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Article

Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular journal of Africa - 1 Jul 2013

Hedley Paula L, Durrheim Glenda A, Hendricks Firzana, Goosen Althea, Jespersgaard Cathrine, Støvring Birgitte, Pham Tam T, Christiansen Michael, Brink Paul A, Corfield Valerie A

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24217263
DOI: 10.5830/CVJA-2013-032
PMCID: PMC3772322

Genes

KCNQ1
KCNH2

Provenance

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