ArticleCardiovascular journal of Africa2013
Long QT syndrome in South Africa: the results of comprehensive genetic screening.
Article in Cardiovascular journal of Africa, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- A Systematic Review of the Spectrum of Cardiac Arrhythmias in Sub-Saharan Africa.Global heart · 2020Pooled it
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Sudden death in young South European population: a cross-sectional study of postmortem cases.Scientific reports · 2023Article
- Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.Human mutation · 2019Article
- Article
- Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.Molecular genetics & genomic medicine · 2017Article
- Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.Molecular diagnosis & therapy · 2016Article
- AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.Circulation. Cardiovascular genetics · 2014Article
- Article visibility: journal impact factor and availability of full text in PubMed Central and open access.Cardiovascular journal of Africa · 2013Article
- Sudden cardiac death in Africa.Cardiovascular journal of AfricaArticle
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening). Fourteen disease-causing mutations were identified, eight (including the founder mutation) in KCNQ1, five in KCNH2 and one in KCNE1. 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. Fivegene screening will most likely be even more informative in other South African sub-populations with a greater genetic diversity.
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