Key result
Novel SCN5A frameshift mutation linked to familial juvenile sick sinus syndrome with Brugada and VT.
Why the study?
Mutations in SCN5A cause various hereditary arrhythmias with overlapping phenotypes, but clinical variability within families remains unclear.
Case Report (n=2)
No
Identified a novel SCN5A mutation (F1775Lfs*15) causing overlapping phenotypes of juvenile sick sinus syndrome and Brugada syndrome, highlighting phenotypic variability within a family.
Answers are grounded in this paper and cite their sources.
May support SCN5A screening in familial sick sinus syndrome; leaves open variant pathogenicity and phenotypic spectrum.
Mutations in SCN5A have been reported to cause several types of hereditary arrhythmias (overlap syndrome). We herein report two patients with the overlapping phenotypes of juvenile sick sinus syndrome (SSS) and Brugada syndrome (BrS). The proband was a man who was in his twenties and had been diagnosed with both SSS and ventricular tachycardia (VT). A pilsicainide challenge test revealed a coved type ST segment elevation. His teenage brother also suffered from SSS, but no VT had been documented. A pilsicainide challenge failed to produce a Brugada-type ST elevation, but there was a marked prolongation of the His-ventricle interval. Their electrocardiograms at rest did not display any Brugada-type ST elevations. We identified a novel SCN5A (F1775Lfs*15) mutation in both patients, even though there was a phenotype discrepancy.
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Nakajima et al. (2013) conducted a case report in Familial Sick Sinus Syndrome (n=2). SCN5A mutation (F1775Lfs*15) was evaluated on Clinical phenotype and genetic mutation identification. A novel SCN5A frame shift mutation (F1775Lfs*15) was identified in two brothers with familial juvenile sick sinus syndrome who demonstrated varying clinical phenotypes including Brugada syndrome and ventricular tachycardia.
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