title: Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.
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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Hyo Soon
authors.initials: HS
authors.lastname: An
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Choi
authors.forename: Bo Sang
authors.initials: BS
authors.lastname: Kwon
authors.forename: Gi Beom
authors.initials: GB
authors.lastname: Kim
authors.forename: Eun Jung
authors.initials: EJ
authors.lastname: Bae
authors.forename: Chung Il
authors.initials: CI
authors.lastname: Noh
authors.forename: Jung Yun
authors.initials: JY
authors.lastname: Choi
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D000758:Anesthesia / Q000009:adverse effects*; D001321:Autistic Disorder; D020746:Calcium Channels, L-Type / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D004569:Electroencephalography; D006801:Humans; D007223:Infant; D008133:Long QT Syndrome / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008738:Methyl Ethers / Q000009:adverse effects; D009569:Nitric Oxide / Q000009:adverse effects; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D000077149:Sevoflurane; D013518:Surgery, Plastic; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery
chemical_list: C079146:CACNA1C protein, human; D020746:Calcium Channels, L-Type; D008738:Methyl Ethers; D009569:Nitric Oxide; D000077149:Sevoflurane
keywords: Long QT Syndrome; Syndactyly