Sudden death in marfan syndrome- rare autopsy findings

When sudden death occurs in adults and elderly persons, coronary atherosclerosis is the most common cause. On the contrary, a large spectrum of cardiovascular diseases both congenital and acquired may account for sudden death in young. These diseases are frequently concealed and discovered with surprise only at post-mortem by means of thorough macroscopic and microscopic examination. Marfan syndrome is a heritable condition that affects the connective tissue. It maps to chromosome 5q15 and defective gene that encodes fibrillin-1. Ghent's criterion is widely used in diagnosing Marfan syndrome.

Here we present a case of typical Marfan's phenotype with tall stature, arachnodactyly, high arched palate and other features. The autopsy on this case was conducted at Victoria Hospital mortuary attached to B.M.C.R.I., Bengaluru. At autopsy we found an abnormally large heart weighing 1.450kg, aortic root dilatation, atrophied left lung due to pressure effects and a compensatory over-inflation of right lung. Aortic dissection and cystic medial degeneration of aorta remains the salient Histopathological examination findings.