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Scand Cardiovasc J. 2012 Apr;46(2):72-5. doi: 10.3109/14017431.2011.636068. Epub 2011 Dec 8.

Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.

Author information

1
Department of Medical and Health Sciences, Division of Clinical Physiology, Faculty of Health Sciences, Linköping University, Linköping, Sweden. meriam.astrom.aneq@lio.se

Abstract

OBJECTIVES:

The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to mutations in desmosomal proteins. A mutation in plakophilin 2 (PKP 2) is a frequent cause for ARVC. We describe a new mutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinical consequences.

DESIGN:

Individuals in a three-generation family were investigated after the sudden cardiac death of a young male. Clinical evaluation, electrocardiography, echocardiography, magnetic resonance imaging, endomyocardial biopsy and genetic testing were performed.

RESULTS:

A novel heterozygote mutation, a c.368G > A transition, located in exon 3 of the PKP2 gene was found (p.Trp123X). The phenotype was characterized by arrhythmia at an early age in some individuals, with mild abnormalities on imaging.

CONCLUSIONS:

This new plakophilin mutation demonstrates variable penetrance and phenotypic expression in ARVC, and highlights the need of genetic testing and thorough phenotype examination in ARVC pedigrees.

PMID:
22035158
DOI:
10.3109/14017431.2011.636068
[Indexed for MEDLINE]

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