Bicuspid aortic valve (BAV) is one of the most common congenital diseases, affecting 1–2% of the general population. Although most of them are sporadic, some familial cases have also been detected. BAV is a complex developmental and progressive pathology, which may present with various clinical findings from newborn to adulthood. It may be suspected during cardiac auscultation or may be diagnosed by echocardiography incidentally. Some BAV cases may remain symptomless for years, with findings like valvular stenosis, insufficiency, or dilatation in the ascending aorta, whereas some others may present with early severe aortic valve dysfunction, premature congestive heart failure, and aortic aneurysms even in the newborn period. Such heterogeneous presentations of BAV phenotypes may be associated with congenital, genetic, and/or connective tissue abnormalities. The natural course of BAV is nonpredictable, it may lead to severe morbidity and mortality.
Part of the book: Structural Insufficiency Anomalies in Cardiac Valves