Pulmonary Vein Stenosis Associated with Germline <i>PIK3CA</i> Mutation
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, whi...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
MDPI AG,
2022-05-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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. |
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| Item Description: | 10.3390/children9050671 2227-9067 |