A case of cardiomyopathy showing progression from the hypertrophic to the dilated form - Association of Mt8348A -> G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes

This report describes a case of cardiomyopathy with a novel point mutation of mitochondrial DNA coding lysine tRNA in association with severe ultrastr uctural alterations of the mitochondria in the cardiomyocytes. Abnormalitie s of energy production and/or abnormal protein synthesis because of the mut ation of mitochondrial DNA may have played an important role in the pathoge nesis of this case, which showed severe cardiomyocyte degeneration and dete rioration from hypertrophic cardiomyopathy to severe dilated cardiomyopathy .