guest
speakers were Ali P. Shariari, MD, of Indiana University School
of Medicine, and Susan Romie, MS, CGC, coordinator of the I.U.
Marfan Syndrome Program. The Central Indiana Network
Group held ameeting on November 23 at Methodist Hospital
with the same guest speakers.
The new Phoenix Area Network Group had its first meeting,
hosted byco-chairs Steve and Amy Jerome.
The Detroit Network Group met atWayne State University on
November 8tosocialize and share their Marfan experiences.
Group members talked about lessons learned and shared
advice with each other.
The Network Group of Houston met on November 29 to
continue organizing volunteer efforts for HeartMart and
fundraising for the 2010 Annual Conference in their city.
Members from the San Antonio Network Group and from
Austin have also committed their volunteer support.
The Eastern North Carolina Network Group welcomed guest
speaker Stephanie Burns Wechsler, MD, of Duke University, to
their meeting on December 5atthe Gaskins Leslie Center in
Greenville, SC. Medical professionals, students, teachers and
families who affected by Marfan syndrome and related disorders
were invited to attend.
Emerging Chapter and New Network Group
The Baltimore/Washington Network Group has merged with
the Richmond Area Network Group to become the proposed
Mid-Atlantic Chapter. The group will include Washington, DC,
Delaware, Maryland and Northern Virginia. We wish the best to
Mary Ahearn, President, and her new board.
The NMF welcomes its newest Network Group in the Silicon
Valley. The group met for the first time on December 11 at
Stanford University. The Network Group chair is Maya
Zimmerman, 614-551-0609.
Volume 29, No. 1 15

16
National Volunteer Network
Pro-cuts Summer Fundraiser
Laura and Mike Faust, with son
Ben, ataPro-cuts salon in Tucson
Alice’s Angels
In July, Pro-cuts salons in Tucson,
AZ, held amonth-long fundraiser
for the NMF.The kickoff was
held on June 27, with alive onsite
broadcast byalocal radio station.
Among those in attendance
were NMF members Laura,
Mike and Ben Faust.The
fundraiser resulted in $525 for
the NMF.
Alice’s Angels, aBeef and
Beer fundraiser, was held on
August 15 in Crum Lynne,
PA.The event was organized
by AliceKelly of Havertown,
PA, inmemory ofher
Alice Kelly and friends
belovedaunt, Alice Martin-
Jennings. Alice increased the success of the event by also
raising money through her online personal fundraising page
(through Firstgiving).The total raised came to $2,831.
Andrew Hoien Memorial Volleyball
Tournament
Asix-on-six sand
volleyball tournament,
organized by
Aaron Hanshaw,
friend of the late
Andrew Hoien,
took place onJuly
26 at Lea McKeighan
Park in Lees Summit,
Aaron (second from left) and the Hoien family
MO.There were 72
playersinthe tournament andnearly120 people in attendance.
Close to $1,000 was raised for the NMF.
Golf Outing
Steve Banke, ofLaGrange Park, IL, and his company 3
Points, LLC, held agolf outing onJuly 9. They raised $1,505
for the NMF inmemory ofSteve’s brother, Christian Banke.
Winter 2010
People People &
Strides for Sarah
Strides for Sarah, a5Krace/1 mile walk, took place on
October 24atMcAllister Park in San Antonio, TX, with
nearly 100 people participating. The event was organized by
Rachel Epperson of San Antonio inhonor of her three-yearold
daughter, Sarah, who has Marfan syndrome. Rachel and
Sarah appeared, with Sarah’s cardiologist, onSan Antonio
Living, alive program on the
local NBC station, to talk
about Marfan syndrome.
Fundraising was equally
successful. Through the walk
and apersonal fundraising
page onFirstgiving, Rachel
and Sarah raised more than
$6,700 for scholarships for
the NMF Conference in
Houston in 2010.
Sarah Epperson with her parents
Rachel and Lee
Hounds Helping Hearts—
Walking the Dog for Marfan Syndrome
Amy and Daniel Speck of Knoxville, MD, together with
Daniel’s Tail Waggers 4-H club, organized Hounds Helping
Hearts on October 24. Although the weather was nasty, the
event was asuccess. An agility course was set up for the dogs
to participate in before the walk began. Afterwards, the rain
came down heavily sodogs and owners hurried back tothe
pavilion where there was asilent auction and aMarfan syndrome
display. Owners had dogs do various tricks for which
they received anevent bandana (for the dog). Atotal of
$3,151 was raised for the NMF from on-site donations and
through Firstgiving.
