Cardiac abnormalities in patients with Leber's hereditary optic neuropathy.

Leber’s hereditary optic neuropathy (LHON) is characterised by acute or subacute central visual loss that typically occurs in early adult life. Three mitochondrial DNA (mtDNA) point mutations, 3460, 11778, and 14484, account for more than 90% of all LHON cases. Cardiac involvement in LHON has been suspected ever since Leber’s original 1871 report in which some patients with the disease complained of palpitations. The aim of this study was to determine the prevalence and nature of cardiac abnormalities in patients with LHON by systematically evaluating cardiac structure and function using echocardiography and adenosine testing.