Key result
A novel de novo calmodulin mutation was identified in a 6-year-old boy following an aborted cardiac arrest.
Case Report (n=1)
Reports a novel de novo calmodulin mutation in a pediatric patient presenting with aborted cardiac arrest, highlighting the role of genetic testing in unexplained sudden cardiac arrest in the young.
May prompt genetic testing after unexplained pediatric cardiac arrest; leaves open variant pathogenicity and management implications.
Mutations in the human calmodulin genes (CALM1, CALM2, and CALM3) are associated with life-threatening conditions in childhood, such as idiopathic ventricular fibrillation (VF) and long QT syndrome (LQTS).1–3 Furthermore, CALM1 mutations were described in a catecholaminergic polymorphic ventricular tachycardia (CPVT)-like phenotype.4 Sudden unexplained death in the young can be the first clinical manifestation of an underlying arrhythmogenic disorder such as idiopathic VF.5,6 After an aborted cardiac arrest, determining the diagnosis begins with a systematic clinical evaluation.
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Takahashi et al. (2016) conducted a case report in Aborted cardiac arrest (n=1). De novo calmodulin mutation was evaluated. A novel de novo calmodulin mutation was identified in a 6-year-old boy following an aborted cardiac arrest.
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