Daniel Speck, holding donation check, with members of the Tail Waggers 4-H Club

Events Events More
Health Fair
Denise Gregory,
of Lucasville, OH,
works for Shawnee
State University,
whereaHealthFair
was held on October
28. Using materials
provided bythe NMF, Denise created adisplay about Marfan
syndrome including photos of her 25 year old son, Michael,
who passed away in December 2008 from an aortic dissection
caused by undiagnosed Marfan syndrome. Itisher goal to
spread awareness about the disorder tohelp prevent other
families from experiencing asimilar tragedy. Denise keeps
the display in her office to raise awareness year-round.
Eric Wika Memorial Car Show
The Eric Wika Memorial Car Show took place onSeptember
27 at the Fruityards in Modesto, CA. Nearly 100 cars were on
view atthe show, which was held in memory of Eric Wika
who passed away in May. Thousands offlyers were distributed
at other car shows that took place inthe previous weeks; in
addition, the event was mentioned in at least two local papers.
Beautiful awards that were designed and created byEric’s
brother, Michael, and his friend were presented and $3,338
was raised for the NMF in Eric’s memory.
Hampton’s Half Marathon
Eric Rosee,ofDallas, TX,ran in theHampton’sHalfMarathon
on September 26in
East Hampton, NY,
in memory of young
family member
Kaitlyn Anthony.
He created apersonal
fundraising page
through Firstgiving
and raised $2,075 for
Eric Rosee and his parents the NMF.
Sweets Tasting
Shawnee State University students
helping at the Marfan exhibit
Josy Villarubbia, ofChicago, IL, held aSweetsTasting Night
in October toraise awareness about Marfan syndrome among
family and friends. In addition toanswering many questions
about Marfan syndrome,donations totaling$52 were collected.
National Volunteer Network
Memorial Page
Erin Moran, ofHampton, VA,created afundraising page
through Firstgiving inmemory ofher sister, Patricia Moran,
who passed away in October 2008. To date, more than
$1,100 has been donated inPatricia’s memory, including
nearly $300 through the page that Erin created.
Birthday Fundraiser
For Maggie Baltz’s 11th birthday party, she requested that, in
lieu of gifts, donations be made to the NMF in honor of her
uncle, Jay Elliott. Maggie, of Millstadt, IL, raised $225 and
asked that these fundsbeused towards conference scholarships.
Marathons
On November 15, Jon Gould,
of Verona, WI, ran his fourth
marathon of the year, the San
AntonioRock ‘n Roll Marathon.
(His wife, Beth, walked the
half marathon.) His goal was
to run four marathons during
2009 to raise funds for the
NMF in honor of his young
daughter, Anna, who has
Marfan syndrome. Prior tothe
San Antonio race, he ran the
Boston Marathon in April, the
Jon and Beth Gould
Madison, WI, inMay, and the
Milwaukee Marathon in October. Before this issue went to
print, he had raised more than $9,200 through the Firstgiving
page that heand Beth created. Including off-line donations,
they have raised more than $10,000.
People and Events continued onpage 18
Although people with Marfan syndrome and related disorders
are not able to run competitively, many have family members
who participate in marathons, half-marathons and shorter
races. Do you know someone who loves torun in these events?
Setting upapersonalized Firstgiving page online makes iteasy
to turnthe race intoasuccessful NMFfundraiserinhonor of, or
in memoryof, alovedone. Please contact CathieTsuchiya, NMF
Local Fundraising Coordinator, at ctsuchiya@marfan.org for
more information.
online at
www.marfan.org
Volume 29, No. 1 17

18
National Volunteer Network
Triathlon
Amy Avitabile, of
Bloomingdale, NJ,
participated inthe Jardon
Westchester Triathlon on
September 27. She created a
personal fundraising page
through Firstgiving and
asked friends and colleagues
to donate to support her
efforts in honor of her
brother-in-law Keith and
“all the courageous people
living with Marfan.” She raised $3,175 for the NMF.
Winter 2010
People &
Events continued
Amy Avitabile on the bike portion
of her triathlon
NMF President and CEO Carolyn Levering and Director of
Development Jennifer Grignoli spent aweek on the west coast
in November, meeting with chapters and network groups
throughout California and in Portland, OR, discussing
upcoming plans for fundraising and awareness opportunities.
