|Title||Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.|
|Publication Type||Journal Article|
|Year of Publication||2016|
|Authors||Steele, HE, Harris, E, Barresi, R, Marsh, J, Beattie, A, Bourke, JP, Straub, V, Chinnery, PF|
|Date Published||2016 Sep 06|
|Keywords||Adolescent, Adult, Arrhythmias, Cardiac, Blotting, Western, Cohort Studies, Connectin, Electrocardiography, Female, Genetic Diseases, Inborn, Heart, Humans, Immunohistochemistry, Magnetic Resonance Imaging, Male, Middle Aged, Muscular Diseases, Mutation, Missense, Myocardium, Phenotype, Respiratory Insufficiency, Tomography, X-Ray Computed, Young Adult|
OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype.
METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT.
RESULTS: We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN missense mutation. Three were deceased. Cardiac conduction abnormalities were identified in 7/22 (32%): sustained atrioventricular tachycardia (n = 2), atrial fibrillation (n = 2), nonsustained atrial tachycardia (n = 1), premature supraventricular complexes (n = 1), and unexplained sinus bradycardia (n = 1). In addition, 4/22 (18%) had imaging evidence of otherwise unexplained cardiomyopathy. These findings are supported by histopathologic correlation suggestive of myocardial cytoskeletal remodeling.
CONCLUSIONS: Coexisting cardiac and skeletal muscle involvement is not uncommon in patients with HMERF arising due to the c.951434T>C; (p.Cys31712Arg) TTN mutation. All patients with pathogenic or putative pathogenic TTN mutations should be offered periodic cardiac surveillance.
|PubMed Central ID||PMC5027812|
|Grant List||G0601943 / / Medical Research Council / United Kingdom |
MC_UP_1501/2 / / Medical Research Council / United Kingdom
SP/05/001/18616 / / British Heart Foundation / United Kingdom