Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome.
10.3346/jkms.2013.28.5.788
- Author:
Hyo Soon AN
1
;
Eun Young CHOI
;
Bo Sang KWON
;
Gi Beom KIM
;
Eun Jung BAE
;
Chung Il NOH
;
Jung Yun CHOI
;
Sung Sup PARK
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. eunjbaek@snu.ac.kr
- Publication Type:Case Reports
- Keywords:
Long QT Syndrome;
Syndactyly
- MeSH:
Anesthesia/*adverse effects;
Calcium Channels, L-Type/*genetics;
Death, Sudden, Cardiac/*etiology;
Electroencephalography;
Humans;
Infant;
Long QT Syndrome/*genetics;
Magnetic Resonance Imaging;
Male;
Methyl Ethers/adverse effects;
Nitric Oxide/adverse effects;
Polymorphism, Single Nucleotide;
Sequence Analysis, DNA;
Surgery, Plastic;
Syndactyly/diagnosis/*genetics/surgery
- From:Journal of Korean Medical Science
2013;28(5):788-791
- CountryRepublic of Korea
- Language:English
-
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 beta-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.
