Timothy Syndrome and Torsades De Pointes in a Newborn - Case Report

Abstract

Timothy syndrome (TS) is a rare multisystem disease has a characterized association of long QT syndrome (LQTS) type-8 with the congenital cardiac and extracardiac malformations (neurological and dysmorphic facial features, syndactyly). It is caused by heterozygous mutations in the CACNA 1C gene, which participates in decoding the calcium channels. In this study, we describe a case of TS, which has systemic phenotypic characteristics associated with a long QT interval on the electrocardiogram.. The LQTS predisposes to a characteristic life-threatening ventricular arrhythmia known as Torsades de pointes or "twisting of the points". In this scenario, the authors describes the main clinical characteristics in a case of TS focusing on improve the ability of early diagnosis and better management of LTQS type-8.