Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis

Abstract

A six day old boy died from an hereditary hypertrophic cardiomyopathy which was associated with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis. In heart and skeletal muscle identical mitochondrial abnormalities were found: paucity and abnormal arrangement of cristae, formation and extrusion of vesicle-like structures and crystalline inclusions in the matrix compartment. Electron-cytochemistry revealed that only part of the mitochondria reacted positively for cytochrome oxidase activity. Morphometric analysis indicated that the cardiomegaly was due to cellular hypertrophy, which might be caused by an increase in the mitochondrial mass. The cardiac hypertrophy in this syndrome can be classified histopathologically as mitochondrial hypertrophic cardiomyopathy.

Rapid Progression of Cardiomyopathy in Mitochondrial Diabetes

“…3,10 A morphometric study of myocardium in a patient with mitochondrial myopathy and HCM showed that the LVH was mainly due to cellular hypertrophy, which was attributed to increased mitochondrial mass. 11 Therefore, mitochondrial metabolic alterations due to the 3243 mutation would cause a compensatory increase in cardiac mitochondria, which leads to LVH.…”

A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

“…Hospital files from the patients mentioned in literature [1,3,6,7,8,10] were studied. Clinical data are summarised in Table 1.…”

“…Quantitative ultrastructural data were derived by morphometric analysis according to the rules of Weibel [11]. Methods of morphometric analysis are described elsewhere [10]. We estimated the volume density (Vv) of subsarcolemmal mitochondria (i.e.…”

“…At that time the other patients were alive. Since the first report several aspects from nine new patients were presented in literature [3,7,8,10]. Three of these patients died in the perinatal period and three between 8 months and 3.5 years.…”

Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy

“…The association of mitochondrial encephalomyopathy and cataract has been frequently reported in congenital cases (15)(16)(17)(18)(19)(20), but it has also been reported in an adult case (21 …”