Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome

• Autor(a) principal: Nascimento,Erivelton
• Data de Publicação: 2021
• Outros Autores: Tinoco,Carollina Fernandes, Silva,Camila Diniz, Cortez,Fabiana Ferreira Mitidieri, Kaufman,Renato
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: International Journal of Cardiovascular Sciences (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472021005004202
• topic: Long QT Syndrome; Syndactyly/genetics; Arrhythmias Cardiac/complications; Death Sudden; Child

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.