Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

Abstract

Introduction: Hereditary heart diseases are a set of major prevalence diseases that are associated with risk of sudden death. These diseases affect with high frequency young individuals and whose genetic basis has been known in recent years. More than 100 genes are involved in these diseases. The emergence of next-generation sequencing is enabling a greater understanding of the genes involved, despite this, in a significant number of patients it is not detected the associated genetic defect.