Dowaikh Abdullghany, Alsahari Atif, Khoshhal Saad, Momenah Tarek
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.
J Taibah Univ Med Sci. 2024 Apr 25;19(3):545-548. doi: 10.1016/j.jtumed.2024.04.003. eCollection 2024 Jun.
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.
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.
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.
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.
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。
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。
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。
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。