The Portland meeting also focused on the annual conference,
which will beheld in Portland in 2011.
Carolyn and Jen met with the network groups inLos
Angeles, Sacramento, San Francisco Bay Area and Portland.
In addition, they met with two important partners inthe
Foundation’s Emergency Medicine Campaign, Amy Yasbeck
Ritter, of the John Ritter Foundation for Aortic Health (who
gave the keynote address at the NMF’s 2009 Annual Conference),
and Al Larson, father of Tony Award-winning RENT
playwright Jonathan Larson.
While inCalifornia, Carolyn and Jen also had anopportunity
to meet with leading Marfan syndrome specialists, Dr.
Robert Siegel, Cardiology Director of theCedars-Sinai Marfan
Center, and Dr. David Liang, director of the Stanford
University Center for Marfan Syndrome and Aortic
Disorders.
The stop inPortland included ameeting with NMF
Professional Advisory Board member Lynn Sakai, PhD, who
Team Big Hearted Texans
Friends ofKathy and Mac Magee of San Antonio, TX, ran
in theSan AntonioRock ‘n Roll Marathon andHalf Marathon
on November 15inhonor of Kathy and Aiden Magee.They
participated asateam, Big Hearted Texans; team members
included Tanya Flint, Rachel Gowder, Natasha and Kevin
Mack, Mac Magee and Mary Trombley. Asthis issue went
to press, the team had raised more than $2,500 for the NMF.
Big Hearted Texans
NMF Goes West: Energizing Meetings Held with
NVN Groups on the West Coast
will behosting the 2011 Annual Conference at Shriner’s
Hospital.
“The Marfan syndrome and related disorders community
is thriving onthe west coast. Itwas wonderful to meet the
many people who are volunteering their time and energy to
advance our mission up and down the Pacific coast.They are
true partners tothe NMF who are full of ideas and the commitment
to bring their vision for the community to fruition,”
said Carolyn.
(L-R) Carolyn Levering, Roelina Berst, Jen Grignoli, Amy Yasbeck and Al Larson

Volunteer Profile: Daniel Speck
Daniel Speck is an 11-year-old from Knoxville, MD, who has
been involved with the National Marfan Foundation since
shortly after he was diagnosed with Marfan syndrome. Hewas
honored with aKid with aHeart Award atthe NMF’s 2009
AnnualConference. He is arole model for other children with
Marfan syndrome, as well as for the Marfan community.
Why did youget involved with theNational Marfan Foundation?
My family and Ihad never heard of Marfan syndrome before
Iwas diagnosed. Mydoctor gave us information from the
National Marfan Foundation website. We became members
and started going to meetings with the local network group.
Igot involved because it was agood opportunity to learn
more about the syndrome and see other people, especially
kids, who have the same thing.
Why is it important to you tobeinvolved with the NMF?
It is important tobeinvolved in the NMF so Ican help
others with the syndrome and also help the Foundation that
helped me.Myfamilyand Ilearned so much about Marfan
syndrome just from the NMF’s information, books and website.They
were able toput us in touch with other people
The Perspective from Daniel’s Mom, Amy
Daniel was originally very reluctant totalk about his
diagnosis. He didn’t want ustotell anyone he had the
syndrome or explain why hecouldn’tplay competitive
basketball orwhy he was so tall. He was still coming to
terms with what the diagnosis meant for his life, but
soon after entering the clinical trial, hedecided he
wanted todosomething to raise money for the NMF.
It was after hestarted receiving feedback from people
about his fundraisers that hebecame more comfortable
talking about his diagnosis and realized that if he shared
his experiences with others that hemight save alife. He
now realizes what animpact one person can have on
the lives of so many just by volunteering.
Volunteering has helped him come toterms with
his own diagnosis and has given him away of turning a
negative into apositive. He has matured greatly just by
taking “ownership” of his health through volunteering.
Daniel now recognizes how much work goes into raising
awareness and funds for Marfan research and, inturn,
he has also become extremely grateful for all the support
and opportunities the Foundation has given him and
others with Marfan syndrome.
National Volunteer Network
Daniel Speck and Comet at the
Hounds Helping Hearts fundraiser
who knew how to
answer our questions
and also get us into
the clinical trial.The
NMF gives me
answers and helps me
live with this
condition. Ifeel it is
important togive back
to an organization that
is helping melive
longer.
How did you decide
which activities you
would do?
