Send to:

Choose Destination
See comment in PubMed Commons below
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.

Author information

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


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.


Long QT Syndrome; Syndactyly

[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Korean Academy of Medical Sciences Icon for PubMed Central
    Loading ...
    Write to the Help Desk