Case Report TEHRAN HEART CENTER Cardiovascular Manifestation of a Family with Marfan’s Syndrome Mohammad Hossein Davari, MD1, Toba Kazemi, MD1*, Hossein Alimirzaei, MD2, Mohamad Reza Rezvani, MD1 1Birjand Cardiovascular Research Center, Birjand University of Medical Sciences, Birjand, Iran. 2Vali Asr Hospital, Birjand University of Medical Sciences, Birjand, Iran. Received 24 May 2010; Accepted 23 August 2010 Abstract Marfan’s syndrome (MFS) is a genetic disorder associated with autosomal dominant inheritance. In MFS, the most prevalent cause of death is cardiovascular involvement. Here we introduce a family with a severe penetration of MFS. Eleven members of this family have MFS (father, two daughters, three sons, and five grandchildren). The most common cardiac involvement in our patients was mitral valve prolapse as manifested by mitral regurgitation. At ten years’ follow-up, two patients had aortic root dilatation running the risk of aortic dissection; they were, therefore, scheduled for cardiac surgery, during which the Bental procedure was successfully performed. Fortunately, all of the members of this family are currently alive. J Teh Univ Heart Ctr 2011;6(1):37-40 This paper should be cited as: Davari MH, Kazemi T, Alimirzaei H, Rezvani MR. Cardiovascular manifestation of a family with marfan’s syndrome. J Teh Univ Heart Ctr 2011;6(1):37-40. Keywords: Marfan syndrome • Connective tissue diseases • Family • Cardiac manifestation Introduction Marfan’s syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and affects about 1 in 5,000 individuals. The cause of MFS is mutation in fibrillin gene on chromosome 15.1 The defective gene can be inherited, so the child of a person who has MFS has a 50% chance of inheriting the disease.1 No geographic, gender, and race predilection is known.2 MFS can affect several organs, including the skeleton, eyes, heart, and blood vessels.1 The diagnosis of MFS is confirmed by clinical signs, although genetic and molecular tests enhance diagnostic certainty. Currently, the main diagnostic criterion is the Ghent nosology.3 Cardiovascular disease (aortic dilatation and dissection) is the major cause of morbidity and mortality in MFS patients.4 *Corresponding Author: Toba Kazemi, Associate Professor of Cardiology, Birjand University of Medical Sciences, Birjand Cardiovascular Research Center, Ghaffari Street, Valiassr Hospital, Birjand, Iran. Tel: +98 56 1443001-9. Fax: +98 56 14433004. E-mail: drtooba.kazemi@gmail.com. Figure 1. Family members with Marfan’s syndrome. From left to right: father (1), first son and his daughter (2, 3), second son and his two sons (4-6), third son (7), second daughter and her son (8-9), and first daughter and her daughter (10-11) The Journal of Tehran University Heart Center 37