Department of Pediatrics III, Faculty of Medicine, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 540136 Targu Mures, Romania.
Department of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and Transplantation of Târgu Mureș, 540136 Targu Mures, Romania.
Int J Mol Sci. 2023 Sep 13;24(18):14027. doi: 10.3390/ijms241814027.
Bicuspid aortic valve (BAV) is the most commonly encountered congenital malformation in the pediatric population, associated with aortic leaflet degeneration and aortopathy. However, studies on BAV and its complications in children are limited. We present the case of a 16-year-old with type 1B BAV with a raphe with fusion between the right and non-coronary cusps who exhibited severe aortic stenosis, regurgitation, and progressive dilatation of the ascending aorta. Surgical intervention, including aortic valve and aortic root replacement, was performed due to the patient's deteriorating condition. Histopathological examination revealed degenerative changes and calcifications in the aortic valve and mucoid fibrosis in the ascending aorta. The results are consistent with BAV patients being predisposed to aortic stenosis and regurgitation due to increased mechanical stress and hemodynamic abnormalities. Although more common in adults and a rare complication in pediatric patients, calcification was previously observed concurrently with rapid valve degeneration in our daily practice. Further studies are needed to improve our understanding of the mechanisms underlying BAV-related complications and refine treatment strategies for pediatric patients.
二叶式主动脉瓣（BAV）是儿科人群中最常见的先天性畸形，与主动脉瓣叶退行性变和主动脉病变有关。然而，关于儿童 BAV 及其并发症的研究有限。我们报告了 1 例 16 岁的 1B 型 BAV 患者，其特点是右冠和无冠瓣叶之间存在融合嵴，表现为严重的主动脉瓣狭窄、反流和升主动脉进行性扩张。由于患者病情恶化，进行了外科干预，包括主动脉瓣和主动脉根部置换术。组织病理学检查显示主动脉瓣退行性变和钙化以及升主动脉黏液样纤维变性。结果与 BAV 患者由于机械应力增加和血流动力学异常易发生主动脉瓣狭窄和反流的情况一致。虽然在成人中更为常见，在儿科患者中则较为罕见，但在我们的日常实践中，此前曾观察到钙化与快速瓣膜退行性变同时存在。需要进一步研究以提高我们对 BAV 相关并发症机制的理解，并完善儿科患者的治疗策略。
