Key result
Genomic analysis of a 43-year-old man with aborted sudden cardiac death identified variants in MYPN, GCKR, TTN, SCN5A, MYO6, and ELN genes that may be associated with primary ventricular fibrillation.
Why the study?
Ventricular arrhythmias are the primary cause of sudden cardiac death, and genomic variants predisposing individuals to sudden death require further identification.
Case Report (n=1)
No
Genomic screening in a patient with aborted sudden cardiac death identified multiple genetic variants, including a pathogenic MYPN mutation, highlighting the potential additive effect of genetic variants in arrhythmogenic diseases.
Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pathogenic, and variants of uncertain significance that may predispose individuals to cardiac causes of sudden death. In this study, we describe the case of a 43-year-old individual who experienced an episode of aborted SCD. An implantable cardioverter defibrillator was placed to prevent further SCD episodes. The diagnosis was ventricular fibrillation. Genomic analysis revealed some variants in the MYPN (pathogenic), GCKR (likely pathogenic), TTN (variant of uncertain significance), SCN5A (variant of uncertain significance), MYO6 (variant of uncertain significance), and ELN (variant of uncertain significance) genes, which could be associated with SCD episodes. In addition, a protein-protein interaction network was obtained, with proteins related to ventricular arrhythmia and the biological processes involved. Therefore, this study identified genetic variants that may be associated with and trigger SCD in the individual. Moreover, genetic variants of uncertain significance, which have not been reported, could contribute to the genetic basis of the disease. Cardiol Res. 2023;14(5):409-415 doi: https://doi.org/10.14740/cr1552
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Paz‐Cruz et al. (2023) conducted a case report in Ventricular fibrillation and aborted sudden cardiac death (n=1). Genetic variants (MYPN, GCKR, TTN, SCN5A, MYO6, ELN) was evaluated on Identification of genetic variants associated with sudden cardiac death. Genomic analysis of a 43-year-old man with aborted sudden cardiac death identified variants in MYPN, GCKR, TTN, SCN5A, MYO6, and ELN genes that may be associated with primary ventricular fibrillation.
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