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Sereena Saju*, Maria K. Manu, Fedrin V. Varghese, Feba John, Bhavani Sekar, Dr. Samhitha Chetty, PharmD


Marfan syndrome (MFS) is a pleiotropic connective tissue disorder inherited as an autosomal dominant trait, due to mutations in the fibrillin-1 gene (FBN1). The understanding of the molecular functions of the fibrillin containing microfibrils is still obscure and correspondingly, no comprehensive pathogenetic theory of Marfan syndrome has emerged to date. The diagnosis remains clinical and is based on the revised Ghent nosology. Since, the cardiovascular complications remains the utmost risk factor for morbidity and mortality, the treatment includes prophylactic beta-blockers and angiotensin II-receptor blockers to slow down the dilation of the ascending aorta and prophylactic aortic surgery as a major contributing factor to MFS. However, due to advancement in medical and surgical therapy, life expectancy has improved dramatically. This review article aims to provide an overview of this rare hereditary disorder, by focusing on the epidemiology, etiology, clinical diagnosis based on revised Ghent criteria and recommendations for the management of affected individuals.

Keywords: Marfan syndrome, FBN1, TGF-?, revised Ghent nosology, aortic root dilatation (AoR), beta-blockers

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