Key result
The SCN5A R1193Q polymorphism was identified in seven carriers of a Chinese family, five of whom had progressive cardiac conduction defects and two had prolonged QTc.
Case Report
The SCN5A R1193Q polymorphism appears to be associated with progressive cardiac conduction defects and long QT syndrome in this Chinese pedigree.
May associate SCN5A R1193Q with conduction defects and QT prolongation in Chinese families; hypothesis-generating, leaves open validation before practice change.
Previous studies have demonstrated that the prevalence rate of R1193Q in SCN5A gene ranges from 0.2–12% and suggested this mutation may be a risk factor for long QT syndrome (LQTS).1 2 However, Chen et al showed no association between R1193Q and the disease process or electrocardiographic (ECG) abnormalities in a four generation Chinese family with cardiac conduction abnormalities and sudden death.1 We recently identified the R1193Q polymorphism by direct DNA sequencing of SCN5A in a four generation Han Chinese pedigree with progressive cardiac conduction defect (PCCD) and LQTS. Out of the seven R1193Q carriers, five (III-7, III-10, III-12, III-13, IV-5) were diagnosed as PCCD, and two (III-10, III-12) also had prolonged QTc; one carrier (III-1) had no PCCD but with borderline prolonged QTc; only the …
No takes yet. Share an insight, caveat, or question.
Sun et al. (2008) conducted a case report in Progressive cardiac conduction defect (PCCD) and long QT syndrome (LQTS). SCN5A R1193Q polymorphism was evaluated on Progressive cardiac conduction defect and prolonged QTc. The SCN5A R1193Q polymorphism was identified in seven carriers of a Chinese family, five of whom had progressive cardiac conduction defects and two had prolonged QTc.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: