Abstract

Hypertrophic cardiomyopathy is a genetically determined heart muscle disease, and patients are at an increased risk for sudden cardiac death. We report the case of a 39-year-old White man who was found dead at home unexpectedly. He had a cardiac transplant for congenital heart disease at the age of 12 and his condition was maintained with immunosuppression ever since with good cardiac function and right bundle branch block. At autopsy, the heart was enlarged with a weight of 591 g and had fibrous adhesions of the pericardium with endothelialized sutures in the atria and great vessels in keeping with heart transplant. There was focal septal hypertrophy noted on short axis cut. There was diffuse thickening of the coronary arteries, but no significant stenosis was noted. On microscopic examination of the heart, sections of right and left ventricle showed myocyte hypertrophy with extensive widespread myocyte disarray and replacement fibrosis. The histologic appearance was that of hypertrophic cardiomyopathy, which was responsible for his sudden unexpected death. This postmortem diagnosis of hypertrophic cardiomyopathy in a transplanted heart has major implications for the donor family because of the inherited nature of the condition. Follow-up with the donor family is essential in this unique case. This case highlights the importance of autopsy in transplant death cases. Hypertrophic cardiomyopathy in the donor heart most likely did not manifest phenotypically at the time of transplant in this case because the majority present in adolescence and early adulthood, rarely in childhood. This is first report of such a case.