Repository logo

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

Change log


Steele, Hannah E 
Harris, Elizabeth 
Barresi, Rita 
Marsh, Julie 
Beattie, Anna 


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.



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

Journal Title


Conference Name

Journal ISSN


Volume Title



Ovid Technologies (Wolters Kluwer Health)
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (101876/Z/13/Z, 096919Z/11/Z), Medical Research Council (UK) (G0601943), Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2).