Cardiac and Muscular Pathology on Autopsy in a Man with Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a degenerative muscle disease characterized by a progressive decline in muscular function, with cardiomyopathy in the later stages. We report the autopsy findings of a 29-year-old man with DMD. He had been stable with the assistance of mechanical ventilation until he was found unconscious, without known cause. External examination confirmed generalized muscular atrophy and contracture consistent with his clinical history. Histopathology revealed varying degrees of fibrofatty changes in the muscles, with the calf muscles being the most extensively affected, followed by the diaphragm and heart. The cardiac muscle showed the least involvement and the pathology was confined to the left ventricular wall and the interventricular septum, exhibiting a unique morphology of fibrosis resembling stretched springs. The cause of death was attributed to cardiac failure due to DMD progression. This case highlights the clinical course of DMD, emphasizing the need for thorough examination of both skeletal and non-skeletal muscles, including the cardiac muscles, to obtain a better understanding of the disease.