A rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8)

Basit Öğe Kaydı
dc.authorid0000-0001-9008-4997
dc.contributor.authorErgül, Yakup
dc.contributor.authorÖzyılmaz, İsa
dc.contributor.authorHaydın, Sertaç
dc.contributor.authorGüzeltaş, Alper
dc.contributor.authorTuzcu, Volkan
dc.date.accessioned10.07.201910:49:13
dc.date.accessioned2019-07-10T19:36:05Z
dc.date.available10.07.201910:49:14
dc.date.available2019-07-10T19:36:05Z
dc.date.issued2015
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractTimothy syndrome (TS), also referred to as syndactylyassociated long QT syndrome (LQTS) or LQT8, is a multi-system disorder characterized by developmental defects causing dysmorphic facial features, congenital heart abnormalities, neurocognitive impairment, and webbing of the toes and fingers (syndactyly) (1). TS is caused by mutations of the CACNA1C gene, which encodes L-type calcium channel Ca (V) 1.2. Two types of TS have been defined according to the mutation sites: G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2). These gain-offunction mutations result in an impaired open-state and voltagedependent inactivation of the L-type calcium channel, ultimately 672 Case Reports Anatol J Cardiol 2015; 15: 671-4 leading to a markedly prolonged myocardial action potential (delayed ventricular repolarization) (1-4).
dc.identifier.citationErgül, Y., Özyılmaz, İ., Haydın, S., Güzeltaş, A. ve Tuzcu, V. (2015). A rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8).Anatolian Journal of Cardiology, 15(8), 672-674. https://dx.doi.org/10.5152/AnatolJCardiol.2015.6315
dc.identifier.doi10.5152/AnatolJCardiol.2015.6315
dc.identifier.endpage674
dc.identifier.issn1302-8723
dc.identifier.issn2149-2271
dc.identifier.issue8
dc.identifier.scopusqualityN/A
dc.identifier.startpage672
dc.identifier.urihttps://hdl.handle.net/20.500.12511/1055
dc.identifier.urihttps://dx.doi.org/10.5152/AnatolJCardiol.2015.6315
dc.identifier.volume15
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTurkish Society of Cardiology
dc.relation.ispartofAnatolian Journal of Cardiologyen_US
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTimothy Syndrome
dc.subjectSuffered Cardiac
dc.subjectSyndactyly
dc.titleA rare association with suffered cardiac arrest, long qt interval, and syndactyly: Timothy syndrome (LQT-8)
dc.typeOther

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