Mitochondrial DNA deletion diagnosed by analysis of an endomyocardial biopsy specimen from a patient with Kearns-Sayre syndrome and complete heart block.

Defects of mitochondrial DNA have been found at necropsy in the myocardium of patients with Kearns-Sayre syndrome. A patient with characteristics typical of Kearns-Sayre syndrome and a complete heart block is described. Southern blot analysis showed a deletion of 3.3 kb in the mitochondrial DNA in an endomyocardial biopsy specimen and in skeletal muscle. The deletion led to the disappearance of the genes for four transfer RNAs and four subunits of complex I (NADH:ubiquinone oxidoreductase) in the mitochondrial respiratory chain. The defect could not be demonstrated in whole blood despite amplification of the mitochondrial DNA region of interest by the polymerase chain reaction technique. There can be heteroplasmy--that is, normal and abnormal mitochondrial DNA populations in one cell--in different tissues, and the degree of heteroplasmy may be crucial in the development of organ-specific symptoms. This patient raises the possibility that some tissues can be specifically enriched with mitochondria with DNA defects and emphasises the need for elective sampling of the target tissue and polymerase chain reaction technique to exclude these defects. The role of mitochondrial DNA defects in idiopathic cardiomyopathies could perhaps be studied by analysis of mitochondrial DNA from endomyocardial biopsy specimens.