McPherson Regina, Shehata Marina, Izquierdo-Pretel Guillermo
Anatomical Sciences, American University of Antigua, St. John's, ATG.
Internal Medicine, Florida International University, Herbert Wertheim College of Medicine, Miami, USA.
Cureus. 2025 Mar 27;17(3):e81314. doi: 10.7759/cureus.81314. eCollection 2025 Mar.
Marfan syndrome is a genetic condition that causes connective tissue abnormalities that can ultimately lead to cardiovascular complications such as aneurysms. When a bicuspid aortic valve is also present, which is a congenital heart defect characterized by the aortic valve having two cusps instead of three, a combined effect of serious cardiovascular complications can result. There is an additive and increased risk of aortic complications due to the combined impact on aortic integrity that can lead to aneurysm formation and/or dissections. A severe case of aortic stenosis with a thoracic aortic aneurysm (TAA) was discovered in a patient found to have Marfan syndrome. An elderly female patient, without any relevant medical history, was evaluated for progressive dyspnea following the death of her spouse. Upon examination, the patient exhibited characteristics of Marfan syndrome. Subsequent imaging revealed a bicuspid aortic valve and TAA. A multidisciplinary approach was necessary, involving various specialties to guide treatment. Given the patient's age and high-risk profile, she was not a candidate for TAA repair. However, the patient underwent a transcatheter aortic valve replacement (TAVR) with medical management and routine follow-ups. Awareness of the heightened risks associated with a bicuspid aortic valve and Marfan syndrome is crucial, as early intervention can mitigate complications and improve the quality of life.
马凡综合征是一种遗传性疾病,会导致结缔组织异常,最终可能引发心血管并发症,如动脉瘤。当同时存在二叶式主动脉瓣时(这是一种先天性心脏缺陷,其特征是主动脉瓣有两个瓣叶而非三个),可能会导致严重心血管并发症的综合效应。由于对主动脉完整性的综合影响,会增加主动脉并发症的风险,进而导致动脉瘤形成和/或夹层分离。在一名被诊断为马凡综合征的患者中,发现了一例伴有胸主动脉瘤(TAA)的严重主动脉瓣狭窄病例。一名老年女性患者,无任何相关病史,在其配偶去世后因进行性呼吸困难接受评估。检查时,该患者表现出马凡综合征的特征。随后的影像学检查显示存在二叶式主动脉瓣和胸主动脉瘤。需要采取多学科方法,涉及多个专业来指导治疗。鉴于患者的年龄和高风险状况,她不适合进行胸主动脉瘤修复手术。然而,该患者接受了经导管主动脉瓣置换术(TAVR),并进行了药物治疗和常规随访。认识到与二叶式主动脉瓣和马凡综合征相关的风险增加至关重要,因为早期干预可以减轻并发症并提高生活质量。