Iamhomeschooled and live inthe country so Idecided to
do fundraising activities that Icould do from home and still
reach alot of people. For myfirst fundraiser, Iwrote a
homeschool newsletter inFebruary, during Have aHeart
month, and sent it to about 50 family and friends. Idescribed
Marfan syndrome and held acontest to raise funds for the
NMF. Ibought prizes for the top three donors.
For the second fundraiser, Idecided tomake and sell
bracelets. Ihad been repairing and making jewelry for family
andfriendsand decidedtodesign abracelet with redand white
crystals and red crystal hearts torepresent Marfan syndrome.
Idonated the money from the sale tothe NMF.
My most recent fundraiser was held in October. The idea
came from the leader ofthe Tail Waggers 4-H Dog Club,
which Ibelong to. Heread anarticle in the local paper about
me and suggested that we have adog walk toraise money
for the NMF. Ihelped organize the dog walk, gathered silent
auction items, and raised sponsorship money.
What are you most proud of?
Iammost proud that Iam helping make people aware of
Marfan syndrome and making adifference. Right now Iam
in the clinical trial and seeing some ofthe best doctors inthe
world. It makes me feel good that Ican give some money to
the organization that will help these doctors study Marfan
syndrome.
What would you say to other kids about volunteering?
Iwould say asmuch as the NMF gives toyou, you need to
give back and help others.
Volume 29, No. 1 19

20
Connective Issues
Progress and Promise inMarfan
Syndrome Research
continued from page 1
results are positive with clear room for improvement or negative,
there are other questions. Why did this work so well in
mice but not in people? Did wechoose the right dose? Would
adifferent medication inthe same class do better? Would a
combination ofmedications improve the situation? What
other classes of medications should be considered?
From aresearchperspective, it does appear that theoriginal
questionremainsstrong. Indeed,using current dosing regimens,
it now appears that losartan can induce actual regression in
aortic root sizeinour mouse modelofMarfansyndrome. There
is also evidence for increased amounts ofTGF-β in the bloodstream
of both mice and people with Marfan syndrome. In
mice, the amount of TGF-β in the blood showed excellent
correlation with aortic root size and decreased upon treatment
with losartan in adose-dependent manner.This suggests that
asimple blood test might allow ustopredict how someone’s
aorta will behave over time and how much losartan (or some
other medication) is needed to treat aspecific individual.
This general theme—the development of prognostic and
therapeutic biomarkers that guide patient counseling and
care—is extremely important and will beafocus for both the
research community and the National Marfan Foundation.
Additional work has identified other cellular signaling
pathways that are altered in the aortic wall inMarfan syndrome.
Reassuringly, all of the pathways are regulated by
both TGF-β and the angiotensin type 1receptor, and are
normalized by treatment with losartan. However, if losartan
does not show optimal performance in people, or if selected
patient populations cannot take ordonot respond to this
drug, there are now additional treatment strategies that target
some orall of these pathways that work in mice and may
prove effective for people.
Spurred onbythe mouse work and current clinical trial,
buzz and excitement in the scientific community continues
around Marfan syndrome research. This was dramatically
evident at the Aortic Disease Summit in September 2009,
which was supported by the National Registry of Genetically
Triggered Thoracic Aortic Aneurysms and Cardiovascular
Conditions (GenTAC), NHLBI, NIAMS and the NMF.
This gathering ofprominent scientists in multiple
disciplines—such as development, cancer biology, imaging,
genetics and surgery—featured discussions about state-ofthe-art
research in Marfan syndrome and related disorders.
Why cancer biologists? As we had hoped, researchers with
diverse interests, such as cancer, read about Marfan research
and thought, “Well, Idon’t know anything about aortic
aneurysm, but Iknow alot about TGF-β; maybe Ihave
something to offer.” It was especially gratifying tomeet the
Winter 2010
NMF inDC
NMF Board member Gavin Lindberg (left) with the newly appointed Director of the
National Institutes of Health (NIH), Dr. Francis Collins, at the Congressional
Reception held on December 2inWashington, DC, in Dr. Collins’s honor.
many new and young investigators who were inattendance
at this meeting. This is avery important step for the Marfan
community to ensure that there will benogap in the scientific
talent available to continue research in this field. The
new challenge is to ensure awelcoming environment for
these researchers through the development of collaborative
networks and funding opportunities.
