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Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation.

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.

SUBMITTER: Yung D

PROVIDER: S-EPMC9139298 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Pulmonary Vein Stenosis Associated with Germline <i>PIK3CA</i> Mutation.

Yung Delphine D Freeman Kaitlyn K Mirzaa Ghayda G

Children (Basel, Switzerland) 20220505 5

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 <i>PIK3CA</i> mutation, who demonstrated a good response to the targeted inhibitor, alpelisib. ...[more]

PMID: 35626846

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