Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome

Autor:	Nascimento, Erivelton, Tinoco, Carollina Fernandes, Silva, Camila Diniz, Cortez, Fabiana Ferreira Mitidieri, Kaufman, Renato
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Long QT Syndrome Syndactyly/genetics Death Sudden Arrhythmias Cardiac/complications Child
Zdroj:	International Journal of Cardiovascular Sciences n.ahead 2021 International Journal of Cardiovascular Sciences Sociedade Brasileira de Cardiologia (SBC) instacron:SBC International Journal of Cardiovascular Sciences, Issue: ahead, Published: 30 APR 2021 International Journal of Cardiovascular Sciences, Volume: 34, Issue: 6, Pages: 743-746, Published: 30 APR 2021
Popis:	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.
Databáze:	OpenAIRE
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