title: Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
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.
  
  
  METHODS
  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.
authors: From 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.
authors: Hannah E
authors: HE
authors: Steele
authors: From 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.
authors: Elizabeth
authors: E
authors: Harris
authors: From 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.
authors: Rita
authors: R
authors: Barresi
authors: From 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.
authors: Julie
authors: J
authors: Marsh
authors: From 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.
authors: Anna
authors: A
authors: Beattie
authors: From 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.
authors: John P
authors: JP
authors: Bourke
authors: From 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.
authors: Volker
authors: V
authors: Straub
authors: From 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. pfc25@medschl.cam.ac.uk.
authors: Patrick F
authors: PF
authors: Chinnery
mesh_terms: D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D015153:Blotting, Western; D015331:Cohort Studies; D064211:Connectin / Q000235:genetics; D004562:Electrocardiography; D005260:Female; D030342:Genetic Diseases, Inborn / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D006321:Heart / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology; D010641:Phenotype; D012131:Respiratory Insufficiency / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D064211:Connectin; C577285:TTN protein, human