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Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

Delphine Yung1,2, Kaitlyn Freeman1, Ghayda Mirzaa2,3,4

  • 1Department of Pediatrics, Division of Cardiology, University of Washington School of Medicine, Seattle, WA 98195, USA.

Children (Basel, Switzerland)
|May 28, 2022
PubMed

Insights

Pulmonary vein stenosis (PVS) in children is a rare, severe condition. A patient with PVS and a PIK3CA mutation responded well to the targeted drug alpelisib.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Pulmonary vein stenosis (PVS) is a rare, often fatal pediatric disease with unknown causes.
  • Current treatments for PVS, including surgery and medications, have limited effectiveness.

Observation:

  • A pediatric patient with PVS was identified to have a PIK3CA mutation.
  • This patient received treatment with alpelisib, a targeted inhibitor.

Findings:

  • The patient with PVS and a PIK3CA mutation showed a significant positive response to alpelisib treatment.
  • This suggests PIK3CA may play a role in the pathophysiology of PVS.

Implications:

  • Targeted therapy with alpelisib may be a potential treatment option for pediatric patients with PVS and PIK3CA mutations.
  • Further research into the genetic underpinnings of PVS could lead to novel therapeutic strategies.
Keywords:
PIK3CAalpelisibpulmonary vein stenosis

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