n Cardiovascular Journal of Africa - Long QT syndrome in South Africa : the results of comprehensive genetic screening : cardiovascular topic

Volume 24, Issue 6
  • ISSN : 1995-1892
  • E-ISSN: 1680-0745



Congenital long QT syndrome (cLQTS) is a genetic disorder predisposing to ventricular arrhythmia, syncope and sudden death. Over 700 different cLQTS-causing mutations in 13 genes are known. The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in ) was established by screening for mutations in the coding regions of and , the most frequently implicated cLQTS-causing genes (five-gene screening). Fourteen disease-causing mutations were identified, eight (including the founder mutation) in , five in and one in . Two mutations were novel. Two double heterozygotes were found among the 23 families (8.5%) carrying the founder mutation. In conclusion, cLQTS in South Africa reflects both a strong founder effect and a genetic spectrum similar to that seen in other populations. Consequently, five-gene screening should be offered as a standard screening option, as is the case internationally. This will disclose compound and double heterozygotes. Five-gene screening will most likely be even more informative in other South African sub-populations with a greater genetic diversity.

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