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Genetic Basis of Thoracic Aortic Aneurysms 103 FBN1 on chromosome 15 (15q15-32) and FBN2 on chromosome 5 (5q23-31) (8). These genes encode large, cysteine-rich glycoproteins (approximately 350 kDa) with a similar repetitive domain structure (9–11). Mutations in FBN1 are the cause of MFS. Numerous FBN1 mutations have been identified in MFS patients and over 600 mutations have been entered in the international Marfan database (http://www.umd.be: 2030/). The majority of them are missense mutations, many of which involve the most repeated domain in the molecule, the calcium binding epidermal growth factor life (cbEGF) domains (Fig. 1) (12). FBN1 mutations have been identified in individuals and families with isolated features of the MFS who do not fulfill the diagnostic criteria of the MFS, including isolated skeletal features and lens dislocation (13,14). TAAD in the absence of other manifestations to fulfill the criteria can occur in individuals due to FBN1 mutations. Two mutations, D1155N in FBN1 exon 28 and P1837S in FBN1 exon 44, were identified in two unrelated patients with TAAD and without typical MFS skeletal and ocular complication (15). The mutation G1127S in FBN1 exon 27 was found in 9 of the 10 members of a family in whom the Figure 1 Domain organization of fibrillin-1 and fibrillin-2. Boxes designate the structural domains of the fibrillin proteins and are indicated as follows: calcium-binding epidermal growth factor-like domains (cbEGF, dotted); EGF-like domains that do not bind calcium (horizontal lines); novel domain containing eight cysteines that is also found in transforming growth factor beta-binding protein (TGF-bp-like, vertical lines); hybrid domains that are combinations of the cbEGF and TGF-bp-like domain (checkered ); unique amino terminus (white); glycine-rich and proline-rich motif (diagonal lines); and carboxyl terminus (black). The domain indicated by diagonal lines is proline-rich in fibrillin-1 and glycine-rich in fibrillin-2. Each asterisk appearing above the schematic indicates the domain location of a characterized mutation in fibrillin-1 and fibrillin-2. Source: From Ref. 57.
104 Milewicz et al. ascending aortic disease had been identified. None of the individuals had typical MFS features (16,17). These studies indicate that although FBN1 mutations can cause TAAD in individuals who do not have MFS, this is a rare cause of this disorder. A second locus for MFS was identified at 3p24.2-p25 (MFS2) based on linkage analysis of a large French family in whom the diagnosis of MFS has been controversial (18,19). Although affected members of this family did not meet the diagnostic criteria for classical MFS, the condition was characterized by skeletal and cardiovascular complications similar to MFS. Recently, mutations in the gene for transforming growth factor β receptor Type II (TGFBR2) have been identified as the cause of disease at the MFS2 locus (20). The TGFBR2 mutations in patients with MFS were three missense mutations (L308P, S449F, and R537C) and a splicing error of exon 6. These TGFBR2 mutations in MFS patients all involved the serine-threonine kinase domain, and have been determined to diminish receptor signaling induced by TGF-β when co-expressed with a TGF-β responsive promoter in an in vitro assay system. Heterozygous mutations in both TGFBR2 and TGFBR1 were reported in ten families with a newly described syndrome associated with disruption in cardiovascular, craniofacial, neurocognitive, and skeletal development (21). The syndrome was originally described as Furlong syndrome but has been more recently termed Loey-Dietz syndrome (LDS) (22–24). Clinical features of the syndrome include vascular disease involving initially dilatation, and then dissections, of the ascending aorta but also aneurysms and dissections of peripheral arteries associated with generalized arterial tortuousity. The craniofacial abnormalities include widely spaced eyes (hypertelorism), bifid uvula and/or cleft palate. The skeletal abnormalities are similar to those observed with MFS and include arachnodactyly, pectus deformities, camptodactyly (fixed flexing of the 5th digit), scoliosis, and joint laxity (Fig. 2). The described mutations largely occurred in the intracellular kinase domains of these receptors (Fig. 3). Therefore, it was surprising when fibroblast cells explanted from individuals heterozygous for these mutations did not demonstrate altered TGF-β signaling. Tissues from affected individuals showed increased expression of both collagen and connective tissue growth factor, as well as nuclear enrichment of phosphorylated Smad2, suggesting increased TGF-β signaling in these tissues. Mutations in the gene for fibrillin-2, FBN2, cause congenital contractural arachnodactyly or Beals syndrome (CCA), a syndrome that is closely related to MFS (25). CCA patients have the skeletal features of MFS, along with congenital contractures and a crumpled appearance to the helix of the ear, but lack the ocular complications. Although CCA patients were initially thought not to have aortic root dilatation, recently it has been shown that a subset of CCA patients with characterized FBN2 mutations have aortic dilation that can progress over time (26–28). It has not been determined if the aortic root dilatation observed in CCA patients will progress to aortic dissection or rupture, as it does in MFS. The FBN2 mutations leading to CCA all cluster in a limited region of the fibrillin-2 protein (Fig. 1).
