Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.

ABSTRACT:

Background

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations. We report a case of suspected MELAS syndrome that progressed to left ventricular dysfunction 24 years after an initial diagnosis of atrioventricular block (AVB).

Case summary

A 51-year-old woman was referred to heart failure clinic because of dyspnoea on exertion and progressive cardiomegaly. She had a dual-chamber pacemaker implanted for 24 years because of a high-degree AVB. She was treated for diabetes mellitus for 23 years and used hearing aids for 12 years because of sensorineural hearing loss. Transthoracic echocardiography revealed reduced left ventricular ejection fraction (26%), with i

SUBMITTER: Lee SH 

PROVIDER: S-EPMC9887669 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature