MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.
Sara SeitunLaura MassobrioAnna RubegniClaudia NestiMargherita Castiglione MorelliSara BoccaliniAthena Galletto PregliascoIrilda BudajLuca DeferrariGian Marco RosaFabrizio MontecuccoAlberto ValbusaPublished in: Case reports in cardiology (2016)
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 tRNALeu(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.
Keyphrases
- left ventricular
- copy number
- cardiac resynchronization therapy
- case report
- mitochondrial dna
- oxidative stress
- hypertrophic cardiomyopathy
- heart failure
- single cell
- acute myocardial infarction
- genome wide
- aortic stenosis
- left atrial
- mitral valve
- high resolution
- atrial fibrillation
- palliative care
- dna methylation
- gene expression
- fluorescence imaging
- brain injury
- liver fibrosis