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

Introduction

Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies. 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.

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