BACKGROUND: Myotonic dystrophy type 1 (DM1) is a neurologic disorder with known cardiac involvement, including left ventricular systolic dysfunction (LVSD), heart failure (HF), atrioventricular and intraventricular conduction system disease, and sudden death. We studied the prevalence of these conditions and associated findings in a large population with DM1. METHODS: History, physical examination, genetic testing, and electrocardiography were performed on 406 patients with DM1, and cardiac imaging was performed on 180 (44.3%) of these patients. RESULTS: Left ventricular systolic dysfunction and clinical HF were found in 34 (18.9%) of 180 and in 23 (5.7%) of 406 of enrolled subjects, respectively, yielding an overall prevalence of LVSD/HF in 41 (10.1%) of 406. Increasing age, male sex, electrocardiographic conduction abnormalities, presence of atrial and ventricular arrhythmias, and implanted devices were all significantly associated with LVSD/HF, whereas cytosine-thiamine-guanine repeat length and neuromuscular severity score were not. The interval≥240 milliseconds (relative risk 4.1, 95% CI 1.7-9.6, P=.001) and QRS duration≥120 milliseconds (relative risk 4.2, 95% CI 2.0-8.5, P<.001) were significant predictors of LVSD/HF. The presence of LVSD/HF was also significantly associated with all-cause death (relative risk 3.9, 95% CI 2.3-6.4, P<.001) and cardiac death (relative risk 5.7, 95% CI 2.6-12.4, P<.001). CONCLUSIONS: A significant prevalence of LVSD/HF exists in patients with DM1. The presence of LVSD/HF in DM1 is significantly associated with all-cause and cardiac death.
BACKGROUND:Myotonic dystrophy type 1 (DM1) is a neurologic disorder with known cardiac involvement, including left ventricular systolic dysfunction (LVSD), heart failure (HF), atrioventricular and intraventricular conduction system disease, and sudden death. We studied the prevalence of these conditions and associated findings in a large population with DM1. METHODS: History, physical examination, genetic testing, and electrocardiography were performed on 406 patients with DM1, and cardiac imaging was performed on 180 (44.3%) of these patients. RESULTS:Left ventricular systolic dysfunction and clinical HF were found in 34 (18.9%) of 180 and in 23 (5.7%) of 406 of enrolled subjects, respectively, yielding an overall prevalence of LVSD/HF in 41 (10.1%) of 406. Increasing age, male sex, electrocardiographic conduction abnormalities, presence of atrial and ventricular arrhythmias, and implanted devices were all significantly associated with LVSD/HF, whereas cytosine-thiamine-guanine repeat length and neuromuscular severity score were not. The interval≥240 milliseconds (relative risk 4.1, 95% CI 1.7-9.6, P=.001) and QRS duration≥120 milliseconds (relative risk 4.2, 95% CI 2.0-8.5, P<.001) were significant predictors of LVSD/HF. The presence of LVSD/HF was also significantly associated with all-cause death (relative risk 3.9, 95% CI 2.3-6.4, P<.001) and cardiac death (relative risk 5.7, 95% CI 2.6-12.4, P<.001). CONCLUSIONS: A significant prevalence of LVSD/HF exists in patients with DM1. The presence of LVSD/HF in DM1 is significantly associated with all-cause and cardiac death.
Authors: Ellis Y Kim; David Y Barefield; Andy H Vo; Anthony M Gacita; Emma J Schuster; Eugene J Wyatt; Janel L Davis; Biqin Dong; Cheng Sun; Patrick Page; Lisa Dellefave-Castillo; Alexis Demonbreun; Hao F Zhang; Elizabeth M McNally Journal: JCI Insight Date: 2019-03-21
Authors: Chaitali Misra; Sushant Bangru; Feikai Lin; Kin Lam; Sara N Koenig; Ellen R Lubbers; Jamila Hedhli; Nathaniel P Murphy; Darren J Parker; Lawrence W Dobrucki; Thomas A Cooper; Emad Tajkhorshid; Peter J Mohler; Auinash Kalsotra Journal: Dev Cell Date: 2020-02-27 Impact factor: 12.270
Authors: Samuel T Carrell; Ellie M Carrell; David Auerbach; Sanjay K Pandey; C Frank Bennett; Robert T Dirksen; Charles A Thornton Journal: Hum Mol Genet Date: 2016-08-13 Impact factor: 6.150
Authors: Alexandre Gamet; Bruno Degand; François Le Gal; Nicolas Bidegain; Anne Delaubier; Brigitte Gilbert-Dussardier; Luc Christiaens; Rodrigue Garcia Journal: Ann Noninvasive Electrocardiol Date: 2018-08-12 Impact factor: 1.468
Authors: Mieke C E Hermans; Catharina G Faber; Sebastiaan C A M Bekkers; Christine E M de Die-Smulders; Monique M Gerrits; Ingemar S J Merkies; Gabriel Snoep; Yigal M Pinto; Simon Schalla Journal: J Cardiovasc Magn Reson Date: 2012-07-24 Impact factor: 5.364