Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.
Idiopathic dilated cardiomyopathy (DCM) is often familial, but the pathogenetic mechanisms of DCM are unknown. We report a woman and her son who both died of DCM. The son's cardiac and skeletal muscles showed a high proportion of mitochondrial DNA (mtDNA) with multiple large deletions by Southern-blot hybridisation and polymerase chain reaction analyses. Amplification of the mother's cardiac mtDNA from 20-year-old paraffin-embedded sections showed that she also had deletions of mtDNA. These data suggest that a subgroup of inherited DCMs is associated with mtDNA mutations.
Suomalainen
A
A
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Paetau
A
A
Leinonen
H
H
Majander
A
A
Peltonen
L
L
Somer
H
H
D000293:Adolescent; D000328:Adult; D001345:Autoradiography; D001706:Biopsy; D015139:Blotting, Southern; D006328:Cardiac Catheterization; D002311:Cardiomyopathy, Dilated / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics / Q000648:ultrastructure; D004452:Echocardiography; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D006439:Hemodynamics; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial