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Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow.心脏姑息手术对18三体综合征且肺血流量增加患者的疗效。
Am J Med Genet A. 2023 Nov;191(11):2703-2710. doi: 10.1002/ajmg.a.63401. Epub 2023 Sep 12.
2
Survival of children with trisomy 18 associated with the presence of congenital heart disease and intervention in the Republic of Korea.韩国先天性心脏病与三体 18 型患儿生存情况及干预措施
BMC Pediatr. 2023 May 20;23(1):252. doi: 10.1186/s12887-023-04056-4.
3
Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care.唐氏综合征 13 三体和 18 三体患者的心脏介入治疗:经验、伦理问题、沟通以及个体化家庭为中心的护理的理由。
World J Pediatr Congenit Heart Surg. 2022 Jan;13(1):72-76. doi: 10.1177/21501351211044132.
4
Ethical issues about the paradigm shift in the treatment of children with trisomy 18.18 三体综合征患儿治疗范式转变的伦理问题。
Eur J Pediatr. 2020 Mar;179(3):493-497. doi: 10.1007/s00431-019-03531-4. Epub 2019 Dec 9.
5
An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18.84例18三体综合征患者心脏缺陷及外科干预分析
Am J Med Genet A. 2016 Feb;170A(2):337-343. doi: 10.1002/ajmg.a.37427. Epub 2015 Oct 9.
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A new trisomic syndrome.一种新的三体综合征。
Lancet. 1960 Apr 9;1(7128):787-90. doi: 10.1016/s0140-6736(60)90675-9.

18三体综合征的心脏护理:改善预后的途径(病例报告)

Cardiac care in trisomy 18: A path to improved outcomes (case report).

作者信息

Dowaikh Abdullghany, Alsahari Atif, Khoshhal Saad, Momenah Tarek

机构信息

Pediatric Cardiology Department, Prince Sultan Cardiac Center, Riyadh, Kingdom of Saudi Arabia.

Structural Heart Interventionist, Pediatric Cardiology Department, Prince Sultan Cardiac Center, Riyadh, Kingdom of Saudi Arabia.

出版信息

J Taibah Univ Med Sci. 2024 Apr 25;19(3):545-548. doi: 10.1016/j.jtumed.2024.04.003. eCollection 2024 Jun.

DOI:10.1016/j.jtumed.2024.04.003
PMID:38736899
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11081794/
Abstract

BACKGROUND

Trisomy 18 (also known as Edwards syndrome) is a chromosomal disorder characterized by severe developmental anomalies and cognitive deficits. Cardiac complications are a leading cause of mortality in these patients, and the role of cardiac interventions remains controversial.

CASE PRESENTATION

We report a case of a full-term baby girl with trisomy 18, born via elective cesarean section. The neonate presented with pulmonary atresia and a series of other cardiac abnormalities, necessitating immediate intervention. Despite the initial challenges, including a brief episode of desaturation post-intervention, the patient responded positively to a balloon pulmonary valvuloplasty and emergency patent ductus arteriosus stent insertion, illustrating the potential benefits of cardiac interventions in patients with trisomy 18.

DISCUSSION

This case highlights the successful application of cardiac interventions in a patient with trisomy 18, challenging the notion of universally denying such treatments to this population. Our findings suggest that selective interventions can improve quality of life and stabilize the condition, supporting the need for further research to establish clear guidelines for treatment in this demographic.

CONCLUSION

This case adds to the growing evidence supporting the feasibility and potential benefits of cardiac interventions in patients with trisomy 18, advocating for a more individualized approach to treatment.

摘要

背景

18三体综合征(也称为爱德华兹综合征)是一种染色体疾病,其特征为严重的发育异常和认知缺陷。心脏并发症是这些患者死亡的主要原因,心脏干预措施的作用仍存在争议。

病例介绍

我们报告一例通过择期剖宫产出生的足月女婴患有18三体综合征。该新生儿出现肺动脉闭锁及一系列其他心脏异常,需要立即进行干预。尽管最初面临挑战,包括干预后出现短暂的血氧饱和度下降,但患者对球囊肺动脉瓣成形术和紧急动脉导管未闭支架置入术反应良好,这表明心脏干预措施对18三体综合征患者具有潜在益处。

讨论

该病例突出了心脏干预措施在18三体综合征患者中的成功应用,对普遍拒绝为这一人群提供此类治疗的观念提出了挑战。我们的研究结果表明,选择性干预可以改善生活质量并稳定病情,支持需要进一步研究以制定针对这一人群的明确治疗指南。

结论

该病例进一步证明了支持心脏干预措施在18三体综合征患者中可行性和潜在益处的证据不断增加,主张采用更个体化的治疗方法。