Key result
A 30-month-old boy with syndactyly experienced sudden cardiac arrest during anesthesia and was diagnosed with Timothy syndrome (CACNA1C mutation), remaining free of recurrent cardiac arrest on beta-blocker therapy for 8 years.
Case Report (n=1)
No
This case highlights the importance of ECG monitoring in patients with syndactyly due to the rare but fatal association with Timothy syndrome (long QT syndrome type 8).
Alerts clinicians to Timothy syndrome risk in syndactyly before anesthesia; leaves open beta-blocker efficacy in this rare channelopathy.
Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. A 30-month-old boy had sudden cardiac arrest during anesthesia induction before plastic surgery for bilateral cutaneous syndactyly. After successful resuscitation, prolonged QT interval (QTc, 0.58-0.60 sec) and T-wave alternans were found in his electrocardiogram. Starting β-blocker to prevent further tachycardia and collapse event, then there were no more arrhythmic events. The genes KCNQ1, KCNH2, KCNE1 and 2, and SCN5A were negative for long QT syndrome. The mutation p.Gly406Arg was confirmed in CACNA1C, which maintains L-type calcium channel depolarization in the heart and other systems.
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An et al. (2013) conducted a case report in Timothy Syndrome (Long QT syndrome type 8) (n=1). Beta-blocker therapy was evaluated. A 30-month-old boy with syndactyly experienced sudden cardiac arrest during anesthesia and was diagnosed with Timothy syndrome (CACNA1C mutation), remaining free of recurrent cardiac arrest on beta-blocker therapy for 8 years.
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