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Peer-reviewedCC BYThe Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology

Extracorporeal membrane oxygenation for refractory arrhythmia in a neonate carrying an SCN5A variant: a case report.

  • Chen Yixian1
  • Gan Yuan1
  • Zhang Senxiong1
  • Lei Xianqiang1
  • Jiang Yongjiang1
  • Tang Mingyun1
  • Liu Yunzhi1
  • Lv Yanxing1
  • Wei Yijun2
  1. 1Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China.
  2. 2Liuzhou Hospital of Guangzhou Women and Children's Medical Center, Liuzhou, China. [email protected].
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Abstract

Background

Neonatal malignant arrhythmias refractory to conventional antiarrhythmic therapy are life-threatening and pose a major therapeutic challenge, particularly in premature infants.Case presentation

We report a premature infant born at 36 + 2 weeks of gestation who developed ventricular tachycardia and cardiac arrest following resuscitation for perinatal asphyxia. As lidocaine and amiodarone failed to control the rhythm, veno‑arterial ECMO was initiated shortly thereafter. After ECMO support, the rhythm converted to sinus and cardiac function improved, allowing successful weaning. Electrocardiography subsequently revealed a prolonged QT interval, which responded to oral mexiletine. Whole‑exome sequencing identified a heterozygous SCN5A c.1960G > A (p.Glu654Lys) variant inherited from the father, classified as a variant of uncertain significance (VUS).Conclusions

This case suggests that this specific VUS may be a candidate pathogenic variant, and that early ECMO can be an effective salvage therapy when conventional drugs fail. Additionally, when genetic testing yields a VUS, the clinical phenotype and treatment response appear valuable for assessing pathogenicity in neonatal cases.

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Cite

BibTeXRIS
BibTeX
@article{yixian2026extracorporeal,
  title = {{Extracorporeal membrane oxygenation for refractory arrhythmia in a neonate carrying an SCN5A variant: a case report.}},
  author = {Chen Yixian and Gan Yuan and Zhang Senxiong and Lei Xianqiang and Jiang Yongjiang and Tang Mingyun and Liu Yunzhi and Lv Yanxing and Wei Yijun},
  journal = {The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology},
  year = {2026},
  month = oct,
  doi = {10.1186/s43044-026-00791-y},
  url = {https://europepmc.org/article/MED/42963515},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Extracorporeal membrane oxygenation for refractory arrhythmia in a neonate carrying an SCN5A variant: a case report.
AU  - Chen Yixian
AU  - Gan Yuan
AU  - Zhang Senxiong
AU  - Lei Xianqiang
AU  - Jiang Yongjiang
AU  - Tang Mingyun
AU  - Liu Yunzhi
AU  - Lv Yanxing
AU  - Wei Yijun
PY  - 2026
DA  - 2026/10/30
JO  - The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
DO  - 10.1186/s43044-026-00791-y
UR  - https://europepmc.org/article/MED/42963515
AB  - Background  Neonatal malignant arrhythmias refractory to conventional antiarrhythmic therapy are life-threatening and pose a major therapeutic challenge, particularly in premature infants.Case presentation  We report a premature infant born at 36 + 2 weeks of gestation who developed ventricular tachycardia and cardiac arrest following resuscitation for perinatal asphyxia. As lidocaine and amiodarone failed to control the rhythm, veno‑arterial ECMO was initiated shortly thereafter. After ECMO support, the rhythm converted to sinus and cardiac function improved, allowing successful weaning. Electrocardiography subsequently revealed a prolonged QT interval, which responded to oral mexiletine. Whole‑exome sequencing identified a heterozygous SCN5A c.1960G > A (p.Glu654Lys) variant inherited from the father, classified as a variant of uncertain significance (VUS).Conclusions  This case suggests that this specific VUS may be a candidate pathogenic variant, and that early ECMO can be an effective salvage therapy when conventional drugs fail. Additionally, when genetic testing yields a VUS, the clinical phenotype and treatment response appear valuable for assessing pathogenicity in neonatal cases.
SN  - 1110-2608
SN  - 2090-911X
ER  -