Comprehensive evaluation including genetic testing identified the cause of non-ischemic cardiac arrest in 56% of cases, and family cascade screening identified 28% of relatives at risk.
Cohort (n=465)
Comprehensive cardiological workup, autopsy, and genetic testing identified the cause of non-ischemic cardiac arrest in 56% of cases, and family cascade screening successfully identified 28% of relatives at risk.
Abstract Background We aimed to determine aetiology of non-ischemic cardiac arrest (CA) and the effectiveness of family cascade screening in a representative cohort in Czech Republic. Patients and Methods: In total 465 cases of non-ischemic CA (287 survivors, 178 victims, 292 males/173 females; the average age at CA 35±16 years, 51 individuals younger 16 years) were studied, detailed personal and family history obtained and family cascade screening offered. Molecular genetic analysis with next-generation targeted/exom sequencing performed. Results After comprehensive cardiological work up, autopsy and genetic analysis the cause of CA could be assessed in 262/465 (56%) cases, aetiology remained unknown in 203/465(44%) individuals. Genetic testing identified a causative DNA variant in 111/465 (24%). The most common genetic causes were P/LP DNA variants in the gene KCNH2 (15/111, 14%), followed by genes PKP2 (13/111, 12%), RYR2 (12/111, 11%), SCN5A (11/111, 10%) and TTN (11/111, 10%). Cardiomyopathy is the most prevalent final diagnosis in non-ischemic CA (60% of recognized diagnoses). Family cascade screening was performed in 1145 relatives (2,44 per CA case). The clinical diagnosis of inherited cardiovascular disease and/or risk genotype were identified in 320/1145 (28%) relatives. Those were offered individualized care, ICD implantation in primary prevention followed only in 3 cases. Conclusion Autopsy, cardiological work up and genetic testing revealed the probable cause of non-ischemic CA in 56%. Molecular genetic testing had a yield of 24% and contributed to identification of CM as the most frequent cause of CA in our cohort. Family cascade screening revealed29% relatives at risk and allowed possibly the primary prevention of CA in them.
Krebsova et al. (Mon,) conducted a cohort in Non-ischemic cardiac arrest (n=465). Comprehensive cardiological work up, autopsy, and genetic testing was evaluated on Identification of the cause of non-ischemic cardiac arrest. Comprehensive evaluation including genetic testing identified the cause of non-ischemic cardiac arrest in 56% of cases, and family cascade screening identified 28% of relatives at risk.
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