Titre
Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?
Type
article
Institution
Externe
Périodique
Auteur(s)
Bhuiyan, Z.A.
Auteure/Auteur
Al-Shahrani, S.
Auteure/Auteur
Al-Khadra, A.S.
Auteure/Auteur
Al-Ghamdi, S.
Auteure/Auteur
Al-Khalaf, K.
Auteure/Auteur
Mannens, M.M.
Auteure/Auteur
Wilde, A.A.
Auteure/Auteur
Momenah, T.S.
Auteure/Auteur
Liens vers les personnes
ISSN
1432-1971
Statut éditorial
Publié
Date de publication
2009-05
Volume
30
Numéro
4
Première page
490
Dernière page/numéro d’article
501
Peer-reviewed
Oui
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
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.
PID Serval
serval:BIB_B9773E001DAD
PMID
Date de création
2018-03-01T14:31:54.501Z
Date de création dans IRIS
2025-05-20T22:43:30Z