title: Arrhythmogenic right ventricular cardiomyopathy with recessive inheritance related to a new homozygous desmocollin-2 mutation.
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.
authors.affiliation: Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada.
authors.forename: Basil
authors.initials: B
authors.lastname: Al-Sabeq
authors.affiliation: Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Krahn
authors.affiliation: Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada.
authors.forename: Susan
authors.initials: S
authors.lastname: Conacher
authors.affiliation: Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada.
authors.forename: George J
authors.initials: GJ
authors.lastname: Klein
authors.affiliation: Division of Cardiology, Department of Medicine, University of Western Ontario, London, Ontario, Canada. Electronic address: z.laksman@mail.utoronto.ca.
authors.forename: Zachary
authors.initials: Z
authors.lastname: Laksman
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics* / Q000628:therapy; D002648:Child; D017147:Defibrillators, Implantable; D051187:Desmocollins / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: C081561:DSC2 protein, human; D051187:Desmocollins