The NMF continues to make research apriority by
supporting the most promising research proposals through
the NMF grant program. Since 2001, 90 percent of the
investigators supported by the NMF have gone on to
continue their work bygetting additional funding from the
National Institutes ofHealth and producing peer-reviewed
publications.
Marfan research has come along way and isrecognized
at prestigious research meetings such as those held by the
Institute of Medicine and the various institutes atthe
National Institutes ofHealth. Lessons learned from the study
and treatment ofMarfan syndrome are proving relevant to
many different diseases and disease processes—providing
hope insituations where none was apparent.The Marfan
community—patients and families, clinicians, researchers,
funding agencies, philanthropists, and advocates—should all
derive great pride from the fruit of their endeavors. After a
well-deserved pat on the back, we need to get back towork.
There isalot more to do!

Research Meetings Create Excitement in Scientific Community
continued from page 1
Highlights included:
• Session I: New Insights into the pathogenesis of aortic
aneurysm from disease genesand animal models. This session
provided anoverview ofgenes, genetic pathways and
development involved in Marfan syndrome, Loeys-Dietz
syndrome,Turner Syndrome, Ehlers Danlos syndrome(s)
and Familial Thoracic Aneurysms. Research indicates that
changes in the signaling pathways might be acommon
theme inthese disorders.
• Session II: Advances in imaging and biomarkers ofaortic
disease. Although imaging techniques have improved
greatly toevaluate several aspects ofthe aorta, the technology
is not yet available toevaluate how fragile the
aorta is, which iscritical in those affected with connective
tissue disorders. New research indicates that the development
of ablood test for diagnosis ofadissection within
the first six hours isapossibility. However, more research
is needed to develop tests for diagnosis ofdissection
after the six hour window has passed.
• Session III: Natural history ofaortic disease. Gaps in the
natural history ofaortic disease remain and are largely
disease specific. One ofthe major issues has been the
extent to which medical decisions are made without
evidence. In some disorders, variation in disease severity
between genders may provide clues to therapy.
• Session IV: Controversies and opportunities in the surgical
management of aortic disease. This scientific session included
alively discussion as to the current size measurements
suggested for elective repair of aortic root aneurysms
because some dissections occur at sizes under the current
“disorderspecific” threshold.However,earlierintervention
could dramatically increase the risk for development of
descending aneurysms, bleeding incidents due to anticoagulation,
and earlier re-operations for leaky valves.
• Session V: Novel medical therapeutic strategies in the treatment
of aortic disease. This session provided insight into
state-of-the-art research inbiological therapies currently
being considered. BiologicalTGF-β antagonists have
promise because they appear to target closer to the altered
biology (at least in Marfan syndrome).
The meeting successfully brought together various disciplines
which boosted much needed collaborations and created a
cooperative environment that will help move research forward.
Connective Issues
NMF-Sponsored Therapeutic Strategies Meeting
Following the lively two-day meeting, the NMF hosted a
Therapeutic Strategies meeting atwhich several speakers and
participants from the Aortic Disease Summit provided their
expertise tohelp the Foundation develop aprioritized research
and advocacy agenda. Agroup representing each ofthe areas
covered inthe sessions at the Aortic Disease Summit discussed
the barriers and gaps in the field and how the NMF research
program can beinstrumental in moving research forward.
Several issues emerged as priorities for the field in general.
In each of the sessions, it was noted that infrastructure and
well organized collaboration would benefit the field by providing
amethod to share chemicals, amouse model bank
and amethod to collect clinical data (cardiovascular and
musculoskeletal) from older patients, patients who have had
surgery, and patients with medically treated dissections who
are taking losartan.
Josephine Grima, PhD, NMF Vice President of Research
and Legislative Affairs, said, “All in all, it was anextraordinary
set of meetings in which tosee that asmall group of scientists
are making these kinds ofadvances in science and medicine.
It is atribute to the people who have become devoted to
connective tissue diseases and who have focused the research
to make tremendous advancements inthe field.”
NMF Presents to Social Security
Administration Review Panel
The NMFcontinues to advocatefor increased disability services
for people with Marfan syndrome and is being heard in
Washington. On December14, Josephine Grima, PhD, NMF Vice
PresidentofResearch and LegislativeAffairs,gaveapresentation
on behalf ofthe Foundation and its members at the first meeting
of the Institute of Medicine Review ofthe Cardiovascular
Listing of Impairments for the Social Security Administration
(SSA). Her comments informed committee members about the
various complicationsofMarfan syndrome, including the fragility
and risks that follow aortic surgery. She also provided specific
recommendations about how the cases ofpeople with Marfan
syndrome could be reviewed inamore accurate way.
