Freeze Samantha L, Landis Benjamin J, Ware Stephanie M, Helm Benjamin M
Department of Pediatrics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, USA.
Department of Medical & Molecular Genetics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, 975 West Walnut Street, IB-130, Indianapolis, IN, 46202, USA.
J Genet Couns. 2016 Dec;25(6):1171-1178. doi: 10.1007/s10897-016-0002-6. Epub 2016 Aug 22.
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.
二叶式主动脉瓣（BAV）是最常见的先天性心脏缺陷，属于左侧心脏缺陷范畴，也被称为左心室流出道梗阻（LVOTO）缺陷。BAV常出现在其他方面健康、无症状的个体中，但它与严重的长期健康风险相关，包括进行性主动脉瓣疾病（狭窄或反流）以及胸主动脉瘤和夹层。BAV和其他LVOTO缺陷具有高度遗传性。尽管存在针对高危亲属进行BAV心脏筛查的建议，但对于为患有BAV的患者和家庭提供遗传咨询，尚无标准指南。本综述描述了目前关于BAV及相关主动脉病变的知识，并为参与照顾患有这些畸形的患者和家庭的遗传咨询师提供指导。重点强调了BAV的遗传性及筛查建议。虽然本综述专门聚焦于BAV，但这些原则适用于其他LVOTO缺陷的咨询需求。
