Leber’s Hereditary Optic Neuropathy and Hypertrophic Cardiomyopathy

CJC Open. 2022 Jun 17;4(9):813-815. doi: 10.1016/j.cjco.2022.06.005. eCollection 2022 Sep.


Leber’s hereditary optic neuropathy (LHON) is a mitochondrial condition that gradually affects the central vision. In the current case report, we present 2 relatives with LHON due to a pathogenic variant within ND1 with a clinical phenotype resembling hypertrophic cardiomyopathy, including a short PQ-interval and hypertrophy on electrocardiogram as well as severe hypertrophy of the left ventricle on echocardiography. These findings highlight the importance of offering routine cardiac investigation to patients with LHON and their relatives carrying the ND1 variant to hopefully improve correct diagnosis and clinical management of LHON patients.

PMID:36148257 | PMC:PMC9486854 | DOI:10.1016/j.cjco.2022.06.005