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Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation

Attila Nemes1, Marcel L Geleijnse, Wim Sluiter

  • 1Department of Cardiology, Thorax Centre, Erasmus MC, Rotterdam, The Netherlands. nemes@in2nd.szote.u-szeged.hu

Swiss Medical Weekly
|February 24, 2009
PubMed
Abstract

Insights

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) patients exhibit increased aortic stiffness and larger aortic dimensions. Gene carriers showed intermediate aortic elastic properties compared to patients and controls.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Neurology

Background:

  • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder.
  • Vascular complications, particularly in the aorta, are increasingly recognized in MELAS.
  • This study investigates aortic elasticity in MELAS patients and gene carriers.

Purpose of the Study:

  • To assess ascending aortic elasticity in adult MELAS patients.
  • To evaluate aortic elastic properties in asymptomatic MELAS gene carriers.
  • To compare aortic dimensions and elasticity between MELAS patients, gene carriers, and healthy controls.

Main Methods:

  • Echocardiography was used to measure systolic and diastolic ascending aortic diameters.
  • Aortic elastic properties were calculated using aortic dimensions and forearm blood pressure.
  • Eight MELAS patients, four gene carriers, and age/gender-matched controls were included.

Main Results:

  • MELAS patients and gene carriers displayed enlarged ascending aortic diameters compared to controls.
  • Aortic stiffness index was significantly higher in MELAS patients (16.4±3.7) versus controls (3.6±1.1).
  • Aortic strain and distensibility were significantly reduced in MELAS patients compared to controls.

Conclusions:

  • MELAS syndrome is associated with increased ascending aortic stiffness.
  • Enlarged aortic dimensions suggest vascular remodeling in MELAS patients.
  • Gene carriers exhibit intermediate aortic elastic properties, indicating potential subclinical vascular changes.

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