BACKROUND: Cardiac involvement has been reported in different mitochondrial geno- and phenotypes, including mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome. However, cardiac manifestations are diverse and not well described. METHODS: We prospectively examined cardiac manifestations in 11 adult patients with MELAS syndrome harboring the MTTL1 m.3243A <
G-mutation using patient records, cardiac MRI (1.5 Tesla), echocardiography, electrocardiogram (ECG), laboratory tests of cardiac markers (CK, CK-MB, Trop I, BNP), and clinical severity (NMDAS = Newcastle Mitochondrial Disease Scale). RESULTS: Among 11 consecutive patients with MELAS syndrome (73% male, mean age 37.5 ± 10.6 years) cardiac manifestations were found in nine (82%). Pathology was mainly detected using MRI (9 of 11, 82%). Six patients showed diffuse late enhancement in the left ventricle, one a left ventricular ejection fraction (LVEF) below 30%, two with a LVEF in the range of 40-50% in the cardiac MRI, and another five patients presenting diastolic dysfunction as defined by echocardiography. Only one patient with late enhancement on MRI also showed a conduction block in the ECG. There was no correlation between the cardiac manifestations and the NMDAS score or heteroplasmy grade. CONCLUSIONS: Cardiac involvement in MELAS syndrome harboring the MTTL1 m.3243A >
G mutation mostly entails cardiomyopathy, which was particularly evident in the cardiac MRI. Only one patient (1/11, 9.1%) had conduction defects. Thus, cardiac testing including cardiac MRI, echocardiography and ECG seems to be important for prognosis of MELAS patients.