title: Bicuspid Aortic Valve: A Review of its Genetics and Clinical Significance.
abstract: The aim of this review was to describe recent advancements in the understanding of bicuspid aortic valve (BAV). BAV is the most common congenital cardiac anomaly, and affects between 0.46% and 1.37% of the population. There is a male predominance of approximately 3:1.While isolated BAV is found in certain patients, it is often associated with other congenital cardiac lesions, including dilatation of the thoracic aorta, coarctation of the aorta and abnormalities of the coronary anatomy. In most cases, it remains undetected until the patient contracts infective endocarditis, or calcification occurs. Alternatively, the BAV may remain functional for the entirety of the subjects' life, or it may develop progressive calcification, stenosis and regurgitation, with or without infection. Additionally, BAV is associated with aortic aneurysm formation and aortic dissection. Because BAV is a disease of both the valve and the aorta, surgical decision-making is complicated and remains an important challenge to the surgeon. Although recent reports have improved the current knowledge of the disease, many questions remain unresolved. The present review summarizes the current knowledge regarding the genetic basis of BAV and highlights some of the recent findings that have shed a light on the complications of this disease.
authors.affiliation: Division of Thoracic and Cardiovascular Surgery, Department of Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.affiliation: Division of Thoracic and Cardiovascular Surgery, Department of Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu, China. Electronic correspondence: xfaw13@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Ming Wang
authors.affiliation: Division of Thoracic and Cardiovascular Surgery, Department of Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Chen
authors.affiliation: Division of Thoracic and Cardiovascular Surgery, Department of Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Chen
mesh_terms: D000784:Aortic Dissection / Q000150:complications; D001011:Aorta / Q000473:pathology; D001021:Aortic Valve / Q000002:abnormalities* / Q000196:embryology; D001022:Aortic Valve Insufficiency / Q000150:complications; D001024:Aortic Valve Stenosis / Q000150:complications; D000082882:Bicuspid Aortic Valve Disease; D004108:Dilatation, Pathologic / Q000150:complications; D004697:Endocarditis, Bacterial / Q000150:complications; D006349:Heart Valve Diseases / Q000150:complications / Q000196:embryology / Q000235:genetics*; D006801:Humans