© 1997 by European Society of Cardiology
Copyright © 1997, European Society of Cardiology
Cardiac disease in myotonic dystrophy
Institute of Medical Genetics, University of Wales College of Medicine, Health Park, Cardiff, CF4 9AR, UK
Cardiac disease is a well-known complication of myotonic dystrophy, understanding of which has been increased by recent advances in both molecular techniques and cardiological investigations. Conduction disturbances and tachyarrhythmias occur commonly in myotonic dystrophy. These have been shown to have a broad correlation in severity with both neuromuscular disease and the extent of the molecular defect in some, but not all, studies. Clinical evidence of generalised cardiomyopathy is unusual. The rate of progression differs widely between individuals; sudden death may be caused by ventricular arrhythmias or complete heart block, and this can be at an early stage of disease. A familial tendency towards cardiac complications has been shown in some studies. The histopathology is of fibrosis, primarily in the conducting system and sino-atrial node, myocyte hypertrophy and fatty infiltration. Electron microscopy shows prominent I-bands and myofibrillar degeneration. Myotonin protein kinase, the primary product of the myotonic dystrophy gene, may be located at the intercalated discs and have a different isoform in cardiac tissue. The role of other genes or the normal myotonic dystrophy allele in myotonic heart disease has yet to be determined. Suggestions for clinical management include a careful cardiac history and a 12-lead ECG at least every year, with a low threshold for use of 24 h Holter monitoring. Extra care should be taken before, during and after general anaesthetics, which carry a high frequency of cardiorespiratory complications. Finally, myotonic dystrophy should be considered in previously undiagnosed patients presenting to a cardiologist or general physician with suspected arrhythmia or conduction block.
KEYWORDS Myotonic dystrophy; Myotonin protein kinase; Tachycardia; Arrhythmias; Conduction
* Corresponding author. Department of Medicine, University Clinical Departments, University of Liverpool, Liverpool L69 3BX, UK. Tel. (+44-151) 706 2000; fax (+44-151) 706 5802.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  P Cudia, P Bernasconi, R Chiodelli, F Mangiola, F Bellocci, A D. Russo, C Angelini, V Romeo, P Melacini, L Politano, et al. Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables J. Neurol. Neurosurg. Psychiatry, July 1, 2009; 80(7): 790 - 793. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. J. Groh, M. R. Groh, C. Saha, J. C. Kincaid, Z. Simmons, E. Ciafaloni, R. Pourmand, R. F. Otten, D. Bhakta, G. V. Nair, et al. Electrocardiographic Abnormalities and Sudden Death in Myotonic Dystrophy Type 1 N. Engl. J. Med., June 19, 2008; 358(25): 2688 - 2697. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. P.P. Smits, M. W. Veldkamp, and A. A.M. Wilde Mechanisms of inherited cardiac conduction disease Europace, January 1, 2005; 7(2): 122 - 137. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Roberts and A. J. Marian Can an energy-deficient heart grow bigger and stronger? J. Am. Coll. Cardiol., May 21, 2003; 41(10): 1783 - 1785. [Full Text] [PDF]
|
|
|
|
 |
|
 G Pelargonio, A D. Russo, T Sanna, G De Martino, and F Bellocci MYOTONIC DYSTROPHY AND THE HEART Heart, December 1, 2002; 88(6): 665 - 670. [Full Text] [PDF]
|
|
|
|
|
|
A. Lazarus, J. Varin, D. Babuty, F. Anselme, J. Coste, and D. Duboc Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: A multicenter diagnostic pacemaker study J. Am. Coll. Cardiol., November 6, 2002; 40(9): 1645 - 1652. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N R A Clarke, A D Kelion, J Nixon, D Hilton-Jones, and J C Forfar Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy? Heart, October 1, 2001; 86(4): 411 - 416. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Mathieu, P. Allard, L. Potvin, C. Prevost, and P. Begin A 10-year study of mortality in a cohort of patients with myotonic dystrophy Neurology, May 1, 1999; 52(8): 1658 - 1658. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Lazarus, J. Varin, Z. Ounnoughene, H. Radvanyi, C. Junien, J. Coste, P. Laforet, B. Eymard, H. M. Becane, S. Weber, et al. Relationships Among Electrophysiological Findings and Clinical Status, Heart Function, and Extent of DNA Mutation in Myotonic Dystrophy Circulation, March 2, 1999; 99(8): 1041 - 1046. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Mussini, D. Biral, O. Marin, S. Furlan, and S. Salvatori Myotonic Dystrophy Protein Kinase Expressed in Rat Cardiac Muscle Is Associated with Sarcoplasmic Reticulum and Gap Junctions J. Histochem. Cytochem., March 1, 1999; 47(3): 383 - 392. [Abstract] [Full Text]
|
|
|
|
 |
|
 A. V. Philips, L. T. Timchenko, and T. A. Cooper Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy Science, May 1, 1998; 280(5364): 737 - 741. [Abstract] [Full Text]
|
|