Prevalence of Genetic Variants Associated with Sudden Cardiac Death in a Population Sample in Colombia

Cardiac channelopathies and cardiomyopathies are a group of cardiac disorders, they can be of both heritable and acquired genetic origin, which predispose affected individuals to sudden death as a result of changes in the expression or posttranslational modification of ion channels or alterations in associated proteins within the heart. 68 cases associated with sudden cardiac death were analyzed using the TruSightâ„¢Cardio sequencing panel, which contains 174 genes associated with heart disease. Variant filtering was performed taking into account the recommendations of ACC/AHA/ESC 2006, HRS/EHRA 2011 and HRS/EHRA/APHRS 2013. The study found a prevalence of cardiomyopathies of (40.6%), familial hypercholesterolemia with (5.4%), and cardiac channelopathies with (54%), in addition to the total of variants, 1.82% present conflict of interpretation of pathogenicity and 2.19% of uncertain significance, which should be studied in more detail in the future.

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Author: Joseph Alape Ariza