الفهرس | Only 14 pages are availabe for public view |
Abstract Background: Cardiomyopathies are the most common myocardial diseases resulting in heart failure and sudden death in the young. These diseases are genetically diverse with a huge number of identified mutations, providing a high incentive to identify and sequence disease related genes in affected individuals to identify pathogenic variants. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Aim of the work: The current study aimed at identifying the mutation spectrum of cardiomyopathy related genes among Egyptian pediatric patients with primary cardiomyopathy. Subjects and methods: Targeted enrichment next generation sequencing of 174 genes associated with 17 different inherited cardiac conditions was done for 40 Egyptian pediatric patients diagnosed with primary cardiomyopathy (24 patients presenting with hypertrophic cardiomyopathy and 16 patients presenting with left ventricular noncompaction) |