Skip to main content
SpringerLink
Log in
Book cover

Arterial Disorders pp 267–284Cite as

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections

  • Chapter
  • First Online:

  • 1369 Accesses

Abstract

In this chapter, we wish to provide an overview and address a number of recent developments regarding aetiology, clinical aspects and treatment of heritable thoracic aortic disease. We want to focus on monogenetic disorders related to aortic aneurysms which are admittedly rare but provide a unique basis for the study of underlying pathogenetic pathways in the complex disease process of aneurysm formation. Understanding these pathomechanisms may lead to the identification of new treatment targets and improved management.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   149.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Judge DP, Dietz HC (2005) Marfan’s syndrome. Lancet 366:1965–1976

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  2. Loeys BL, Dietz HC, Braverman AC et al (2010) The revised Ghent nosology for the Marfan syndrome. J Med Genet 47:476–485

    Article  CAS  PubMed  Google Scholar 

  3. Faivre L, Masurel-Paulet A, Collod-Beroud G et al (2009) Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 123:391–398

    Article  PubMed  Google Scholar 

  4. Schoenhoff FS, Jungi S, Czerny M et al (2013) Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation 127:1569–1575

    Article  PubMed  Google Scholar 

  5. Apter JT (1967) Correlation of visco-elastic properties with microscopic structure of large arteries. IV. Thermal responses of collagen, elastin, smooth muscle, and intact arteries. Circ Res 21:901–918

    Article  CAS  PubMed  Google Scholar 

  6. Reed CM, Fox ME, Alpert BS (1993) Aortic biomechanical properties in pediatric patients with the Marfan syndrome, and the effects of atenolol. Am J Cardiol 71:606–608

    Article  CAS  PubMed  Google Scholar 

  7. Roman MJ, Rosen SE, Kramer-Fox R, Devereux RB (1993) Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol 22:1470–1476

    Article  CAS  PubMed  Google Scholar 

  8. Keane MG, Pyeritz RE (2008) Medical management of Marfan syndrome. Circulation 117:2802–2813

    Article  PubMed  Google Scholar 

  9. Lundby R, Rand-Hendriksen S, Hald JK et al (2012) The pulmonary artery in patients with Marfan syndrome: a cross-sectional study. Genet Med 14:922–927

    Article  PubMed  Google Scholar 

  10. De Backer J, Loeys B, Devos D et al (2006) A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med 8:401–408

    Article  PubMed  Google Scholar 

  11. Finkbohner R, Johnston D, Crawford ES et al (1995) Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation 91:728–733

    Article  CAS  PubMed  Google Scholar 

  12. Engelfriet PM (2006) Beyond the root: dilatation of the distal aorta in Marfan’s syndrome. Heart 92:1238–1243

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  13. van Ooijen B (1988) Marfan’s syndrome and isolated aneurysm of the abdominal aorta. Heart 59:81–84

    Article  Google Scholar 

  14. Pruzinsky MS, Katz NM, Green CE, Satler LF (1988) Isolated descending thoracic aortic aneurysm in Marfan’s syndrome. Am J Cardiol 61:1159–1160

    Article  CAS  PubMed  Google Scholar 

  15. Mimoun L (2011) Dissection in Marfan syndrome: the importance of the descending aorta. Eur Heart J 32:443–449

    Article  PubMed  Google Scholar 

  16. Groenink M, de Roos A, Mulder BJ et al (2001) Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping. Radiology 219:535–540

    Article  CAS  PubMed  Google Scholar 

  17. Teixido-Tura G, Redheuil A, Rodríguez-Palomares J et al (2014) Aortic biomechanics by magnetic resonance: early markers of aortic disease in Marfan syndrome regardless of aortic dilatation? Int J Cardiol 171:56–61

    Article  PubMed  Google Scholar 

  18. Nollen GJ, Meijboom LJ, Groenink M et al (2003) Comparison of aortic elasticity in patients with the Marfan syndrome with and without aortic root replacement. Am J Cardiol 91:637–640

    Article  PubMed  Google Scholar 

  19. Nollen GJ, Groenink M, Tijssen JGP et al (2004) Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome. Eur Heart J 25:1146–1152

    Article  PubMed  Google Scholar 

  20. Rybczynski M, Mir TS, Sheikhzadeh S et al (2010) Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 106:1048–1053

    Article  PubMed  Google Scholar 

  21. Selamet Tierney ES, Levine JC, Chen S et al (2013) Echocardiographic methods, quality review, and measurement accuracy in a randomized multicenter clinical trial of Marfan syndrome. J Am Soc Echocardiogr 26:657–666

