Kari L. Turkowski1, David J. Tester2,3, J. Martijn Bos2,4, Kristina H. Haugaa5, Michael J. Ackerman2,3,4
Congenital Heart Disease, Vol.12, No.2, pp. 226-235, 2017, DOI:10.1111/chd.12462
Abstract Background: Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and
accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most
often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half
of all ACM, the remainder is elusive genetically.
Objective: Here, whole exome sequencing (WES) was performed with genomic triangulation in an
effort to identify a novel explanation for a phenotype-positive, genotype-negative multigenerational pedigree with… More >
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