Document Detail

Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters.
MedLine Citation:
PMID:  18167567     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disorder of unknown cause that is characterised by fibrofatty replacement, primarily of the right ventricular myocardium, which can lead to life-threatening arrhythmias. It is a disease with a very diverse phenotype. In the present article we describe two sisters, each with a different manifestation of this disorder. The first patient died suddenly at the age of 18 during exercise. Her 17-year-old sister did not have any abnormalities at first cardiac consultation, but a few years later she met several diagnostic criteria for ARVC and an internal cardioverter defibrillator was implanted. Genetic analysis identified a mutation in the plakophilin- 2 (PKP2) gene. Cardiac evaluation of a third sister did not reveal any abnormalities and no mutation in the PKP2 gene was found. Thus, ARVC can vary in its clinical presentation, not only between siblings but also in time. This raises difficulties for the physician for diagnosis, treatment and followup. It is important for the physician involved to consider this disease in patients with palpitations and syncope, especially when there is a family history of ARVC or unexplained sudden death. (Neth Heart J 2007;15:348-53.).
L C Otterspoor; C L A Reichert; M J M Cramer; Z A Bhuiyan; A A M Wilde; R N W Hauer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation     Volume:  15     ISSN:  1568-5888     ISO Abbreviation:  Neth Heart J     Publication Date:  2007  
Date Detail:
Created Date:  2008-01-02     Completed Date:  2011-07-14     Revised Date:  2013-05-23    
Medline Journal Info:
Nlm Unique ID:  101095458     Medline TA:  Neth Heart J     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  348-53     Citation Subset:  -    
Department of Cardiology, Heart Lung Centre Utrecht, University Medical Centre, Utrecht, the Netherlands.
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