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Acute Aortic Disease
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15. Heart Failure: Basic Science an
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52. Clinical, Interventional, and I
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Informa Healthcare USA, Inc. 270 Ma
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Introduction Informa Healthcare has
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Foreword There is no disease more c
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Preface Over 100 years ago, the gre
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Preface xi Some distinguishing feat
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xiv Acknowledgments Above all, than
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xvi Contents 6. Genetic Basis of Th
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Contributors Nili Avidan Division o
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Contributors xxi Arun Raghupathy Di
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2 Nienaber and Ince Table 1 Risk Co
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4 Nienaber and Ince In addition to
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6 Nienaber and Ince CLASSIFICATION
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8 Nienaber and Ince Lansman’s Cla
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10 Nienaber and Ince Figure 4 Curve
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12 Nienaber and Ince Figure 6 Evolu
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14 Nienaber and Ince dissection, su
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16 Nienaber and Ince (A) (B) Probab
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18 Nienaber and Ince Table 5 Risk P
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20 Nienaber and Ince of the predila
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22 Nienaber and Ince 34. Pieters FA
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24 Nienaber and Ince 75. Mehta RH,
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26 Nienaber and Ince hematoma (IMH)
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28 Nienaber and Ince One good featu
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30 Isselbacher SYMPTOMS Pain Experi
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32 Isselbacher and wane in severity
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34 Isselbacher The mechanisms are u
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36 Isselbacher deficits are most co
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38 Isselbacher 3. Nallamothu BK, Me
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40 Danias spinal arteries) and the
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42 Danias Figure 2 Anteroposterior
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44 Danias However, due to the dista
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46 Danias TEE is highly sensitive f
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48 Danias faster, with higher resol
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50 Danias Figure 6 Transverse slice
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Page 83 and 84: 54 Danias Figure 9 Transverse black
Page 85 and 86: 56 Danias Figure 12 Single phase-co
Page 87 and 88: 58 Danias restricted to the absolut
Page 89 and 90: 60 Danias In conclusion, in the rig
Page 91 and 92: 62 Danias DISCUSSION AND COMMENTARY
Page 93 and 94: 64 Danias tomography, among others.
