Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

TitleCardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
Publication TypeJournal Article
Year of Publication2016
AuthorsSteele, HE, Harris, E, Barresi, R, Marsh, J, Beattie, A, Bourke, JP, Straub, V, Chinnery, PF
JournalNeurology
Volume87
Issue10
Pagination1031-5
Date Published2016 Sep 06
ISSN1526-632X
KeywordsAdolescent, 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
Abstract

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.

DOI10.1212/WNL.0000000000003064
Alternate JournalNeurology
Citation Key10.1212/WNL.0000000000003064
PubMed ID27511179
PubMed Central IDPMC5027812
Grant ListG0601943 / / Medical Research Council / United Kingdom
MC_UP_1501/2 / / Medical Research Council / United Kingdom
SP/05/001/18616 / / British Heart Foundation / United Kingdom