Document Detail


Cardiac disease in myotonic dystrophy.
MedLine Citation:
PMID:  9059523     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M F Phillips; P S Harper
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Cardiovascular research     Volume:  33     ISSN:  0008-6363     ISO Abbreviation:  Cardiovasc. Res.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-03-28     Completed Date:  1997-03-28     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0077427     Medline TA:  Cardiovasc Res     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  13-22     Citation Subset:  IM    
Affiliation:
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
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MeSH Terms
Descriptor/Qualifier:
Arrhythmias, Cardiac / etiology*,  pathology,  physiopathology
Heart Conduction System / physiopathology
Humans
Myocardium / pathology
Myotonic Dystrophy / complications*,  pathology,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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