Arq. Bras. Cardiol. 2024; 121(5): e20230489
Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death
Diana Carvalho
, Simão Carvalho, Adriana Pacheco
, Carlos Costa, Pedro Carvalho
, Raquel Ferreira, Ana Briosa
Introduction
Marfan syndrome (MS) is a systemic disease of the connective tissue with an autosomal dominant transmission, usually associated with a mutation in the fibrillin 1 gene (FBN1). The estimated prevalence is 6.5/100,000. According to the revised Ghent criteria, mutation in the FBN1 gene, lens ectopy, and aortic root dilation are the key factors for the diagnosis of MS., Life expectancy is essentially determined by cardiovascular complications, particularly aortopathy.
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Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death
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