A Silent and Catastrophic Cardiac Complication in a Marfan Syndrome Patient With Blurred Vision: A Case Report

Document Type : Case Report

Authors

1 Department of Cardiology, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

2 School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

Abstract

Marfan syndrome is an autosomal dominant genetic disorder owing to insufficient fibrillin-1 that involves connective tissue, with an incidence rate of approximately 2–3/10000 in most populations. Almost 25% of cases are caused by new mutations and are sporadic. Marfan syndrome leads to not only skeletal and ocular complications (eg, ectopia lentis and retinal detachment) but also cardiac complications, which are the most significant. Critical cardiovascular complications that can occur include mitral valve prolapse, mitral regurgitation, aortic regurgitation, aortic aneurysms, dilation of the sinus of Valsalva, aortic dissection, and rupture. The diagnosis of Marfan syndrome is based on the Ghent nosology. Since cardiac manifestations are life-threatening, they need to be diagnosed and treated promptly. The treatment of cardiac complications comprises surgical and pharmacological therapy. Here, we introduce an asymptomatic case of Marfan syndrome with blurred vision and severe cardiac manifestations discovered during cardiac assessments before eye surgery. (Iranian Heart Journal 2024; 25(1): 112-117)

Keywords

References

  1. Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and D Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762. PMID: 27297344; PMCID: PMC5031368.
  2. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005 Dec 3; 366(9501):1965-76. doi:10.1016/S0140-6736(05)67789-6. PMID: 16325700; PMCID: PMC1513064.
  3. Isekame Y, Gati S, Aragon-Martin JA, Bastiaenen R, Kondapally Seshasai SR, Child A. Cardiovascular Management of Adults with Marfan Syndrome. Eur Cardiol. 2016 Dec; 11(2):102-110. doi:10.15420/ecr/2016:19:2. PMID:30310455; PMCID: PMC6159454.
  4. Child AH. Non-cardiac manifestations of Marfan syndrome. Ann Cardiothorac Surg. 2017 Nov; 6(6):599-609. doi:10.21037/acs.2017.10.02. PMID:29270372; PMCID: PMC5721104.
  5. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. PMID: 20591885.
  6. Yang JH, Han H, Jang SY, et al. A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. Am J Med Genet A. 2012; 158A(5):989–95.
  7. Rubin SE, Nelson LB. Ocular manifestations of autosomal dominant systemic conditions. Duane's Clinical Ophthalmology. Vol. 3, Ch 58. Philadelphia: Lippincott Williams and Wilkins; 2006.
  8. Nemet AY, Assia EI, Apple DJ, Barequet IS. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol 2006; 51:561-75.
  9. Abboud EB. Retinal detachment surgery in Marfan's syndrome. Retina 1998; 18:405-9.
  10. Remulla JF, Tolentino FI. Retinal detachment in Marfan's syndrome. Int Ophthalmol Clin 2001; 41:235-40.
  11. Child, A.H. Diagnosis and Management of Marfan Syndrome; Springer: London, UK, 2016; ISBN 9781447154426. [Google Scholar]
  12. Halloran BG, Davis VA, McManus BM, Lynch TG, Baxter BT. Localization of aortic disease is associated with intrinsic differences in aortic structure. J Surg Res 1995; 59:17–22.
  13. Chung AW, Yang HH, Yeung KA, van Breemen C. Mechanical and pharmacological approaches to investigate the pathogenesis of Marfan syndrome in the abdominal aorta. J Vasc Res 2008; 45:314–322.
  14. Jondeau G, Boutouyrie P, Lacolley P, et al. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Circulation 1999; 99:2677–2681.
  15. Kouchoukos NT, Dougenis D. Surgery of the thoracic aorta. N Engl J Med 1997; 336:1876–1888.
  16. Elefteriades JA. Thoracic aortic aneurysm: reading the enemy’s playbook. Curr Probl Cardiol 2008; 33:203–277.
  17. Davies RR, Goldstein LJ, Coady MA, et al. Yearly rupture or dissection rates for thoracic aortic aneurysms: simple prediction based on size. Ann Thorac Surg. 2002; 73:17–27.
  18. Gott VL, Greene PS, Alejo DE, et al. Replacement of the aortic root in patients with Marfan's syndrome. N Engl J Med. 1999; 340:1307–1313.
  19. Roman MJ, Rosen SE, Kramer-Fox R, Devereux RB. Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol. 1993; 22:1470–1476.
  20. Silverman DI, Gray J, Roman MJ, et al. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol. 1995; 26:1062–1067.
  21. Baumgartner FJ, Omari BO, Robertson JM. Weight lifting, Marfan's syndrome, and acute aortic dissection. Ann Thorac Surg. 1997; 64:1871–1872.
  22. Turk UO, Alioglu E, Nalbantgil S, Nart D. Catastrophic cardiovascular consequences of weight lifting in a family with Marfan syndrome. Turk Kardiyol Dern Ars. 2008; 36:32–34.
  23. Kohler M, Blair E, Risby P, et al. The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan's syndrome. Thorax. 2009; 64:162–166.
  24. Mueller GC, Stark V, Steiner K, et al. Impact of age and gender on cardiac pathology in children and adolescents with Marfan syndrome. Pediatr Cardiol 2013; 34:991-8. [Crossref] [PubMed]
  25. Holmes KW, Maslen CL, Kindem M, et al. GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. Am J Med Genet A 2013; 161A:779-86. [Crossref] [PubMed]
  26. Brown OR, DeMots H, Kloster FE, Roberts A, Menashe VD, Beals RK. Aortic root dilatation and mitral valve prolapse in Marfan’s syndrome: an Echocardiographic study. Circulation. 1975; 52:651–657.
  27. Détaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010; 31:2223–2229
  28. Von Kodolitsch, Y.; Demolder, A.; Girdauskas, et al. Features of Marfan syndrome not listed in the Ghent nosology—The dark side of the disease. Expert Rev. Cardiovasc. Ther. 2019, 17, 883–915.
  29. De Backer JFDevos DSegers PMatthys DFrancois KGillebert TC. Primary impairment of left ventricular function in Marfan syndrome. Int J Cardiol 2006; 112:353–8.
  30. Porciani, M.C.; Attanasio, M.; Lepri, V.; et al. Prevalence of cardiovascular manifestations in Marfan syndrome. Heart J. Suppl. Off. J. Ital. Fed. Cardiol. 2004, 5.
  31. Rybczynski, M.; Mir, T.S.; Sheikhzadeh, S, et al. Frequency and Age-Related Course of Mitral Valve Dysfunction in the Marfan Syndrome. J. Cardiol. 2010, 106, 1048–1053.
  32. Milleron, O.; Arnoult, F.; Delorme, G, et al. Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients with Marfan Syndrome. Am. Coll. Cardiol. 2020, 75, 843–853.
Iranian Heart Journal
Volume 25, Issue 1
January 2024
Pages 112-117

Files

Share

How to cite

Statistics