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Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies.1 Genetic testing can be essential in the follow-up of survivors and today ́s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopathy (HC). We present the case of a young survivor of SCA, carrier of double heterozygosity for mutations in the SNC5A and MYBPC3 genes, illustrating the complexity of genotype-phenotype associations and the difficulties of decisions regarding therapeutic interventions in inherited cardiac diseases.

Rare Association of two Genetic Causes of Sudden Death in a Young Survivor