Genetic testing for Marfan syndrome

Open access


Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological manifestations. Prevalence varies from 6 to 20 per 100,000 individuals. Revised Ghent Nosology (2010) is used to establish a clinically based suspected diagnosis to be confirmed by molecular testing. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

1. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005; 366(9501): 1965-1976.

2. Radke RM, Baumgartner H. Diagnosis and treatment of Marfan syndrome: an update. Heart 2014; 100(17): 1382-1391.

3. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM; 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; Society for Vascular Medicine. 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 2010;121(13): e266-369.

4. Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol; 75(2): 157-60.

5. Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, Stochholm K, Østergaard JR, Andersen NS, Gravholt CH. Prevalence, incidence, and age at diagnosis in Marfan Syndrome. Orphanet J Rare Dis 2015; 10: 153.

6. Sun QB, Zhang KZ, Cheng TO, Li SL, Lu BX, Zhang ZB, Wang W. Marfan syndrome in China: a collective review of 564 cases among 98 families. Am Heart J 1990; 120(4): 934–48.

7. Von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart 2007; 93(6): 755-60.

8. Brennan P. Revised diagnostic criteria for Marfan syndrome. J R Coll Physicians Edinb 2011; 41(3): 223.

9. Dietz H. Marfan Syndrome. In: MP Adam, HH Ardinger, RA Pagon, SE Wallace, LJH Bean, et al., editors. GeneReviews(R) 1993; Seattle (WA).

10. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007; 81(3): 454-66.

Journal Information


All Time Past Year Past 30 Days
Abstract Views 0 0 0
Full Text Views 89 89 35
PDF Downloads 50 50 20