Familial Dissecting Aortic Aneurysm in the Absence of Marfan's Syndrome with Review of the Literature: Case Report

Abstract

This is a report of familial aortic dissection in a mother and son with no evidence of Marfan's syndrome in either patient. The mother, a fifty-three—year-old nurse, was evaluated initially for a four-year history of untreated hypertension and heart murmurs. Multiple cardiac complaints, including shortness of breath and chest pain on exertion, with a strong smoking history associated with an Austin-Flint murmur were noted. Subsequent laboratory studies, including electrocardiogram and cardiac catheterization, confirmed the diagnosis of dissection in the ascending aorta with free communication with an aneurysmal sac. Operative intervention included a Dacron prosthesis and porcine xenograft for aortic valve replacement. The postoperative course is unremarkable and the patient remains well after eleven years. Her twenty- eight-yearold son had a heart murmur identified on an office visit for a recurrent upper respiratory infection. Increased symptoms of shortness of breath, pulsus bisferiens, and an Austin-Flint murmur, along with findings on electrocardiogram and subsequent cardiac catheterization, confirmed the diagnosis of dissecting aortic aneurysm. The patient did not tolerate surgical intervention and a supraventricular tachycardia resulted in his death. Autopsy confirmed the extent of dissection, a 630-g heart with biventricular dilatation, hypertrophy, and dilatation of the atria; there was extensive cystic medial necrosis in the aorta. Marfan's syndrome is excluded because of the genetic predisposition to dissecting aortic aneurysm and no other findings of the Marfan's syndrome were identified. This report is to document the genetic predisposition and identification of 2 cases of congenital aortic dissection and its consequences.