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J Korean Med Sci. 2013 May;28(5):788-91. doi: 10.3346/jkms.2013.28.5.788. Epub 2013 May 2.

Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.

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  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

Abstract

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.

KEYWORDS:

Long QT Syndrome; Syndactyly

PMID:
23678275
[PubMed - indexed for MEDLINE]
PMCID:
PMC3653096
Free PMC Article
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