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<p>Pathogenic variants in KCNT1, a gene encoding a sodium-activated potassium channel, are classically associated with severe early-onset epileptic encephalopathies. Emerging evidence indicates that some individuals with KCNT1-related disorders also develop systemic-to-pulmonary vascular anomalies, often initially misidentified as major aortopulmonary collateral arteries (MAPCAs) due to radiographic similarities with congenital heart disease. Unlike true MAPCAs, these vessels arise in the absence of structural cardiac defects and appear to result from abnormal angiogenesis driven by dysregulated KCNT1-mediated signaling. Misclassification may lead to inappropriate interventions or management strategies. Here, a multidisciplinary expert working group reviewed published cases, institutional experience, and imaging findings to develop an expert opinion for nomenclature, diagnosis, and management of these vascular anomalies. We recommend adopting the term systemic-pulmonary collaterals (SPCs) to accurately describe these angiogenic vessels. Risk-based screening, judicious catheter-based embolization when physiologically indicated, and careful avoidance of standard pulmonary vasodilators are emphasized. This statement aims to improve clinical recognition, precision in terminology, and safe management of vascular complications in patients with KCNT1-related disorders.</p>

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Systemic-Pulmonary Collaterals in KCNT1-Related Disorders: Precise Nomenclature and Management

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月13日

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  • Jeffery Delaney,
  • Utkarsh Kohli,
  • Yuki Kawasaki,
  • Casey Burg,
  • Ponghatai Boonsimma,
  • Azusa Ikeda,
  • Tanitnun Paprad,
  • David Bearden,
  • Justin West,
  • Sarah Drislane,
  • Brad Bryan,
  • Amanda Abuhl

摘要

Pathogenic variants in KCNT1, a gene encoding a sodium-activated potassium channel, are classically associated with severe early-onset epileptic encephalopathies. Emerging evidence indicates that some individuals with KCNT1-related disorders also develop systemic-to-pulmonary vascular anomalies, often initially misidentified as major aortopulmonary collateral arteries (MAPCAs) due to radiographic similarities with congenital heart disease. Unlike true MAPCAs, these vessels arise in the absence of structural cardiac defects and appear to result from abnormal angiogenesis driven by dysregulated KCNT1-mediated signaling. Misclassification may lead to inappropriate interventions or management strategies. Here, a multidisciplinary expert working group reviewed published cases, institutional experience, and imaging findings to develop an expert opinion for nomenclature, diagnosis, and management of these vascular anomalies. We recommend adopting the term systemic-pulmonary collaterals (SPCs) to accurately describe these angiogenic vessels. Risk-based screening, judicious catheter-based embolization when physiologically indicated, and careful avoidance of standard pulmonary vasodilators are emphasized. This statement aims to improve clinical recognition, precision in terminology, and safe management of vascular complications in patients with KCNT1-related disorders.