Abstract
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, [...]
Highlights
IntroductionTimothy Syndrome (TS) or LQTS8, is a very rare multisystem genetic condition (incidence: 1.5/108)[1], first reported in 1992.2 The inheritance pattern is autosomal dominant,[3] and it is caused by a de novo missense mutation in exon 8A.4 TS type 2 stems from a missense mutation on an alternatively spliced exon 8, with different phenotypical expression, which will not be addressed in this work
Timothy Syndrome (TS) or LQTS8, is a very rare multisystem genetic condition[1], first reported in 1992.2 The inheritance pattern is autosomal dominant,[3] and it is caused by a de novo missense mutation in exon 8A.4
TS type 2 stems from a missense mutation on an alternatively spliced exon 8, with different phenotypical expression, which will not be addressed in this work
Summary
Timothy Syndrome (TS) or LQTS8, is a very rare multisystem genetic condition (incidence: 1.5/108)[1], first reported in 1992.2 The inheritance pattern is autosomal dominant,[3] and it is caused by a de novo missense mutation in exon 8A.4 TS type 2 stems from a missense mutation on an alternatively spliced exon 8, with different phenotypical expression, which will not be addressed in this work. Timothy Syndrome (TS) or LQTS8, is a very rare multisystem genetic condition (incidence: 1.5/108)[1], first reported in 1992.2 The inheritance pattern is autosomal dominant,[3] and it is caused by a de novo missense mutation in exon 8A.4. TS type 2 stems from a missense mutation on an alternatively spliced exon 8, with different phenotypical expression, which will not be addressed in this work. Long QT Syndrome; Syndactyly/genetics; Arrhythmias Cardiac/complications; Death Sudden; Child. Characterized by high mortality, and an average age of death at 2.5 years, TS represents a diagnostic challenge.[5] Mortality in TS is considered multifactorial and sudden cardiac death is the main cause of death.[6] The most reliable clinical evidence available on the subject is level 4,7 i. The most reliable clinical evidence available on the subject is level 4,7 i. e. case series
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