Introduction Congenital Long QT Syndrome (LQTS) is one of the main causes of sudden cardiac death (SCD) in the pediatric age group, with a prevalence of approximately one case for every 2,000 newborns. The most prevalent inheritance is dominant, with the typical phenotype associated with cardiac manifestations. The genetic alteration of LQTS is multigenic, with 17 main genes, and in 80% of the cases, it identifies: KCNQ1 (LQTL1), KCNH2 (LQTL2), and SCN5A (LQTL3). The LQTS type 2 (LQTS2) subtype alters […]

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, […]

Resumo Fundamento e objetivos: A cardiomiopatia cirrótica tem sido usada para descrever a disfunção cardíaca crônica em pacientes cirróticos sem doença cardíaca estrutural prévia. Além disso, o prolongamento do intervalo QT é uma das alterações cardíacas mais importantes relacionadas à cirrose. Estudos prévios sugerem que o prolongamento QT está associado com uma taxa de mortalidade mais alta em pacientes cirróticos. O objetivo deste estudo foi analisar intervalos QTs segundo a gravidade da cirrose, medida pela classificação Child-Plugh. Materiais e métodos: […]