MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach

Area of Science:

• Cardiology
• Genetics
• Neurology

Background:

• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) is a multisystem disorder.
• Cardiac involvement is a serious complication of MELAS, increasing mortality risk.
• Left ventricular hypertrophy and myocardial fibrosis are potential cardiac manifestations.

Purpose of the Study:

• To report a case of cardiac involvement in a patient with MELAS.
• To identify the genetic basis of cardiac symptoms in this patient.
• To highlight the importance of cardiac monitoring and management in MELAS.

Main Methods:

• Clinical presentation assessment including chest pain, dyspnea, and lactic acidosis.
• Cardiac evaluation including echocardiography to detect left ventricular hypertrophy and myocardial fibrosis.
• Mitochondrial genome sequencing to identify mutations in the mitochondrial DNA (mtDNA).

Main Results:

• The patient presented with symptoms suggestive of cardiac compromise.
• Mitochondrial genome sequencing identified the m.3243A>G point mutation in the tRNA^Leu(UUR) gene.
• The findings confirmed cardiac involvement secondary to MELAS.

Conclusions:

• The m.3243A>G mtDNA mutation is associated with cardiac manifestations in MELAS.
• Early diagnosis and management of cardiac complications are crucial in MELAS patients.
• Implantation of a cardioverter defibrillator is indicated in high-risk MELAS patients to prevent sudden cardiac death.