Table 1

Results of genetic and cardiac analyses in patients with MELAS

CaseSexAge at final examination (years)mtDNA mutationECG findingsUCG diagnosis
1F233243Intermittent WPW; inverted T wave in II, III, aVF, V5, V6; HCM
2F22  (lost)3243Inverted T wave in III, V6HCM→DCM
3M213243WPWHCM→DCM
4M63243WPWNormal
5M83243Flat T wave in V5-V6Normal
6M73243ST-T down slope at first, then normalisedInitially LV dilatation; during follow up, normal size
7M153471NormalNot done
8M223243Inverted T wave in aVLNormal
9F113243NormalNot done
10M17 (lost)3243Inverted T wave in II, III, aVF, V5, V6Normal
11M133243PVCNormal
  • DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; LV, left ventricle; mtDNA, mitochondrial DNA; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; PVC, premature ventricular contractions; UCG, ultrasound cardiogram; WPW, Wolff-Parkinson-White syndrome.