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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study
Hannah E Steele1, Elizabeth Harris1, Rita Barresi1
1From the John Walton Muscular Dystrophy Research Centre (H.E.S., E.H., R.B., J.M., V.S.), Newcastle University; Department of Cardiology (A.B., J.P.B.), Freeman Hospital, NUTH NHS Foundation Trust; Medical Research Council Mitochondrial Biology Unit (P.F.C.); and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, University of Cambridge, UK.
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.
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