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产后患者的努南综合征与心力衰竭

Noonan Syndrome and Heart Failure in a Postpartum Patient.

作者信息

Domínguez-López Jose Alberto, Teco-Mendoza Davina Desireé, Mendoza-Razo Luis E

机构信息

Genetics, Universidad Autónoma de Chiapas, Instituto de Salud del Estado de Chiapas, Tuxtla Gutiérrez, MEX.

General Medicine, Instituto de Salud de Chiapas, Tuxtla Gutiérrez, MEX.

出版信息

Cureus. 2025 Apr 11;17(4):e82109. doi: 10.7759/cureus.82109. eCollection 2025 Apr.

DOI:10.7759/cureus.82109
PMID:40357110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12066870/
Abstract

A 29-year-old postpartum woman with no prior Noonan syndrome diagnosis was admitted for recurrent chest pain, dyspnea, and palpitations. She had two adverse pregnancy outcomes, including a neonatal death due to perinatal asphyxia. Physical examination revealed characteristic facial features, and echocardiography confirmed biventricular failure, hypertrophic cardiomyopathy, and a 2.5 cm intracavitary thrombus in the left ventricle. She was treated with heart failure management, anticoagulation, and diuretics before being referred to a specialized cardiology center. This case highlights the challenges in diagnosing and managing cardiovascular complications in suspected Noonan syndrome.

摘要

一名29岁既往未诊断为努南综合征的产后女性因反复胸痛、呼吸困难和心悸入院。她有两次不良妊娠结局,包括一次因围产期窒息导致的新生儿死亡。体格检查发现特征性面部特征,超声心动图证实双心室衰竭、肥厚型心肌病以及左心室内一个2.5厘米的腔内血栓。在被转诊至专业心脏病中心之前,她接受了心力衰竭管理、抗凝和利尿剂治疗。该病例凸显了疑似努南综合征患者心血管并发症诊断和管理方面的挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/12066870/e7d1374bfea8/cureus-0017-00000082109-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/12066870/35f6ee5fe0f0/cureus-0017-00000082109-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/12066870/e7d1374bfea8/cureus-0017-00000082109-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/12066870/35f6ee5fe0f0/cureus-0017-00000082109-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/38f1/12066870/e7d1374bfea8/cureus-0017-00000082109-i02.jpg

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本文引用的文献

1
Noonan syndrome: improving recognition and diagnosis.努南综合征:提高识别与诊断水平。
Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4.
2
Noonan syndrome and pregnancy outcomes.努南综合征与妊娠结局。
Cardiol Young. 2022 Dec;32(12):1925-1929. doi: 10.1017/S104795112100514X. Epub 2022 Jan 17.
3
Combined cardiac anomalies in Noonan syndrome: A case report.努南综合征合并心脏异常:一例报告
Int J Surg Case Rep. 2020;72:32-36. doi: 10.1016/j.ijscr.2020.05.048. Epub 2020 May 30.
4
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.Noonan 综合征相关先天性心脏缺陷:诊断、处理与治疗。
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5.
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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.第二例全球范围内携带RAF1 S259Y新突变且患有新生儿肥厚型心肌病的努南综合征严重临床表型。
Genet Res (Camb). 2019 Apr 29;101:e6. doi: 10.1017/S0016672319000041.
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Heart failure in a patient with Noonan syndrome.
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