    Article  PubMed Central  PubMed  Google Scholar 

  22. Rybczynski M, Treede H, Sheikhzadeh S et al (2011) Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 107:268–274

    Article  PubMed  Google Scholar 

  23. Pyeritz RE, Wappel MA (1983) Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med 74:797–807

    Article  CAS  PubMed  Google Scholar 

  24. Das BB, Taylor AL, Yetman AT (2006) Left ventricular diastolic dysfunction in children and young adults with Marfan syndrome. Pediatr Cardiol 27:256–258. doi:10.1007/s00246-005-1139-5

    Article  CAS  PubMed  Google Scholar 

  25. Savolainen A, Nisula L, Keto P et al (1994) Left ventricular function in children with the Marfan syndrome. Eur Heart J 15:625–630

    CAS  PubMed  Google Scholar 

  26. Kiotsekoglou A, Moggridge JC, Bijnens BH et al (2009) Biventricular and atrial diastolic function assessment using conventional echocardiography and tissue-Doppler imaging in adults with Marfan syndrome. Eur J Echocardiogr 10:947–955

    Article  PubMed  Google Scholar 

  27. Alpendurada F, Wong J, Kiotsekoglou A et al (2010) Evidence for Marfan cardiomyopathy. Eur J Heart Fail 12:1085–1091

    Article  PubMed  Google Scholar 

  28. de Backer JF, Devos D, Segers P et al (2006) Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol 112:353–358

    Article  PubMed  Google Scholar 

  29. Rybczynski M, Koschyk DH, Aydin MA et al (2007) Tissue Doppler imaging identifies myocardial dysfunction in adults with Marfan syndrome. Clin Cardiol 30:19–24

    Article  PubMed  Google Scholar 

  30. Chatrath R (2003) Left ventricular function in the Marfan syndrome without significant valvular regurgitation. Am J Cardiol 91:914–916

    Article  PubMed  Google Scholar 

  31. Aalberts JJJ, van Tintelen JP, Meijboom LJ et al (2014) Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. Gene 534:40–43

    Article  CAS  PubMed  Google Scholar 

  32. Yetman AT, Bornemeier RA, McCrindle BW (2003) Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol 41:329–332

    Article  PubMed  Google Scholar 

  33. Hoffmann BA, Rybczynski M, Rostock T et al (2013) Prospective risk stratification of sudden cardiac death in Marfan’s syndrome. Int J Cardiol 167:2539–2545

    Article  PubMed  Google Scholar 

  34. Chen S, Fagan LF, Nouri S, Donahoe JL (1985) Ventricular dysrhythmias in children with Marfan’s syndrome. Am J Dis Child 139:273–276

    CAS  PubMed  Google Scholar 

  35. Sakai LY, Keene DR, Engvall E (1986) Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol 103:2499–2509

    Article  CAS  PubMed  Google Scholar 

  36. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE (1990) Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med 323:152–159

    Article  CAS  PubMed  Google Scholar 

  37. Dietz HC, Cutting GR, Pyeritz RE et al (1991) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352:337–339

    Article  CAS  PubMed  Google Scholar 

  38. Lee B, Godfrey M, Vitale E et al (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352:330–334

    Article  CAS  PubMed  Google Scholar 

  39. Isogai Z, Ono RN, Ushiro S et al (2003) Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. J Biol Chem 278:2750–2757

    Article  CAS  PubMed  Google Scholar 

  40. Dallas SL, Miyazono K, Skerry TM et al (1995) Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein. J Cell Biol 131:539–549

    Article  CAS  PubMed  Google Scholar 

  41. Dallas SL, Keene DR, Bruder SP et al (2000) Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo. J Bone Miner Res 15:68–81

    Article  CAS  PubMed  Google Scholar 

  42. Saharinen J, Hyytiäinen M, Taipale J, Keski-Oja J (1999) Latent transforming growth factor-beta binding proteins (LTBPs)–structural extracellular matrix proteins for targeting TGF-beta action. Cytokine Growth Factor Rev 10:99–117

    Article  CAS  PubMed  Google Scholar 

  43. Charbonneau NL, Carlson EJ, Tufa S et al (2010) In vivo studies of mutant fibrillin-1 microfibrils. J Biol Chem 285:24943–24955

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  44. Dietz HC (2010) TGF-beta in the pathogenesis and prevention of disease: a matter of aneurysmic proportions. J Clin Investig 120:403–406

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  45. Horiguchi M, Ota M, Rifkin DB (2012) Matrix control of transforming growth factor-β function. J Biochem 152:321–329

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  46. Silverman DI, Burton KJ, Gray J et al (1995) Life expectancy in the Marfan syndrome. Am J Clin Pathol 75:157–160

    CAS  Google Scholar 

  47. Evangelista A, Flachskampf FA, Erbel R et al (2010) Echocardiography in aortic diseases: EAE recommendations for clinical practice. Eur J Echocardiogr 11:645–658

    Article  PubMed  Google Scholar 

  48. Marshall LM, Carlson EJ, O’Malley J et al (2013) Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. Circ Res 113:1159–1168

    Article  CAS  PubMed  Google Scholar 

  49. Svensson LG, Blackstone EH, Alsalihi M et al (2013) Midterm results of David reimplantation in patients with connective tissue disorder. Ann Thorac Surg 95:555–562

    Article  PubMed  Google Scholar 

  50. Writing Group Members, Hiratzka LF, Bakris GL et al (2010) 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 121:e266–e369

    Article  Google Scholar 

  51. Baumgartner H, Bonhoeffer P, De Groot NMS et al (2010) ESC guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 31:2915–2957

    Article  PubMed  Google Scholar 

  52. Halpern BL, Char F, Murdoch JL et al (1971) A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. Johns Hopkins Med J 129:123–129

    CAS  PubMed  Google Scholar 

  53. Ose L, McKusick VA (1977) Prophylactic use of propranolol in the Marfan syndrome to prevent aortic dissection. Birth Defects Orig Artic Ser 13:163–169

    CAS  PubMed  Google Scholar 

  54. Simpson CF, Boucek RJ, Noble NL (1976) Influence of d-, l-, and dl-propranolol, and practolol on beta-amino-propionitrile-induced aortic ruptures of turkeys. Toxicol Appl Pharmacol 38:169–175

    Article  CAS  PubMed  Google Scholar 

  55. Salim MA, Alpert BS, Ward JC, Pyeritz RE (1994) Effect of beta-adrenergic blockade on aortic root rate of dilation in the Marfan syndrome. Am J Coll Cardiol 74:629–633

    Article  CAS  Google Scholar 

  56. Tahernia AC (1993) Cardiovascular anomalies in Marfan’s syndrome: the role of echocardiography and beta-blockers. South Med J 86:305–310

    Article  CAS  PubMed  Google Scholar 

  57. Shores J, Berger KR, Murphy EA, Pyeritz RE (1994) Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med 330:1335–1341

    Article  CAS  PubMed  Google Scholar 

  58. Groenink M, de Roos A, Mulder BJ et al (1998) Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am J Cardiol 82:203–208

    Article  CAS  PubMed  Google Scholar 

  59. Rossi-Foulkes R, Roman MJ, Rosen SE et al (1999) Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol 83:1364–1368

    Article  CAS  PubMed  Google Scholar 

  60. Rios AS, Silber EN, Bavishi N et al (1999) Effect of long-term beta-blockade on aortic root compliance in patients with Marfan syndrome. Am Heart J 137:1057–1061

    Article  CAS  PubMed  Google Scholar 

  61. Yetman AT, Bornemeier RA, McCrindle BW (2005) Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol 95:1125–1127

    Article  CAS  PubMed  Google Scholar 

  62. Ladouceur M, Fermanian C, Lupoglazoff J-M et al (2007) Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Am J Cardiol 99:406–409

    Article  CAS  PubMed  Google Scholar 

  63. Selamet Tierney ES, Feingold B, Printz BF et al (2007) Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr 150:77–82

    Article  CAS  PubMed  Google Scholar 

  64. Ahimastos AA, Aggarwal A, D’Orsa KM et al (2007) Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA 298:1539–1547

    Article  CAS  PubMed  Google Scholar 

  65. Brooke BS, Habashi JP, Judge DP et al (2008) Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med 358:2787–2795. doi:10.1056/NEJMoa0706585

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  66. Williams A, Kenny D, Wilson D et al (2012) Effects of atenolol, perindopril and verapamil on haemodynamic and vascular function in Marfan syndrome – a randomised, double-blind, crossover trial. Eur J Clin Invest 42:891–899

    Article  CAS  PubMed  Google Scholar 

  67. Chiu HH, Wu MH, Wang JK et al (2013) Losartan added to beta-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc 88:271–276

    Article  CAS  PubMed  Google Scholar 

  68. Pees C, Laccone F, Hagl M et al (2013) Usefulness of Losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. Am J Cardiol 112:1477–1483

    Article  CAS  PubMed  Google Scholar 

  69. Mueller GC, Stierle L, Stark V et al (2014) Retrospective analysis of the effect of angiotensin II receptor blocker versus β-blocker on aortic root growth in paediatric patients with Marfan syndrome. Heart 100:214–218

