Abstract
Cardiomyopathy develops in >90% of Duchenne muscular dystrophy (DMD) patients by the second decade of life. We assessed the associations between DMD gene mutations, as well as Latent transforming growth factor-beta-binding protein 4 (LTBP4) haplotypes, and age at onset of myocardial dysfunction in DMD. DMD patients with baseline normal left ventricular systolic function and genotyping between 2004 and 2013 were included. Patients were grouped in multiple ways: specific DMD mutation domains, true loss-of-function mutations (group A) versus possible residual gene expression (group B), and LTBP4 haplotype. Age at onset of myocardial dysfunction was the first echocardiogram with an ejection fraction <55% and/or shortening fraction <28%. Of 101 DMD patients, 40 developed cardiomyopathy. There was no difference in age at onset of myocardial dysfunction among DMD genotype mutation domains (13.7±4.8 versus 14.3±1.0 versus 14.3±2.9 versus 13.8±2.5, p=0.97), groups A and B (14.4±2.8 versus 12.1±4.4, p=0.09), or LTBP4 haplotypes (14.5±3.2 versus 13.1±3.2 versus 11.0±2.8, p=0.18). DMD gene mutations involving the hinge 3 region, actin-binding domain, and exons 45-49, as well as the LTBP4 IAAM haplotype, were not associated with age of left...Continue Reading
References
Mar 1, 1978·American Heart Journal·S B HeymsfieldJ M Felner
Mar 7, 2002·Lancet·Alan E H Emery
Feb 5, 2003·Neuromuscular Disorders : NMD·K BushbyJ P Bourke
Feb 18, 2003·Cardiology·Josef Finsterer, Claudia Stöllberger
Mar 13, 2003·American Journal of Human Genetics·Kevin M FlaniganRobert B Weiss
Mar 16, 2005·Journal of the American College of Cardiology·Denis DubocHenri-Marc Bécane
Oct 26, 2005·Circulation·John L JefferiesJeffrey A Towbin
Jun 14, 2006·Muscle & Nerve·Annemieke Aartsma-RusJohan T Den Dunnen
Aug 28, 2007·American Heart Journal·Denis DubocHenri-Marc Bécane
Apr 26, 2008·Neuromuscular Disorders : NMD·Larry W MarkhamLinda H Cripe
Jun 3, 2008·American Heart Journal·David M ConnuckUNKNOWN Pediatric Cardiomyopathy Registry Study Group
Dec 25, 2009·Circulation. Cardiovascular Genetics·Rita Wen KasparFederica Montanaro
Jan 29, 2013·Journal of the American College of Cardiology·Gernot SchramPaul Khairy
Feb 27, 2013·Annals of Neurology·Kevin M FlaniganUNKNOWN United Dystrophinopathy Project
May 17, 2013·Muscle & Nerve·Craig M McDonaldUNKNOWN Cinrg Investigators
Jun 1, 2014·The American Journal of Cardiology·Mahi L AshwathRobert C Bahler
Dec 6, 2014·Journal of Neurology, Neurosurgery, and Psychiatry·Janneke C van den BergenPietro Spitali
Feb 3, 2015·Annals of Neurology·Luca BelloUNKNOWN Cooperative International Neuromuscular Research Group Investigators
Aug 12, 2015·Current Opinion in Neurology·Andy H Vo, Elizabeth M McNally
Dec 8, 2016·JAMA Cardiology·Marly Conceição SilvaCarlos Eduardo Rochitte
Citations
Oct 14, 2020·Pediatric Pulmonology·David J Birnkrant, John C Carter
May 24, 2021·Orphanet Journal of Rare Diseases·Shelagh M SzaboKatherine L Gooch
Aug 29, 2021·Pharmaceuticals·Carlos Pascual-MorenaVicente Martínez-Vizcaíno