Title of article :
A rare association with suffered cardiac arrest, long QT interval, and syndactyly: Timothy syndrome (LQT-8)
Author/Authors :
Ergül, Yakup Mehmet Akif Ersoy Cardiovascular Training and Research Hospital - Clinics of Pediatric Cardiology, Turkey , Özyılmaz, İsa Mehmet Akif Ersoy Cardiovascular Training and Research Hospital - Clinics of Pediatric Cardiology, Turkey , Haydın, Sertaç Mehmet Akif Ersoy Cardiovascular Training and Research Hospital - Clinics of Pediatric Cardiovascular Surgery, Turkey , Güzeltaş, Alper Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital - Clinic of Pediatric Cardiology, Turkey , Tuzcu, Volkan İstanbul Medipol University Hospital - Pediatric and Genetic Arrhythmia Center, Turkey
Abstract :
Timothy 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) .TS is caused by mutations of the CACNA1C gene, which encodes L-type calcium channel Ca (V).
Journal title :
The Anatolian Journal of Cardiology: Andolu Kardiyoloji Dergisi
Journal title :
The Anatolian Journal of Cardiology: Andolu Kardiyoloji Dergisi
