A bimonthly publication part of the Brazilian Society of Cardiology portfolio of journals connected with ABC Cardiol publishing national and international scientific production in the field of cardiovascular sciences.
ISSN 2359-4802
eISSN 2359-5647
Erivelton Nascimento
, Carollina Fernandes Tinoco
, Camila Diniz Silva
, Fabiana Ferreira Mitidieri Cortez
, Renato Kaufman
Erivelton Nascimento
, Carollina Fernandes Tinoco
, Camila Diniz Silva
, Fabiana Ferreira Mitidieri Cortez
, Renato Kaufman
Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, […]
Keywords: Long QT Syndrome; Syndactyly/genetics; Arrhythmias Cardiac/complications; Death Sudden; Child