Sudden adult death syndrome in m.3243A > G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

摘要

Aims To provide insight into the mechanism of sudden adult death syndrome (SADS) and to give new clinical guidelines for the cardiac management of patients with the most common mitochondrial DNA mutation, m.3243A>G. These studies were initiated after two young, asymptomatic adults harbouring the m.3243A>G mutation died suddenly and unexpectedly. The m.3243A>G mutation is present in similar to 1 in 400 of the population, although the recognized incidence of mitochondrial DNA (mtDNA) disease is similar to 1 in 5000.