Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters.

Details

Serval ID
serval:BIB_FC4D551CCDC6
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters.
Journal
Netherlands heart journal
Author(s)
Otterspoor L.C., Reichert C.L., Cramer M.J., Bhuiyan Z.A., Wilde A.A., Hauer R.N.
ISSN
1568-5888 (Print)
ISSN-L
1568-5888
Publication state
Published
Issued date
2007
Peer-reviewed
Oui
Volume
15
Number
10
Pages
348-353
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.).

Keywords
cardiomyopathy, genetics, right ventricle, sudden death
Pubmed
Web of science
Create date
01/03/2018 16:33
Last modification date
20/08/2019 17:27
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