The expanding cardiovascular phenotype of Marfan syndrome

Abstract

In this issue of the journal, Kiotsekoglou et al. report on right ventricular systolic dysfunction in patients with Marfan syndrome (MFS). Over the past years, several studies have demonstrated mild, though significant, left ventricular systolic and diastolic dysfunction in patients with MFS.1–5 This is the first study indicating impaired right ventricular function. Marfan syndrome is an autosomal dominant connective-tissue disorder caused by mutations in the fibrillin-1 gene ( FBN1 ). Cardiovascular manifestations are mainly characterized by progressive dilatation of the aortic root, leading to aneurysm formation which may—when left untreated—lead to aortic dissection or rupture. Other established cardiovascular manifestations include mitral valve prolapse, dilatation of the pulmonary artery, and dilatation or dissection of the descending thoracic or abdominal aorta. Although not commonly related to MFS, dilated cardiomyopathy, beyond that explained by aortic or mitral valve regurgitation, seems to occur with higher prevalence in patients with MFS, implicating involvement of the extracellular matrix protein fibrillin-1 in ventricular structure and/or function.6 Whether left ventricular dysfunction is a rare but severe complication of MFS or rather a widespread but generally asymptomatic finding was unclear until recently. Several studies have now demonstrated that both systolic and diastolic left ventricular functions are impaired in patients with MFS. These alterations may already be present in childhood.1–4 This study by Kiotsekoglou … Corresponding author. Tel: +32 9 332 3476; fax: +32 9 332 3462. E-mail address : julie.debacker{at}UGent.be