Page 95 and 96: 66 Danias cardiac silhouette. The a
Page 97 and 98: 68 Raghupathy and Eagle the inciden
Page 99 and 100: 70 Raghupathy and Eagle Figure 1 Sp
Page 101 and 102: 72 Raghupathy and Eagle SIGNS A tho
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Page 113 and 114: 84 Raghupathy and Eagle EDITOR’S
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Page 121 and 122: 92 Elefteriades and Rizzo Table 1 S
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Page 125 and 126: 96 Elefteriades and Rizzo Table 3 C
Page 127 and 128: 98 Elefteriades and Rizzo DISCUSSIO
Page 129 and 130: 100 Milewicz et al. KNOWN GENETIC S
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Page 151 and 152: 122 Milewicz et al. DISCUSSION AND
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Page 162 and 163: Matrix Metalloproteinases in Aortic
Page 176 and 177: INTRODUCTION 9 Inflammation and Rem
Page 178 and 179: Inflammation and Remodeling in the
Page 180 and 181: Inflammation and Remodeling in the
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Inflammation and Remodeling in the
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10 Weight Lifting and Aortic Dissec
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Weight Lifting and Aortic Dissectio
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11 Timing of Acute Aortic Events: H
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Timing of Acute Aortic Events 171 F
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SECTION IV: TREATMENT OF ACUTE AORT
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Natural History of Thoracic Aortic
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206 Shahriari and Farkas properties
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208 Shahriari and Farkas Figure 2 E
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210 Shahriari and Farkas Less than
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212 Shahriari and Farkas helpful if
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214 Shahriari and Farkas Figure 6 A
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216 Shahriari and Farkas (68). Many
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218 Shahriari and Farkas Figure 9 H
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220 Shahriari and Farkas fistula is
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222 Shahriari and Farkas MEGS is de
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224 Shahriari and Farkas 26. Svenss
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226 Shahriari and Farkas 63. Fehren
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14 Acute Aortic Dissection: Anti-im
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Acute Aortic Dissection 231 lamella
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Acute Aortic Dissection 233 P t is
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Acute Aortic Dissection 235 From th
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Acute Aortic Dissection 237 Figure
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Acute Aortic Dissection 239 concern
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Acute Aortic Dissection 241 Table 2
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Acute Aortic Dissection 243 dissect
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Acute Aortic Dissection 245 22. Bax
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Acute Aortic Dissection 247 62. Lin
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Acute Aortic Dissection 249 DISSCUS
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252 Elefteriades and Griepp ACUTE A
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254 Elefteriades and Griepp Figure
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256 Elefteriades and Griepp sometim
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262 Elefteriades and Griepp to a se
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264 Elefteriades and Griepp Natural
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266 Elefteriades and Griepp CONCLUS
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268 Elefteriades and Griepp DISCUSS
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270 Brinster et al. thoracic aneury
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272 Brinster et al. Figure 1 Retrop
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274 Brinster et al. artery. Z3 land
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276 Brinster et al. or ischemia of
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278 Brinster et al. registry arm (2
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280 Brinster et al. Table 3 Early P
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282 Brinster et al. According to th
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284 Brinster et al. ranged from 1 t
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Table 4 Meta-Analysis of Tevar for
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288 Brinster et al. conventional op
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290 Brinster et al. using no (or lo
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292 Brinster et al. Table 5 Risk Fa
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294 Brinster et al. wire manipulati
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296 Brinster et al. Thoracoabdomina
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298 Brinster et al. 25. Hagan PG, N
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300 Brinster et al. 60. Elefteriade
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302 Brinster et al. 98. Liu ZG, Sun
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304 Brinster et al. 131. Szeto WY,
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306 Brinster et al. 100% 90% 80% 70
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308 Brinster et al. ● “Long-ter
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310 Hackmann et al. treatment. New
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312 Hackmann et al. tissue than in
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314 Hackmann et al. Table 1 Pharmac
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316 Hackmann et al. Some anti-hyper
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318 Hackmann et al. inhibits NF-κB
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320 Hackmann et al. Patients with C
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322 Hackmann et al. ACKNOWLEDGMENTS
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324 Hackmann et al. 34. Thompson RW
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326 Hackmann et al. 70. LeMaire SA,
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328 Hackmann et al. 105. Marra DE,
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330 Hackmann et al. DISCUSSION AND
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332 Elefteriades Diseases of the th
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334 Elefteriades Table 1 Individual
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336 Elefteriades Table 1 Individual
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338 Elefteriades Failure to Diagnos
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340 Elefteriades of physicians on t
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342 Elefteriades Figure 3 Computed
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344 Elefteriades reviewed over the
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346 Elefteriades DISCUSSION AND COM
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348 Elefteriades Figure 1 (See colo
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350 Elefteriades that are the subje
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SECTION VII: SYNTHESIS 20 The Key L
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The Key Lessons of This Book—In a
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362 Index Aging, aortic aneurysms a
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364 Index Cytokines, aortic aneurys
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366 Index Pathoanatomy classificati
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368 Index [Thoracic aortic aneurysm
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Figure 1.C Note from schematic depi
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Figure 8.1 Dramatic clinical exampl
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Figure 11.2 Proposed schema for the
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Figure 19.1 Future prospects in car
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