Delphine Yung, Kaitlyn Freeman, Ghayda Mirzaa
University of Washington School of Medicine and Seattle Children’s Research Institute. Brotman Baty Institute for Precision Medicine.
United States
Children
Children 2022; 9:
DOI: 10.3390/children9050671
Abstract
Pulmonary vein stenosis is a rare and frequently lethal childhood disease. There are few known genetic associations, and the pathophysiology is not well known. Current treatments include surgery, interventional cardiac catheterization, and more recently, medications targeting cell proliferation, which are not uniformly effective. We present a patient with PVS and a PIK3CA mutation, who demonstrated a good response to the targeted inhibitor, alpelisib.
Category
Stenosis or Obstruction of Normal Pulmonary Venous Connections
Genetic Factors Influencing the Onset, Severity or Outcome of Disease
Surgical Interventions for Pulmonary Venous Obstruction After the Onset of Disease
Medical Therapy to Prevent Progression of Disease. Efficacy or Lack of Efficacy
Medical Therapy. Adverse Effects or Lack of Adverse Effects
Year of Publication: 2022
Age Focus: Pediatric
Article Type: Case Reports or Retrospective Observations in Small Groups of Patients (≤10 patients)
Article Access: Free PDF File or Full Text Article Available Through PubMed or DOI: Yes