Exploring digenic inheritance in arrhythmogenic cardiomyopathy

BMC Medical Genetics

13 Dicembre Dic 2017 one year ago
  • Casella M, Pompilio G, Sommariva E

Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. In this study we report genes that might act as digenic players in ACM pathogenesis, on the basis of co-segregation with PKP2 mutations. Validation in larger cohorts is still required to prove the utility of this model.

König E, Volpato CB, Motta BM, Blankenburg H, Picard A, Pramstaller P, Casella M, Rauhe W, Pompilio G, Meraviglia V, Domingues FS, Sommariva E, Rossini A. Exploring digenic inheritance in arrhythmogenic cardiomyopathy. BMC Med Genet 2017 Dec 8;18(1):145.

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