Catastrophic cardiovascular consequences of weight lifting in a family with Marfan syndrome

Marfan syndrome primarily involves the musculoskeletal, cardiovascular, and ocular systems. Isometric exercises such as weight lifting lead to significant stress along the aortic wall and predispose patients to dissection and rupture. A 30-year-old male patient presented with a complaint of back pain. He had a history of two operations for recurrent inguinal hernia. His father and elder brother died on separate occasions following loss of consciousness after weight lifting. He also had a brother who had undergone an emergency operation for De Bakey type I acute aortic dissection after presentation with acute back pain following weight lifting. The patient was 180 cm tall, had elongated limbs and arachnodactyly. On auscultation, there was a diastolic murmur of 1-2/6 over the aortic area. A chest roentgenogram demonstrated mild cardiomegaly and mediastinal widening. Transthoracic echocardiography showed moderate aortic insufficiency with dilatation of the aortic root and ascending aorta. He was diagnosed as having Marfan syndrome and underwent complete replacement with a composite aortic valve-ascending aortic conduit. Histologic sections of the ascending aortic wall showed medial cystic and myxoid degeneration and loss of nuclei in the media. Von Gieson staining showed elastic fragmentation and loss of elastic lamellae. Screening of other family members showed Marfan syndrome in his sister and in one of his nephews. His other two brothers had Marfanoid habitus without findings of systemic involvement.