Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block

  • Joo, Donghoon (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Lee, Hyoung Doo (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Kim, Taehong (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Ko, Hoon (Department of Pediatrics, Pusan National University Children's Hospital) ;
  • Byun, Joung-Hee (Department of Pediatrics, Pusan National University Children's Hospital)
  • Received : 2020.10.05
  • Accepted : 2020.10.22
  • Published : 2021.02.28
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Abstract

An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.

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References

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