Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome
Journal of Korean Medical Science
;
: 788-791, 2013.
Artículo
en Inglés
| WPRIM
| ID: wpr-80565
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cirugía Plástica
/
Síndrome de QT Prolongado
/
Imagen por Resonancia Magnética
/
Muerte Súbita Cardíaca
/
Análisis de Secuencia de ADN
/
Sindactilia
/
Canales de Calcio Tipo L
/
Polimorfismo de Nucleótido Simple
/
Electroencefalografía
/
Anestesia
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2013
Tipo del documento:
Artículo
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