Mitochondrial cardiovascular diseases

Abstract

Primary disorders of mitochondrial dysfunction due to mutations in nuclear genes or mitochondrial DNA can present with cardiac phenotypes, either in isolation or within the context of a multi-system mitochondrial encephalomyopathy. Hypertrophic cardiomyopathy and conduction defects are common, but other cardiac manifestations have been described. A systematic approach to the biochemical and/or genetic evaluation of these patients will usually identify the underlying cause, enabling genetic counseling and supportive management of both the cardiac and extra-cardiac features.