Cardiac hereditary diseases: genetic insights from a single center 15-year experience

Abstract Funding Acknowledgements Type of funding sources: None. Background In the last decades, implementation high-throughput next-generation (NGS) technologies has profoundly changed landscape human genome sequencing. However, molecular diagnosis in cardiac hereditary diseases is still hampered by incomplete penetrance, variable expressivity, and genetic heterogeneity diseases. Objective We report our 15-year experience on a cohort consecutive patients (pts) with suspicion disease referred to specialized cardiogenetic outpatient clinic center. Methods retrospectively reviewed DNA sequencing results pts center from July 1st 2007 through December 31st 2021, who were tested NGS for suspected including channelopathies, inherited cardiomyopathies unexplained sudden death. Results Among 488 pts, most frequent clinical indication presymptomatic screening (37.3%) known familial variant, followed arrhythmic syndrome (28.3%) cardiomyopathy (26.8%). A likely pathogenic/pathogenic variant was found 198 an overall diagnostic yield 40.6% 23.6% considering only index cases. The rate identified mutation-carriers higher among (45.8%) than syndromes (37%). Panel B display distribution respectively. particular, highest observed hypertrophic (60.7%) catecholaminergic polymorphic ventricular tachycardia (50%), congenital long QT (48.6%). pathogenic variants mainly genes definitive scientific evidence causal association disease. Conclusions demonstrated pivotal role analysis confirmation and, hence therapeutic management