Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy

• Published in: Journal of cardiovascular magnetic resonance Vol. 17; no. 1; p. 40
• Main Authors: Florian, Anca, Ludwig, Anna, Stubbe-Dräger, Bianca, Boentert, Matthias, Young, Peter, Waltenberger, Johannes, Rösch, Sabine, Sechtem, Udo, Yilmaz, Ali
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 22.05.2015; BioMed Central
• Subjects: Adult; Aged; Analysis; Arrhythmia; Cardiac patients; Cardiomyopathies - epidemiology; Cardiomyopathies - genetics; Cardiomyopathies - pathology; Cardiomyopathies - physiopathology; Care and treatment; Case-Control Studies; Diagnosis; Electrocardiogram; Electrocardiography; Epilepsy; Female; Genetic aspects; Genetic Predisposition to Disease; Germany - epidemiology; Humans; Hypertrophy, Left Ventricular - genetics; Hypertrophy, Left Ventricular - pathology; Hypertrophy, Left Ventricular - physiopathology; Kearns-Sayre Syndrome - genetics; Kearns-Sayre Syndrome - pathology; Magnetic Resonance Imaging; Male; MELAS Syndrome - genetics; MELAS Syndrome - pathology; MERRF Syndrome - genetics; MERRF Syndrome - pathology; Middle Aged; Mitochondrial Myopathies - epidemiology; Mitochondrial Myopathies - genetics; Mitochondrial Myopathies - pathology; Mitochondrial Myopathies - physiopathology; Myocardium - pathology; Ophthalmoplegia, Chronic Progressive External - genetics; Ophthalmoplegia, Chronic Progressive External - pathology; Phenotype; Physiological aspects; Predictive Value of Tests; Prevalence; Prospective Studies; Stroke Volume; Ventricular Function, Left; Ventricular Remodeling; Germany

Mitochondrial myopathies (MM) are a heterogeneous group of inherited conditions resulting from a primary defect in the mitochondrial respiratory chain with consecutively impaired cellular energy metabolism. Small sized studies using mainly electrocardiography (ECG) and echocardiography have revealed...