Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation

被引：2

作者：

Yung, Delphine ^{[1
,2
]}

Freeman, Kaitlyn ^{[1
]}

Mirzaa, Ghayda ^{[2
,3
,4
]}

机构：

[1] Univ Washington, Sch Med, Dept Pediat, Div Cardiol, Seattle, WA 98195 USA

[2] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98105 USA

[3] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA

[4] Brotman Baty Inst Precis Med, Seattle, WA 98195 USA

来源：

CHILDREN-BASEL | 2022年 / 9卷 / 05期

关键词：

pulmonary vein stenosis; PIK3CA; alpelisib; CHILDREN;

D O I：

10.3390/children9050671

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页数：7

共 23 条

[1] Pulmonary Vein Stenosis in Infants: A Systematic Review, Meta-Analysis, and Meta-Regression [J].

Backes, Carl H. ;

Nealon, Erin ;

Armstrong, Aimee K. ;

Cua, Clifford L. ;

Mitchell, Courtney ;

Krishnan, Usha ;

Vanderlaan, Rachel D. ;

Song, Mi Kyoung ;

Viola, Nicola ;

Smith, Charles V. ;

McConnell, Patrick I. ;

Rivera, Brian K. ;

Bridge, Jeffrey .

JOURNAL OF PEDIATRICS, 2018, 198 :36-+

[2] Pulmonary vein stenosis with normal connection: Associated cardiac abnormalities and variable outcome [J].

Breinholt, JP ;

Hawkins, JA ;

Minich, LA ;

Tani, LY ;

Orsmond, GS ;

Ritter, S ;

Shaddy, RE .

ANNALS OF THORACIC SURGERY, 1999, 68 (01) :164-168

[3] Treatment of recurrent pulmonary vein stenoses with endovascular stenting and adjuvant oral sirolimus [J].

Bromberg-Marin, Guilherme ;

Tsimikas, Sotirios ;

Mahmud, Ehtisham .

CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS, 2007, 69 (03) :362-368

[4] Systemic Sirolimus to Prevent In-Stent Stenosis in Pediatric Pulmonary Vein Stenosis [J].

Callahan, Ryan ;

Esch, Jesse J. ;

Wang, Grace ;

Ireland, Christina M. ;

Gauvreau, Kimberlee ;

Jenkins, Kathy J. .

PEDIATRIC CARDIOLOGY, 2020, 41 (02) :282-289

[5] Adjunct Targeted Biologic Inhibition Agents to Treat Aggressive Multivessel Intraluminal Pediatric Pulmonary Vein Stenosis [J].

Callahan, Ryan ;

Kieran, Mark W. ;

Baird, Christopher W. ;

Colan, Steven D. ;

Gauvreau, Kimberlee ;

Ireland, Christina M. ;

Marshall, Audrey C. ;

Sena, Laureen M. ;

Vargas, Sara O. ;

Jenkins, Kathy J. .

JOURNAL OF PEDIATRICS, 2018, 198 :29-+

[6] Longer Exposure to Left-to-Right Shunts Is a Risk Factor for Pulmonary Vein Stenosis in Patients with Trisomy 21 [J].

Choi, Connie ;

Gauvreau, Kimberlee ;

Levy, Philip ;

Callahan, Ryan ;

Jenkins, Kathy J. ;

Chen, Minghui .

CHILDREN-BASEL, 2021, 8 (01)

[7] A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement [J].

Douzgou, Sofia ;

Rawson, Myfanwy ;

Baselga, Eulalia ;

Danielpour, Moise ;

Faivre, Laurence ;

Kashanian, Alon ;

Keppler-Noreuil, Kim M. ;

Kuentz, Paul ;

Mancini, Grazia M. S. ;

Maniere, Marie-Cecile ;

Martinez-Glez, Victor ;

Parker, Victoria E. ;

Semple, Robert K. ;

Srivastava, Siddharth ;

Vabres, Pierre ;

De Wit, Marie-Claire Y. ;

Graham, John M., Jr. ;

Clayton-Smith, Jill ;

Mirzaa, Ghayda M. ;

Biesecker, Leslie G. .

CLINICAL GENETICS, 2022, 101 (01) :32-47

[8] Pulmonary vein stenosis: Prematurity and associated conditions [J].

Drossner, David M. ;

Kim, Dennis W. ;

Maher, Kevin O. ;

Mahle, William T. .

PEDIATRICS, 2008, 122 (03) :E656-E661

[9] Primary pulmonary vein stenosis during infancy: state of the art review [J].

Frank, David B. ;

Levy, Philip T. ;

Stiver, Corey A. ;

Boe, Brian A. ;

Baird, Christopher W. ;

Callahan, Ryan M. ;

Smith, Charles V. ;

Vanderlaan, Rachel D. ;

Backes, Carl H. .

JOURNAL OF PERINATOLOGY, 2021, 41 (07) :1528-1539

[10] Rare cancer-specific mutations in PIK3CA show gain of function [J].

Gymnopoulos, Marco ;

Elsliger, Marc-Andre ;

Vogt, Peter K. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (13) :5569-5574

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