Saugstad Austin, Ravi Srekar, Bcharah George, Firth Christine E, Bcharah Hend, Abdul Nabi Hussein, Pham Hoang Nhat, Ibrahim Ramzi, Kumar Sant J, Abdelnabi Mahmoud, Baudhuin Linnea M, Wang Yuxiang, Osundiji Mayowa A, Shamoun Fadi
Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.
Department of Cardiovascular Medicine, Creighton University, Phoenix, AZ 85012, USA.
J Cardiovasc Dev Dis. 2025 Apr 24;12(5):167. doi: 10.3390/jcdd12050167.
Bicuspid aortic valve (BAV) and thoracic aortic aneurysms and dissections (TAAD) are recognized in syndromic connective tissue diseases (CTD), but most cases occur sporadically. The extent to which non-syndromic BAV or TAAD predisposes to additional arteriopathies, particularly in younger individuals, remains unclear. We retrospectively analyzed 1438 patients (mean age = 48.0, 67.7% female), excluding those with CTDs. Participants were ≤60 years old and categorized by the presence of BAV and/or TAAD. We examined co-existing arterial pathologies, including fibromuscular dysplasia, spontaneous coronary artery dissection, abdominal aortic aneurysms (AAA), mesenteric, peripheral extremity, and carotid/cerebral arteriopathies. Overall, 44.6% had either BAV or TAAD, and 27.2% had multiple arteriopathies. While vascular diseases were frequently noted, odds ratios demonstrated no significantly increased risk of extra-aortic arteriopathies in the BAV or TAAD cohorts. AAA exhibited a non-significant trend toward higher prevalence in TAAD patients. These findings support current guidelines recommending targeted imaging (transthoracic echocardiography of the aortic root and ascending aorta) over comprehensive "head-to-pelvis" screening for non-syndromic BAV or TAAD patients without additional risk factors. Ongoing genetic analyses may elucidate whether particular variants predispose to multi-site aneurysms or dissections. Consequently, targeted surveillance remains appropriate, with broader imaging reserved for patients with genetic or clinical indicators of higher risk.
二叶式主动脉瓣（BAV）以及胸主动脉瘤和夹层（TAAD）在综合征性结缔组织病（CTD）中较为常见，但大多数病例为散发性。非综合征性BAV或TAAD在多大程度上易引发其他动脉病变，尤其是在年轻个体中，目前尚不清楚。我们回顾性分析了1438例患者（平均年龄 = 48.0岁，女性占67.7%），排除了患有CTD的患者。参与者年龄≤60岁，并根据是否存在BAV和/或TAAD进行分类。我们检查了并存的动脉病变，包括纤维肌发育不良、自发性冠状动脉夹层、腹主动脉瘤（AAA）、肠系膜、外周肢体以及颈动脉/脑动脉病变。总体而言，44.6%的患者患有BAV或TAAD，27.2%的患者患有多种动脉病变。虽然血管疾病较为常见，但优势比显示BAV或TAAD队列中主动脉外动脉病变的风险没有显著增加。AAA在TAAD患者中的患病率呈非显著上升趋势。这些发现支持当前指南，即对于无其他危险因素的非综合征性BAV或TAAD患者，推荐进行针对性成像（主动脉根部和升主动脉的经胸超声心动图）而非全面的“从头到骨盆”筛查。正在进行的基因分析可能会阐明特定变异是否易导致多部位动脉瘤或夹层。因此，针对性监测仍然是合适的，对于具有高风险基因或临床指标的患者则进行更广泛的成像检查。
