The hereditary basis of bicuspid aortic valve disease: a role for screening?

摘要

Abstract: Over the past years, human and molecular genetic studies have provided new understanding of valve development and the molecular pathogenesis of bicuspid aortic valve (BAV) disease. BAV is an autosomal dominant disease with incomplete penetrance and is found to affect 1%–2% of the population. It can occur in isolation or coexists with other congenital heart diseases such as ventricular septal defect and tetralogy of fallot. BAV is a risk factor for premature cardiovascular disease and can lead to severe complications affecting the aorta and the valves. To date, NOTCH1 and GATA5 are the only genes linked to human BAV, and the genetic basis for most BAVs remains unidentified. Large-scale screening as well as whole exome sequencing studies hold promise for uncovering BAV-causing genes. Similarly, molecular analysis of valve development in animal models is needed for better insight of normal and pathologic valve formation. Together, these approaches will undoubtedly accelerate discovery of disease-causing genes opening the way for early diagnosis of BAV and prevention of valve degeneration and cardiovascular complications.