Key result
Two unrelated probands carrying the identical SCN5A frameshift mutation V1764fsX1786 exhibited distinct clinical manifestations (PCCD/Brugada syndrome and idiopathic ventricular fibrillation).
Case Report (n=2)
The identical SCN5A loss-of-function frameshift mutation V1764fsX1786 can result in highly variable phenotypic expressions, including Brugada syndrome, progressive cardiac conduction defect, and idiopathic ventricular fibrillation.
Phenotypic variability in SCN5A carriers cautions against deterministic predictions; leaves open modifier identification in inherited arrhythmias.
Loss‐of‐function mutations in the cardiac sodium channel α‐subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular fibrillation (IVF) (patient #2). Using a whole‐cell patch clamp technique, cells expressing V1764fsX1786 showed no observable Na+ current. Therefore, a significant phenotypic overlap was found between IVF and PCCD/Brugada syndrome in the 2 probands with the V1764fsX1786, loss‐of‐function frameshift mutation of the cardiac sodium channel gene SCN5A.
No takes yet. Share an insight, caveat, or question.
Kawakami et al. (2013) conducted a case report in Inherited arrhythmic syndromes (n=2). SCN5A frameshift mutation V1764fsX1786 was evaluated on Phenotypic expression and Na+ current. Two unrelated probands carrying the identical SCN5A frameshift mutation V1764fsX1786 exhibited distinct clinical manifestations (PCCD/Brugada syndrome and idiopathic ventricular fibrillation).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: