Echocardiographic findings in children with Marfan syndrome

BACKGROUND The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation. In this study, we aimed to show echocardiographic findings in 11 patients with Marfan syndrome. METHODS Diagnosis of Marfan syndrome was based on the Ghent criteria. All patients had a full echocardiographic evaluation. During the evaluation, we investigated the presence of mitral valve prolapse, mitral valve regurgitation, tricuspid valve prolapse, dilatation of the aortic root, and aortic regurgitation. RESULTS Eleven patients were diagnosed as Marfan syndrome (seven male, four female, age 4-14 years). All had mitral valve prolapse (nine with mitral valve regurgitation). Among these 11 patients, seven had accompanying tricuspid valve prolapse, six had dilatation of the aortic root and two had aortic regurgitation. CONCLUSION Eleven patients in our clinic were diagnosed as Marfan syndrome since they had distinct characteristics of marfanoid phenotype. Echocardiographic evaluation of these patients showed marked heart valve involvement. In Marfan syndrome, it is known that the aortic valve is affected following mitral valve involvement. In our experience, aortic root dilatation is less common. However, particular attention should be given to following up aortic root status with noninvasive echocardiography to institute measures to prevent complications.