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  • Title: Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.
    Author: Aneq MÅ, Fluur C, Rehnberg M, Söderkvist P, Engvall J, Nylander E, Gunnarsson C.
    Journal: Scand Cardiovasc J; 2012 Apr; 46(2):72-5. PubMed ID: 22035158.
    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.
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