International Journal of Cardiovascular Sciences. 16/Apr/2021;34(6):742-6.
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome
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, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death.
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