According to NMF Board member Gavin Lindberg, chair of the
Foundation’s Legislative Committee, “Jo’s comments were wellreceived
bythe committee members and sparked agreat deal
of interest in Marfan syndrome. As afollow-up, the NMF will be
meeting with the SSA’s Medical Disabilities Listing Office to
furtherdiscussthe recommendations thatJopresented.Weare
extremely encouraged by this positive step and hope itleads to
aprocess that will be of benefit to the Marfan community.”
Volume 29, No. 1 21

22
Connective Issues
2009 Research Program
continued from page4
McKusick Fellowships
Jefferson Doyle, MBBCHIR, MHS, MA
Johns Hopkins Hospital, Baltimore, MD
$150,000 two-year award
The Benefits of Antagonizing ERK Signaling to Modify the
Pathogenesis of Marfan Syndrome
The researchers have recently shown that there isincreased
activation of aparticular signaling molecule called ERK in
the aorta of mice with Marfan syndrome. This signaling
molecule is known to be increased by TGF-β in other tissues
such as the liver, lungs and kidney. Furthermore, ERK is
known to cause cells to proliferate and increase in number in
many tissues in the body, including the aorta. Hence in
Marfan syndrome, where the aorta becomes dilated, it makes
sense that ERK may be the signaling pathway that is overactivated.
The scientists hope that ifthey can conclusively
prove that over-activation ofERK causes excess growth of the
aorta inMarfan syndrome, then they can try to find FDAapproved
drugs that reduce ERK activity. The primary aim
of this work istoenhance understanding of the molecular
mechanisms involved in Marfan syndrome and attempt to
alter them with aclinically available FDA-approved drug,
in the same way that has been done for losartan.
Christine Papke, PhD
The University of Texas Medical
School, Houston, TX
$100,000 two-year award
Molecular Pathogenesis in Mouse
Models ofThoracic Aortic Aneurysm
and Dissections
This study will produce amouse
model with amutation inthe actin
Christine Papke, PhD
gene believed to result in aform of
familial aortic aneurysm (FAA), which ischaracterized by
enlargement of the aorta without the other characteristics of
Marfan syndrome. Some drug treatments are currently being
developed for aneurysms in individualswith Marfan syndrome;
however, the extent of similarity between aneurysms inFAA
and Marfan patients isnot known.The goal ofthis study is
to compare the molecular pathology of FAA mice toMarfan
mice and determine ifthe cell signaling pathways involved are
thesame or different. Once the mechanismofhow aneurysms
form inthese FAA mice is understood, drugs can be
developed to block the processes that cause disease.
Winter 2010
Participate in Research
continued from page 6
surgical centers specializing inaortic root surgery inthe U.S.
and worldwide are collaborating toconduct this three-year
study. Individuals who plan for aortic valve and root surgery
should contact the study personnel about participation: Irina
Volguina, PhD, Project Manager, Baylor College of Medicine,
832-355-9943 or volguina@bcm.edu. For more information,
visit http://www.bcm.edu/study/marfan/
Aortic Surgery
Contact Irina Volguina, PhD, atBaylor College of
Medicine: 832-355-9943 or volguina@bcm.edu.
Improving Aortic Health in Adults with Marfan Syndrome:
Losartan vs. Atenolol
The purpose of this trial is to compare the effects ofthe
medications losartan and atenolol on the stiffness ofthe heart
and aorta of adults with Marfan syndrome.The trial is for
adults who have never had anaortic dissection oraortic/
cardiac surgery. The aortic wall isoften stiff inadults with
Marfan syndrome, even ifaortic size is relatively normal. In
this study, researchers are investigating losartan’s ability to
correct this stiffness and improve aortic health. The trial
involves anon-invasive ultrasound of the heart and the aorta
before and after six months of treatment with losartan or
atenolol. The trial is being run out of Brigham and Women’s
Hospital and Children’sHospital in Boston.
Losartan in Adults
For more information, contact Dr. Ami B. Bhatt, at
617-732-6320.
Natural History ofConnective Tissue Disorders Study
Nazli McDonnell, MD, PhD, and colleagues at the National
Institute of Aging atNIH are currently exploring the natural
historyofMarfansyndrome,Ehlers-Danlos, Stickler Syndrome,
Fibromuscular Dysplasia and other connective tissue disorders.
