Published 2016 | Version v1
Publication

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Description

A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNA(Leu(UUR)) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted.

Additional details

Identifiers

URL
http://hdl.handle.net/11567/863873
URN
urn:oai:iris.unige.it:11567/863873

Origin repository

Origin repository
UNIGE