Home > Riviste > Minerva Cardiology and Angiology > Fascicoli precedenti > Articles online first > Minerva Cardiology and Angiology 2022 Jun 29



Opzioni di pubblicazione
Per abbonarsi
Sottometti un articolo
Segnala alla tua biblioteca


Publication history
Per citare questo articolo


Review Article   

Minerva Cardiology and Angiology 2022 Jun 29

DOI: 10.23736/S2724-5683.22.06021-5


lingua: Inglese

Acute myocardial infarction in a patient with MELAS syndrome: a possible link?

Joseph COSMA 1, 2 , Alessandro RUSSO 1, Sofia SCHINO 1, Martina BELLI 1, Ruggiero MANGO 1, Gaetano CHIRICOLO 1, Eugenio MARTUSCELLI 1, Enrica G. MARIANO 1

1 Department of Cardiology, University of Rome Tor Vergata, Rome, Italy; 2 Department of Cardiology, Saint Martin Private Hospital Center, Caen, France


INTRODUCTION: The mitochondrial encephalomyopathy, lactic acidosis, and stroke (MELAS) syndrome is a mitochondrial disorder, commonly caused by m.3243A > G mutation in the MT-TL1 gene. It encodes for the mitochondrial leucine transfer RNA (tRNA Leu(UUR)), implicated in the translation of proteins involved in the assembly and function of mitochondrial complexes in the electron transport chain. The m.3243A>G mutation determines complex I (CI) deficiency, ultimately leading to NADH accumulation, higher rates of glycolysis in order to compensate for the reduced ATP production and increase in lactates, the end-product of glycolysis. Disruption of the oxidative phosphorylation function with an inability to produce sufficient energy results in multi-organ dysfunction, with high energy demanding cells, such as myocytes and neurons, being the most affected ones. Therefore MELAS syndrome is characterized by a heterogeneous clinical spectrum. Here we report on a case of a 55-year-old man affected by MELA syndrome with no cardiovascular risk factors. He was admitted to our department because of a non ST-segment elevation myocardial infarction (NSTEMI). A coronary angioplasty of the posterior descending artery and of the left anterior descending artery was realized. Transthoracic echocardiography showed inferior and anterior left ventricular wall hypokinesis together with a moderate left ventricle hypertrophy.
EVIDENCE ACQUISITION: Cardiac involvement is reported in about a third of the patients and left ventricular hypertrophy (LVH) is the most common phenotype, with possible dilated cardiomyopathy in end-stage disease; brady- arrhythmias and tachy-arrhythmias are also frequently reported as well as Wolff- Parkinson-White (WPW) syndrome. Organ impairment and clinical manifestations depend on the heteroplasmy level of mutant DNA in cells that can differ among individuals, explaining why some patients present a more severe disease.
EVIDENCE SYNTHESIS: A clear relationship between MELAS syndrome and atherosclerosis has never been established, however recently advocated. In vitro studies in MELAS patients have shown that higher mitochondrial ROS levels and increased expression of oxidative stress-related genes, as a consequence of complex I deficiency and disrupted electron transport, allow circulating LDL to be promptly oxidized into ox-LDL, contributing to endothelial dysfunction and
atherosclerosis plaque formation.
CONCLUSIONS: In light of the recent evidence suggesting a possible link between mitochondrial disorders and atherosclerosis, we speculate that MELAS syndrome may have played a role in the pathogenesis of coronary artery disease in our patient. Further investigations are needed to confirm a pathogenetic link.

KEY WORDS: MELAS Syndrome; Atherosclerosis; Acute myocardial infarction; Case Report; Review

inizio pagina