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Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients.
MedLine Citation:
PMID:  20491895     Owner:  NLM     Status:  Publisher    
Background: Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystem disorder caused by CCTG repeat expansions within intron 1 of the ZNF9 gene on chromosome 3q. Cardiac conduction disturbances, supraventricular arrhythmias, and cardiomyopathy are described in DM2 but Brugada-like features have not yet been reported. Brugada syndrome (BS) is a genetically heterogeneous cardiac conduction disorder which is characterized by a significant ST-segment elevation upon ECG evaluations and bears an increased risk for sudden cardiac death. Case reports: We report two unrelated patients with genetically confirmed DM2 who developed clinical relevant cardiac arrhythmias with syncopal events from 35 (patient 1) and 47 years (patient 2). Brugada-like ECG findings were present in both patients. Family history was negative for BS, but the mothers of both index patients were also affected by DM2 and had different ventricular rhythm disturbances. SCN5A gene sequencing revealed an unknown genetic variant c.4140 C > A, p.N1380K, in patient 1, while no mutation was detected in patient 2. Discussion: Our observations may suggest that Brugada-like cardiac arrhythmias can occur in DM2, as this seems also to be the case in DM1. The chance association of two independent inherited disorders has to be considered and cannot be excluded in one of our patients. However, on statistical grounds, this possibility cannot explain all observed cases of DM with Brugada-like cardiac disease.
S Rudnik-Schöneborn; M Schaupp; A Lindner; W Kress; E Schulze-Bahr; S Zumhagen; M Elbracht; K Zerres
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-5-18
Journal Detail:
Title:  European journal of neurology : the official journal of the European Federation of Neurological Societies     Volume:  -     ISSN:  1468-1331     ISO Abbreviation:  -     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-5-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9506311     Medline TA:  Eur J Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Institute of Human Genetics, RWTH Aachen University, Medical Faculty, Aachen, Germany.
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