Massive Ascending Aortic Dilation in a Patient with Marfan Syndrome: A Case Report

Abstract

Aortic complications in Marfan syndrome can be life-threatening, yet this case uniquely illustrates the catastrophic consequences of delayed diagnosis in a young patient. We report a 21-year-old man with a family history of Marfan syndrome who presented with acute dyspnea and tearing chest pain. Clinical examination revealed a systemic score ≥7, including arachnodactyly, pectus carinatum, thoracolumbar scoliosis, pes planus, and characteristic facial features. Transthoracic echocardiography demonstrated a massive ascending aortic aneurysm (sinuses of Valsalva up to 84 mm), an intimal flap consistent with Stanford type A aortic dissection, severe aortic regurgitation (regurgitant volume 72 mL), severe left ventricular dysfunction (LVEF 24%), and severe tricuspid regurgitation. Computed tomography confirmed the aortic aneurysm and dissection. Urgent Bentall procedure with tricuspid annuloplasty was recommended, but the clinical outcome was rapidly fatal within hours of diagnosis. To our knowledge, this degree of ascending aortic dilation (>80 mm) in such a young adult, combined with multi-valvular involvement and acute dissection, represents one of the most extreme presentations of Marfan syndrome reported. This case underscores the critical importance of early diagnosis and regular echocardiographic surveillance in patients with heritable connective tissue disorders.