Novel plakophilin2 mutation. Three generation family with arrhythmogenic right ventricular cardiomyopathy
2012 (English)In: Scandinavian Cardiovascular Journal, ISSN 1401-7431, Vol. 46, no 2, 72-75 p.Article in journal (Refereed) Published
Objectives: The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC)has been linked to mutations in desmosomal proteins. Different studies have shown that amutation in plakophilin-2 (PKP 2) is a frequent genetic cause for ARVC. We describe a newmutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinicalconsequences.
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. However a relative carrying this mutation, with positive findings on endomyocardial biopsy had an otherwise normal phenotype, for 16 years, whereas a relative fulfilling the modified Task Force Criteria for ARVC turned out to be a non-carrier.
Conclusions: This shows the variable penetrance and phenotypic expression in ARVC and highlights the need of genetic testing as well as a thorough phenotype examination as a part of the investigations in ARVC pedigrees.
Place, publisher, year, edition, pages
Informa Healthcare, 2012. Vol. 46, no 2, 72-75 p.
National CategoryMedical and Health Sciences
IdentifiersURN: urn:nbn:se:liu:diva-70402DOI: 10.3109/14017431.2011.636068ISI: 000301496200002OAI: oai:DiVA.org:liu-70402DiVA: diva2:438972
Funding agencies|FORSS||Medical Research Council of Southeast Sweden| 12043 |Swedish Heart-Lung foundation| 20070864 |2011-09-062011-09-062012-04-20Bibliographically approved