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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: Are they different?
Pediatric Cardiology, Volume 30, No. 4, Year 2009
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Description
Congenital long QT syndrome (LQTS) is an inherited cardiac arrhythmia disorder characterized by prolongation of the QT interval; patients are predisposed to ventricular tachyarrhythmias and fibrillation leading to recurrent syncope or sudden cardiac death. We performed clinical and genetic studies in six Saudi Arabian families with a history of sudden unexplained death of children. Clinical symptoms, ECG phenotypes, and genetic findings led to the diagnosis of LQT1 in two families (recessive) and LQT2 in four families (three recessive and one dominant). Onset of arrhythmia was more severe in the recessive carriers and occurred during early childhood in all recessive LQT1 patients. Arrhythmia originated at the intrauterine stages of life in the recessive LQT2 patients. LQT1, causing mutation c.387-5 T > A in the KCNQ1 gene, and LQT2, causing mutation c.3208 C > T in the KCNH2 gene, are presumably founder mutations in the Assir province of Saudi Arabia. Further, all LQTS causing mutations detected in this study are novel and have not been reported in other populations. © 2009 Springer Science+Business Media, LLC.
Authors & Co-Authors
Bhuiyan, Zahurul Alam
Netherlands, Amsterdam
Universiteit Van Amsterdam
Al-Shahrani, Safar
Saudi Arabia, Riyadh
Riyadh Military Hospital
Al-Khadra, Ayman
Saudi Arabia, Riyadh
Prince Sultan Cardiac Center
Al-Ghamdi, Saleh S.
Saudi Arabia, Riyadh
Prince Sultan Cardiac Center
Al Khalaf, Khalaf
Saudi Arabia, Riyadh
Prince Sultan Cardiac Center
Mannens, Marcel M.A.M.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Wilde, Arthur A.M.
Netherlands, Amsterdam
Universiteit Van Amsterdam
Momenah, Tarek
Saudi Arabia, Riyadh
Prince Sultan Cardiac Center
Statistics
Citations: 13
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1007/s00246-008-9377-y
ISSN:
01720643
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Noncommunicable Diseases