Why the study?
Cardiomyopathies and channelopathies are major causes of sudden cardiac death that can be difficult to diagnose during autopsy.
Bioinformatic analysis of genetic variants from autopsy cases of unexplained sudden death identified potentially pathogenic mutations in genes associated with channelopathies and cardiomyopathies.
Bioinformatic SCD variant predictions require functional validation; leaves open diagnostic use at autopsy.
Diseases of cardiovascular origin such as cardiomiopathies and channelopathes are the main causes of sudden cardiac death and in some cases are difficult to diagnose during autoposy. We present an in silico analysis using bioinformatic tools, for the analysis of possibly pathogenic variants in genes associated with sudden cardiac death. Algorithms were used to predict pathogenicity, predicting the impact of SNPs on proteins, genomic specificity andprotein-protein interaction. We found that variants in the KCNH2, ANK3, TTN, CAV3 and DSP genes cause structural alterations, molecular, cellular and interstitial changes in the heart that can trigger sudden death.
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Ariza et al. (2023) studied this question.
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