EVALUATING GENETIC POLYMORPHISMS IN SUDDEN CARDIAC ARREST SURVIVORS

Abstract

 Sudden cardiac arrest (SCA) remains a major public health concern, with survival rates under 10% despite improvements in emergency cardiovascular care. Genetic predispositions, particularly mutations in cardiac ion channel genes, are increasingly recognized as key contributors to SCA in the absence of structural heart disease. This study aimed to evaluate the frequency, type, and clinical relevance of genetic polymorphisms in survivors of SCA to identify potential biomarkers for risk stratification and targeted intervention.A total of 100 SCA survivors were enrolled and underwent detailed clinical profiling and genomic analysis. Peripheral blood samples were used for DNA extraction, and whole-exome sequencing was performed focusing on five arrhythmia-associated genes: SCN5A, KCNQ1, KCNH2, RYR2, and DSC2. Variant classification included analysis of type (missense, nonsense, etc.) and pathogenicity using in silico tools. By the way, along with recording survival, age, sex, and family history, an ECG was also used to look at the QT interval.  Out of all five genes, SCN5A was mutated most often (25%), followed by KCNQ1 (24%) and KCNH2 (20%).  Having these mutations leads to a longer duration in the QT interval.  Almost all survivors (96%) had an SCN5A mutation, while 90% of non-survivors had a KCNQ1 mutation.  The majority of people with a SCN5A or DSC2 mutation have a family history of the condition.  Researchers stress that some genetic variations are highly associated with the outcomes of SCA.  It is clear from these findings that precision medicine lowers sudden heart deaths and should be a routine part of cardiac risk exams.  To confirm the link between the correlations and to improve genetic risk models, major research studies are needed for the future.