    Article  PubMed  Google Scholar 

  70. Groenink M, den Hartog AW, Franken R et al (2013) Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J 34:3491–3500

    Article  CAS  PubMed  Google Scholar 

  71. Lacro RV, Dietz HC, Wruck LM et al (2007) Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J 154:624–631

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  72. Habashi JP, Judge DP, Holm TM et al (2006) Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science 312:117–121

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  73. Lacro RV, Dietz HC, Sleeper LA et al (2014) Atenolol versus Losartan in children and young adults with Marfan’s Syndrome. N Engl J Med 371:2061–2071

    Article  CAS  PubMed  Google Scholar 

  74. Pyeritz RE (2014) Heritable thoracic aortic disorders. Curr Opin Cardiol 29:97–102

    Article  PubMed  Google Scholar 

  75. Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342:673–680

    Article  CAS  PubMed  Google Scholar 

  76. Loeys BL, Chen J, Neptune ER et al (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275–281

    Article  CAS  PubMed  Google Scholar 

  77. Loeys BL, Schwarze U, Holm T et al (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355:788–798

    Article  CAS  PubMed  Google Scholar 

  78. van de Laar IMBH, Oldenburg RA, Pals G et al (2011) Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 43:121–126

    Article  PubMed  Google Scholar 

  79. van der Linde D, van de Laar IMBH, Bertoli-Avella AM et al (2012) Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants. J Am Coll Cardiol 60:397–403

    Article  PubMed  Google Scholar 

  80. Lindsay ME, Schepers D, Bolar NA et al (2012) Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 44:922–927

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  81. Boileau C, Guo DC, Hanna N et al (2012) TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 44:916–921

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  82. Carmignac V, Thevenon J, Adès L et al (2012) In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet 91:950–957

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  83. Doyle AJ, Doyle JJ, Bessling SL et al (2012) Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet 44:1249–1254

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  84. Wang L, Guo D-C, Cao J et al (2010) Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 87:701–707

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  85. Guo D-C, Pannu H, Tran-Fadulu V et al (2007) Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39:1488–1493

    Article  CAS  PubMed  Google Scholar 

  86. Akutsu K, Morisaki H, Okajima T et al (2010) Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circ J 74:990–997

    Article  PubMed  Google Scholar 

  87. Guo D-C, Regalado E, Casteel DE et al (2013) Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet 93:398–404

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  88. Regalado ES, Guo D-C, Villamizar C et al (2011) Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 109:680–686

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  89. Zhu L, Vranckx R, van Kien PK et al (2006) Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 38:343–349

    Article  CAS  PubMed  Google Scholar 

  90. Attias D, Stheneur C, Roy C et al (2009) Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation 120:2541–2549

    Article  CAS  PubMed  Google Scholar 

  91. Williams JA, Loeys BL, Nwakanma LU et al (2007) Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 83:S757–S763

    Article  PubMed  Google Scholar 

  92. van der Linde D, Verhagen HJM, Moelker A et al (2013) Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms. J Vasc Surg 57:96–102

    Article  PubMed Central  PubMed  Google Scholar 

  93. Martens T, Van Herzeele I, De Ryck F et al (2013) Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. Ann Thorac Surg 95:332–335

    Article  PubMed  Google Scholar 

  94. Renard M, Callewaert B, Malfait F et al (2012) Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. Int J Cardiol 165:584–587

    Article  PubMed  Google Scholar 

  95. Ong K-T, Perdu J, De Backer J et al (2010) Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. Lancet 376:1476–1484

    Article  CAS  PubMed  Google Scholar 

  96. Oderich GS, Panneton JM, Bower TC et al (2005) The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 42:98–106

    Article  PubMed  Google Scholar 

  97. Bergqvist D, Björck M, Wanhainen A (2013) Treatment of vascular ehlers-danlos syndrome: a systematic review. Ann Surg 258:257–261

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Cardiology and Medical Genetics, University Hospital Ghent, Belgium, De Pintelaan 185, Ghent, 9000, Belgium

    Julie De Backer MD, PhD

  2. Center for Medical Genetics, University Hospital Ghent, Belgium, De Pintelaan 185, Ghent, 9000, Belgium

    Marjolijn Renard PhD

Authors
  1. Julie De Backer MD, PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marjolijn Renard PhD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Julie De Backer MD, PhD .

Editor information

Editors and Affiliations

  1. American University of Beirut Medical Center, Beirut, Lebanon

    Adel Berbari

  2. University of Milano Bicocca IRCCS Istituto Auxologico Italiano, Milan, Italy

    Giuseppe Mancia

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer International Publishing Switzerland

About this chapter

Cite this chapter

De Backer, J., Renard, M. (2015). Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections. In: Berbari, A., Mancia, G. (eds) Arterial Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-14556-3_19

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-14556-3_19

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-14555-6

  • Online ISBN: 978-3-319-14556-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation