Nistri Stefano, Basso Cristina, Thiene Gaetano
Servizio di Cardiologia, CMSR Veneto Medica, Altavilla Vicentina (VI).
G Ital Cardiol (Rome). 2012 Jan;13(1):25-37. doi: 10.1714/1015.11053.
Bicuspid aortic valve (BAV) is the most common congenital heart disease, whose natural history is characterized by the incidence of clinically relevant valvular (stenosis, regurgitation, endocarditis) and/or vascular complications regarding the thoracic aorta (dilation, aneurysm, dissection) and, rarely, intracranial and epiaortic arteries. BAV may be heritable, with an autosomal dominant pattern of inheritance with reduced penetrance; moreover, some data suggest that BAV and thoracic aorta aneurysm are independent manifestations of a single gene defect. The prevalence of BAV and its susceptibility to valvular and aortic complications during the whole life result into the need of strict clinical follow-up and appropriate therapies (medical as well as surgical) to be addressed according to guidelines specifically designed for these patients.
二叶式主动脉瓣(BAV)是最常见的先天性心脏病,其自然病史的特点是临床上相关瓣膜(狭窄、反流、心内膜炎)和/或胸主动脉(扩张、动脉瘤、夹层)血管并发症的发生率,以及罕见的颅内和主动脉上动脉并发症。BAV可能具有遗传性,呈常染色体显性遗传模式,外显率降低;此外,一些数据表明BAV和胸主动脉瘤是单一基因缺陷的独立表现。BAV的患病率及其在一生中发生瓣膜和主动脉并发症的易感性导致需要进行严格的临床随访,并根据专门为这些患者设计的指南进行适当的治疗(药物治疗和手术治疗)。