Details about the study, as well as sample consent forms and
questionnaires to be completed for eligibility, can be found
online at: http://www.grc.nia.nih.gov/studies/ctd.htm.
Natural History
Visit http://www.grc.nia.nih.gov/studies/ctd.htm for
details about this study.

We Remember and Honor ...
Connective Issues
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 deeply appreciated and support our mission to save lives and enhance
the lives of those affected by Marfan syndrome and related connective tissue disorders.
In Memory of:
Adrian Adame
Carol Adame
Elias Adame
Kaitlyn Anthony
Pamela Bailey
Elissa Faith Bell
Max Belopolsky
Scott Boegle
Madison Boudreaux
William Morton Bowlus
Barbara Bradley
Estelle Broady
James Warren Brown, MD
Connie Bustillos
Paul Caputi
Alexander Evans Cooper
Dr. Jeane Duncan Crowder
Edward James Davis
Bill Feinstein
Donald Geist
Christopher and Greg Gilmore
Jeff Goldman
John Heinemann
Kyle Hempstead
Mitchell G. Jurist
Helen Love
Gary P.Luedde
Lynn Malizia
Blossom Mallin
Anthony Marotte
Eileen A. McCarthy
Patricia Moran
Larry Murphy
Michael Nygaard
James W. O’Keefe
Christopher Paulsen
Jonathan Pawell
Betty Pleau
Kevin Rado
Lynn Ragon
Savannah Rhodes
David A.Ricca, MD
Harold Riddell
Brock Robertson
Joseph T. Scialabba, Jr.
Diane R. Smith
Thomas M. Turner
Stephen Yakimovich
In Honor of:
Louise Chudnofsky –Get Well
Alice Dermer’s 80th Birthday
Beverly Feinstein
The Fink Family
Joseph Gagliano, Jr.’s 50th
Birthday
Brian Gilmore
The forthcoming child of
Matt &Sharna Green
Barbara Lerman
for your special birthday
James C. Lewis
Janna Carol Lewis
Shan-Lee Liu, Po-Shang Chen
and Steven &Jessica Chen
Cathy Mudre
Michael Murray
Annie Reinking &Peter Talbert in
celebration of your anniversary
Michael Scott Roberson
Deborah Schank
Donald Phillip Smith
Christopher Stone
Results ofTeen Photo Contest at2009 Annual Conference
Rick Guidotti, acclaimed fashion photographer and founder
of Positive Exposure, spearheaded the Image-ination Photo
Contest for teens at the NMF Annual Conference in August.
The contest started with Rick leading aworkshop about self
image, human diversity and photography. He then challenged
the 80teens to take photos of each other throughout the
conference to capture the beauty ofMarfan syndrome and
related disorders. The photos were then submitted for the
Image-ination Photo Contest.The goals of the Image-ination
Photo Contest were to:
• Challenge the stigma associated with difference by
celebrating the beauty and richness of human diversity,
particularly for teens living with Marfan syndrome and
related disorders
• Promote positive self image and body image
• Raise awareness of Marfan syndrome and related
disorders through photography
The winning photographer, as
voted onbythe Marfan syndrome
and related disorders community,
was Ryan Orkin, 16, who traveled
to the conference with his family
from South Africa. Congratulations
also to Dominga Noe, 16, and
Kami Delgardo, 17, both of
California, who finished in second
and third place, respectively, inthe
Photo contest winner Ryan Orkin
voting.
Ryan’s winning photo appears on the back cover ofthis
newsletter. Pictured in it, left to right, are Katie Delgardo,
Dana Wennerberg, Gina Hamer and Brandon Hartmann.
Positive Exposure is anon-profit organization that challenges
the stigma associated with difference bycelebrating human
diversity. For more information, visit www.positiveexposure.org.
Volume 29, No. 1 23

22 Manhasset Avenue
Port Washington, NY 11050
“Just got the most recent
Connective Issues magazine.
Ihave kept every single copy
we have ever received as a
resource library for us. It is
an incredible newsletter and
worth the membership fee
alone just toreceive ahard
copy!!!”
–A.S., Maryland
Non Profit Org.
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RIPON, WI
PERMIT No.100
Winning Entry inTeen Photo Contest byRyan Orkin,
“The Sky Is The Limit”
Read about it on page 23.