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Can J Cardiol. 2014 Jun;30(6):696.e1-3. doi: 10.1016/j.cjca.2014.01.014. Epub 2014 Jan 23.

Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.

Author information

1
Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada.
2
Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
3
Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada. Electronic address: z.laksman@mail.utoronto.ca.

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited cardiomyopathy that is transmitted in autosomal dominant and autosomal recessive forms and involves mutations in desmosomal and extradesmosomal genes. We present a case of arrhythmogenic right ventricular cardiomyopathy that cosegregates in a Lebanese family with a previously unreported desmocollin-2 mutation (c.712_714delGAT). We believe this newly described genetic variant displays autosomal recessive inheritance without the cutaneous manifestations expected in recessive genotypes, and represents the latest addition to the compendium of desmosomal mutations with pathogenic potential.

PMID:
24793512
DOI:
10.1016/j.cjca.2014.01.014
[Indexed for MEDLINE]

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