Timothy syndrome is a highly lethal genetic condition where early diagnosis based on syndactyly and QT prolongation is crucial, though management with beta-blockers and pacing may still be complicated by severe infections.
May support early CACNA1C testing in neonates with prolonged QT and arrest; leaves open phenotypic spectrum characterization.
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, [...]
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Nascimento et al. (2021) studied this question.
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