Left ventricular concentric hypertrophy and strain redirection in m.3243A>G mutation carriers: cardiomyopathy correlates with mutation load
نویسندگان
چکیده
K. G. Hollingsworth, G. S. Gorman, M. I. Trenell, R. McFarland, R. W. Taylor, D. M. Turnbull, G. A. MacGowan, P. F. Chinnery, and A. M. Blamire Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom, Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom, Department of Cardiology, Freeman Hospital, Newcastle upon Tyne, Tyne and Wear, United Kingdom, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom
منابع مشابه
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carri...
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BACKGROUND Tissues that depend on aerobic energy metabolism suffer most in diseases caused by mutations in mitochondrial DNA (mtDNA). Cardiac abnormalities have been described in many cases, but their frequency and clinical spectrum among patients with mtDNA mutations is unknown. METHODS Thirty-nine patients with the 3243A>G mtDNA mutation were examined, methods used included clinical evaluat...
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AIMS Hypertrophic remodelling and systolic dysfunction are common in patients with mitochondrial disease and independent predictors of morbidity and early mortality. Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement. METHODS AND RESULTS Cardiac m...
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BACKGROUND Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere mutations in DCM and investigate how these manifestations differ from sarcomere mutations...
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BACKGROUND Left ventricular hypertrophy (LVH) typically manifests during or after adolescence in sarcomere mutation carriers at risk for developing hypertrophic cardiomyopathy. Guidelines recommend serial imaging of mutation carriers without LVH (G+/LVH-) to monitor for phenotypic evolution, but the optimal strategy is undefined. Compared with echocardiography (echo), cardiac MRI (CMR) offers i...
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