Diagnosis and Management of Marfan Syndrome
AbstractBackground: Marfan syndrome is an autosomal dominant disorder of connective tissue, involving cardiovascular, ocular, skeletal and skin, pulmonary, and dura mater. Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15q21 encoding fibrillin-1, a glycoprotein in the extracellular matrix. Prevalence is ~2–3 per 10 000, and ~25–30% are new mutations. Morbidity and mortality mostly caused by dilation of the aortic root. Surgical therapy for aortic aneurysm can reduce life-threatening complication and also increase survival rate of Marfan syndrome. It is necessary to diagnose earlier and give appropriate medical therapy for optimal management of Marfan syndrome.
Objective: to present a rare case, Marfan syndrome, viewed from diagnosis and management.
Summary: A 32 year old woman diagnosed as severe AR was referred to NCCHK from Malang, East Java. According to several examination in clinic, this patient was diagnosed as severe AR on Marfan syndrome. Early diagnosis in Marfan syndrome will make better outcome. Bentall operation was done to this patient with a good result. Appropriate and continuous medical therapy are needed in post Bentall operation on Marfan syndrome patient.
Loeys BL DH, Braverman AC, Callewaert BL, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010. 2010;47:476-85.
Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation 2008;117:2802-13
Dean JC. Management of Marfan syndrome. Heart 2002;88:97-103
Chiu HH,Wu MH,Wang JK, et al. Losartan Added to b-Blockade Therapy for Aortic Root Dilation in Marfan Syndrome:A Randomized, Open-Label Pilot Study. Mayo clinic proceedings 2013;88(3):271-276
Vahanian A, Alfieri O, Andreotti F, et al. Guidelines on the management of valvular heart disease: The Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC) and the European Association for Cardio-Thoracic Surgery (EACTS). European heart journal 2012;33:2451-96
Cozijnsen L, Braam RL, Waalewijn RA, et al. What is new in dilatation of the ascending aorta? Review of current literature and practical advice for the cardiologist. Circulation 2011;123:924-8
Chung AW, Yang HH, Radomski MW, van Breemen C. Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9. Circulation research 2008;102:e73-85
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