Holthe Jordan, Javed Rabia, Cetta Frank, Stephens Elizabeth H, Johnson Jonathan N, Hagler Donald J, Niaz Talha
Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, MN, USA.
Pediatric Hospital Medicine, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA.
World J Pediatr Congenit Heart Surg. 2024 Sep;15(5):621-627. doi: 10.1177/21501351241247515. Epub 2024 Jul 25.
Quadricuspid aortic valve (QAV) is an exceedingly rare congenital heart defect (CHD) which has not been well-defined in a pediatric population.
The Mayo Clinic echocardiography database was retrospectively analyzed to identify patients ≤18 years diagnosed with QAV from January 1990 to December 2023. Patients with truncus arteriosus were excluded. All images were independently reviewed to define morphology of the QAV by using the Hurwitz and Roberts classification.
Fourteen patients with QAV were identified with a median age at time of diagnosis being 10.5 years (interquartile range [IQR] 6-14 years). Male-to-female ratio was 3:1. Associated CHDs were present in 50% (n = 7) patients. The most common morphological subtypes of QAV were Type D in 43% (n = 6) and Type B in 29% (n = 4). Aortic regurgitation was the most frequently associated valvular abnormality affecting 86% (n = 12) cases, with greater than moderate regurgitation in only two patients. Aortic valve stenosis was observed in 14% (n = 2) patients. Ascending aortic dilatation was present in 21% (3/14) of the cohort, but only 14% (1/7) of isolated QAV patients. At a mean follow up of 11 ± 6.6 years and a median follow-up age of 22 years (IQR 14-27 years), survival was 100% with no primary interventions on the aortic valve or aorta. However, four patients required surgical interventions for associated CHDs.
Among children with QAV, almost half of the patients had additional CHD. Aortic regurgitation was the predominant hemodynamic abnormality. Long-term survival was excellent with minimal progression during childhood and adolescence.
四叶式主动脉瓣（QAV）是一种极其罕见的先天性心脏病（CHD），在儿科人群中尚未得到明确界定。
对梅奥诊所超声心动图数据库进行回顾性分析，以确定1990年1月至2023年12月期间诊断为QAV的18岁及以下患者。排除患有动脉干的患者。所有图像均由独立人员进行审查，以使用赫尔维茨和罗伯茨分类法确定QAV的形态。
共确定14例QAV患者，诊断时的中位年龄为10.5岁（四分位间距[IQR]6 - 14岁）。男女比例为3:1。50%（n = 7）的患者存在相关的先天性心脏病。QAV最常见的形态学亚型为D型，占43%（n = 6），B型占29%（n = 4）。主动脉瓣反流是最常见的相关瓣膜异常，影响86%（n = 12）的病例，只有两名患者存在大于中度的反流。14%（n = 2）的患者观察到主动脉瓣狭窄。21%（3/14）的队列存在升主动脉扩张，但孤立性QAV患者中只有14%（1/7）存在。平均随访11 ± 6.6年，中位随访年龄为22岁（IQR 14 - 27岁），生存率为100%，主动脉瓣或主动脉未进行主要干预。然而，4例患者因相关的先天性心脏病需要手术干预。
在患有QAV的儿童中，几乎一半的患者有其他先天性心脏病。主动脉瓣反流是主要的血流动力学异常。长期生存率良好，在儿童期和青春期进展极小。
