Summary

Sudden cardiac death (SCD) and sudden unexplained death (SUD) may have an underlying genetic cause. Current guidelines often recommend tiered genetic testing that begins with inherited arrhythmia (IA) genes and is followed by cardiomyopathy (CM) genes. Because these conditions share overlapping etiologies, broader testing may be more efficient. We reviewed genetic test results from 174 patients ³1 year of age with suspected SCD or SUD who underwent Blueprint Genetics’ comprehensive IA/CM next- generation sequencing panel. Key findings included the following:  

• In this cohort, 12% of patients received an informative result 

• Of these, 33% involved IA genes, 38% involved CM genes, and 29% involved genes associated with extracardiac features  

• Of patients whose ordering providers noted an absence of structural cardiac features, 5% had an informative result in a CM gene   

These results support comprehensive genetic testing after SCD/SUD, as informative results can guide management for at- risk family members and may determine whether extracardiac surveillance is indicated.  

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Authors:

Elvira Zilliacus, Julie Hathaway, Johanna Huusko, Saija Ahonen, Johanna Tommiska, Kimberly Gall, Khalida Liaquat, Victoria Howell, Allison Sluyters, Janica Djupsjöbacka, Mikko Muona, Inka Saarinen, Eija Seppälä, Tiia Kangas-Kontio, Lotta Koskinen, Pertteli Salmenperä, Samuel Myllykangas, Juha Koskenvuo

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