Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Echocardiography. 2024 Oct;41(10):e15942. doi: 10.1111/echo.15942.
Tetralogy of Fallot with an absent pulmonary valve is a very rare variant of tetralogy. It is characterized by absent valve tissue, severe pulmonary regurgitation, and secondary aneurysmal dilatation of the pulmonary arteries.
In this study, we aim to investigate the clinical presentations, management strategies, and outcomes of patients with tetralogy of Fallot and absent pulmonary valve.
We retrospectively reviewed the charts of all patients who presented to the American University of Beirut Medical Center between January 2010 and December 2020 and who were diagnosed with this anomaly.
A total of 300 cases of tetralogy of Fallot were identified, of which 18 patients had absent pulmonary valves. They were followed up for an average of 8.2 years. Prenatal diagnoses were made in four patients, while 13 patients were identified in the neonatal period, with an average age of 4.5 days. Genetic testing confirmed DiGeorge syndrome in one patient. Five patients underwent surgical intervention in the neonatal period, while the remaining patients were operated on during their early childhood. While overall there were no surgical mortalities nor any need for reinterventions, a variety of morbidities were encountered.
This study provides an overview of this rare anomaly and its management in a developing country.
肺动脉瓣缺如型法洛四联症是法洛四联症的一种非常罕见的变异。其特征为瓣叶缺如、严重肺动脉瓣反流和肺动脉继发性瘤样扩张。
本研究旨在探讨肺动脉瓣缺如型法洛四联症患者的临床表现、治疗策略和结局。
我们回顾性分析了 2010 年 1 月至 2020 年 12 月期间在美国贝鲁特大学医学中心就诊并被诊断为这种异常的所有患者的病历。
共确定了 300 例法洛四联症患者，其中 18 例患者存在肺动脉瓣缺如。这些患者平均随访 8.2 年。4 例患者在产前做出诊断，13 例患者在新生儿期确诊，平均年龄为 4.5 天。1 例患者的基因检测证实为 DiGeorge 综合征。5 例患者在新生儿期接受了手术干预，其余患者在幼儿期进行了手术。尽管总体上没有手术死亡或需要再次干预的情况，但仍出现了多种并发症。
本研究提供了在发展中国家对这种罕见异常及其治疗方法的概述。
