Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation.
Delphine YungKaitlyn FreemanGhayda M MirzaaPublished in: Children (Basel, Switzerland) (2022)
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.
Keyphrases
- cell proliferation
- cancer therapy
- minimally invasive
- coronary artery bypass
- case report
- left ventricular
- protein kinase
- genome wide
- dna repair
- drug delivery
- ultrasound guided
- early life
- heart failure
- pi k akt
- surgical site infection
- gene expression
- acute coronary syndrome
- dna methylation
- signaling pathway
- percutaneous coronary intervention
- atrial fibrillation