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This editorial refers to ‘Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases’, by K. Wahbi et al ., on page doi:10.1093/eurheartj/ehv307. Reports of cardiac involvement in mitochondrial diseases in the past often referred to only small series of patients describing a wide variety of presentations, including conduction system diseases, left ventricular (LV) myocardial non-compaction, heart failure (HF), or hypertrophic and dilated cardiomyopathy (for reviews, see Myers et al .,1 Limongelli et al .,2 and Bates et al .3). In contrast to these studies, Wahbi et al .4 have designed a survival analysis not only to measure the prevalence of cardiac involvement, but also to determine long-term cardiac prognosis and to identify predictors of major adverse cardiac events.Mitochondrial diseases caused by either mitochondrial or nuclear DNA defects include various clinical disorders as a result of an impaired energy metabolism due to a dysfunctional cellular oxidative phosphorylation.1 Mitochondrial DNA (mtDNA) disease appears to be more common than previously expected, causing disease in ∼1 in 5000–10 000 individuals.5 The m.3243A>G mutation, for example, is present in 1 in 300 individuals of the general population, but most often is asymptomatic, while many individuals possess low levels of mutation (<1%). This results from the fact that in the case of pathogenic mtDNA mutations, two or more distinct mitochondrial genomes exist within the same cell or tissue at different percentages (heteroplasmy induced by random mitotic segregation). Typically, maternally inherited mtDNA mutations become of clinical relevance if the proportion of mutated mtDNA exceeds a threshold level of typically 60–90%. For that reason, mtDNA mutation load and threshold may affect the onset …

Mitochondrial disorders with cardiac dysfunction: an under-reported aetiology with phenotypic heterogeneity