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ABSTRACT: 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%). Path
SUBMITTER: Stoevesandt D
PROVIDER: S-EPMC11812182 | biostudies-literature | 2025 Feb
REPOSITORIES: biostudies-literature