Document Type : Case Report

Authors

1 Department of Cardiology, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

2 School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

Abstract

Marfan syndrome is an autosomal dominant genetic disorder owing to insufficient fibrillin-1 that involves connective tissue, with an incidence rate of approximately 2–3/10000 in most populations. Almost 25% of cases are caused by new mutations and are sporadic. Marfan syndrome leads to not only skeletal and ocular complications (eg, ectopia lentis and retinal detachment) but also cardiac complications, which are the most significant. Critical cardiovascular complications that can occur include mitral valve prolapse, mitral regurgitation, aortic regurgitation, aortic aneurysms, dilation of the sinus of Valsalva, aortic dissection, and rupture.The diagnosis of Marfan syndrome is based on the Ghent nosology. Since cardiac manifestations are life-threatening, they need to be diagnosed and treated promptly. The treatment of cardiac complications comprises surgical and pharmacological therapy. Here, we introduce an asymptomatic case of Marfan syndrome with blurred vision and severe cardiac manifestations discovered during cardiac assessments before eye surgery. (Iranian Heart Journal 2024; 25(1): 112-117)

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