Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome

Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, affected, resulting in loss voltage-dependent 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 case female newborn who suffered cardiorespiratory arrest, secondary to arrhythmia. A prolonged interval, combined with 2:1 AV block, [...]