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

Basil Al-Sabeq; Andrew D Krahn; Susan Conacher; George J Klein; Zachary Laksman

doi:10.1016/j.cjca.2014.01.014

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

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

Authors

Basil Al-Sabeq¹, Andrew D Krahn², Susan Conacher¹, George J Klein¹, Zachary Laksman³

Affiliations

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.

PMID: 24793512
DOI: 10.1016/j.cjca.2014.01.014

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.

Publication types

Case Reports

MeSH terms

Arrhythmogenic Right Ventricular Dysplasia / genetics*
Arrhythmogenic Right Ventricular Dysplasia / therapy
Child
Defibrillators, Implantable
Desmocollins / genetics*
Exons
Female
Genes, Recessive
Homozygote
Humans
Lebanon
Pedigree
Sequence Deletion*

Substances

DSC2 protein, human
Desmocollins