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胎儿孤立性肺动脉瓣缺如且室间隔完整的诊断：如何向父母提供咨询？

Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?

作者信息

Rakha Shaimaa, Alkhushi Naif

机构信息

Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Pediatric Cardiology Unit, Department of Pediatrics, King Abdul-Aziz University, Jeddah, Saudi Arabia.

出版信息

Ann Pediatr Cardiol. 2020 Apr-Jun;13(2):136-140. doi: 10.4103/apc.APC_101_19. Epub 2020 Mar 30.

DOI:10.4103/apc.APC_101_19
PMID:32641885
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7331835/
Abstract

Isolated absent pulmonary valve syndrome with an intact ventricular septum (APVS/IVS) is an extremely rare lesion. The prenatal diagnosis was described in a few reports. In the current work, we report a unique fetal case with this rare anomaly. The family counseling for isolated APVS/IVS is a different challenging process than with fetal Fallot type diagnosis. Moreover, 22q11 deletion has never been found as an association. Parents must also be aware of the expected early heart failure in cases with large patent ductus arteriosus and the need for its closure as early as possible.

摘要

孤立性室间隔完整的肺动脉瓣缺如综合征（APVS/IVS）是一种极其罕见的病变。少数报告中描述了其产前诊断情况。在本研究中，我们报告了一例患有这种罕见异常的独特胎儿病例。与胎儿法洛四联症诊断相比，针对孤立性APVS/IVS的遗传咨询是一个不同的具有挑战性的过程。此外，从未发现22q11缺失与之相关。父母还必须了解，对于动脉导管未闭较大的病例，预期会出现早期心力衰竭，以及尽早关闭动脉导管的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/ab2531abca98/APC-13-136-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/61f67ab70e05/APC-13-136-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/3b4103f7b2f4/APC-13-136-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/2076bd779ade/APC-13-136-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/ab2531abca98/APC-13-136-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/61f67ab70e05/APC-13-136-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/3b4103f7b2f4/APC-13-136-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/2076bd779ade/APC-13-136-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1533/7331835/ab2531abca98/APC-13-136-g004.jpg

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A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation.一例产前诊断为肺动脉瓣缺如综合征合并室间隔完整、动脉导管未闭及升主动脉扩张的病例。
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本文引用的文献

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Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.胎儿肺动脉瓣缺如综合征：一例报告及文献复习
Fetal Pediatr Pathol. 2019 Feb;38(1):57-62. doi: 10.1080/15513815.2018.1529066. Epub 2019 Jan 20.
2
Prenatal physiologic findings and postnatal advanced imaging in the management of absent pulmonary valve syndrome with intact ventricular septum.
Echocardiography. 2018 Oct;35(10):1695-1697. doi: 10.1111/echo.14121. Epub 2018 Aug 13.
3
Absent pulmonary valve syndrome - diagnosis, associations, and outcome in 71 prenatally diagnosed cases.肺动脉瓣缺如综合征的产前诊断、合并症及结局：71 例病例分析
Prenat Diagn. 2017 Aug;37(8):812-819. doi: 10.1002/pd.5094. Epub 2017 Jul 12.
4
Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome.孕早期起肺动脉瓣缺如综合征的产前诊断：对病理生理学、相关情况及预后的新认识
Ultrasound Obstet Gynecol. 2017 May;49(5):637-642. doi: 10.1002/uog.15977. Epub 2017 Apr 5.
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Absent pulmonary valve: a case with rare presentation treated with bioprosthetic valve replacement.
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Absent pulmonary valve syndrome - Antenatal diagnosis.肺动脉瓣缺如综合征——产前诊断
Med J Armed Forces India. 2014 Apr;70(2):198-200. doi: 10.1016/j.mjafi.2013.07.002. Epub 2013 Sep 26.
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Anatomic variability and outcome in prenatally diagnosed absent pulmonary valve syndrome.产前诊断肺动脉瓣缺如综合征的解剖学变异与结局。
Ann Thorac Surg. 2014 Jul;98(1):152-8. doi: 10.1016/j.athoracsur.2014.03.002. Epub 2014 May 1.
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Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature.产前诊断和肺动脉瓣缺如综合征的转归：当代单中心经验和文献复习。
Ultrasound Obstet Gynecol. 2013 Feb;41(2):162-7. doi: 10.1002/uog.11193. Epub 2013 Jan 7.
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Tricuspid atresia with absent pulmonary valve and intact ventricular septum: a rare association.三尖瓣闭锁合并肺动脉瓣缺如及室间隔完整：一种罕见的关联。
Congenit Heart Dis. 2011 Jul-Aug;6(4):393-6. doi: 10.1111/j.1747-0803.2010.00477.x. Epub 2011 Mar 10.
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Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature.法洛四联症不相关的肺动脉瓣缺如综合征患者的产前诊断及产后结局：1例报告并文献复习
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