Why the study?
Mutated SCN5A has been reported in sick sinus syndrome, but homozygosity of SCN5A is exceedingly rare.
Identifies a novel homozygous SCN5A variant (p.Cys1850Arg) as a cause of severe sick sinus syndrome in children, expanding the genetic understanding of inherited arrhythmias.
Hypothesis-generating for SCN5A in familial SSS; extends variant spectrum but leaves clinical adoption open.
Sick sinus syndrome (SSS) is a group of disorders characterized by an abnormal cardiac impulse formation or propagation from the sinoatrial node. Mutated SCN5A has been reported in SSS, however, homozygosity of SCN5A is exceedingly rare. Here, we report a consanguineous family with four affected children with SSS. Symptomatic bradycardia necessitated implanting a pacemaker in all of them. Sequencing SCN5A revealed a novel homozygous variant (p.Cys1850Arg), which was predicted to interfere with protein folding. Our report describes the phenotype of a novel homozygous SCN5A variant and contributes to the compendium of molecular pathology of inherited arrhythmias in consanguineous populations.
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Alkorashy et al. (2020) studied this question.
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