Key result
The EBTNA Utility Gene Test for bicuspid aortic valve is useful for confirming clinical diagnosis, differential diagnosis, couple risk assessment, and facilitating access to clinical trials.
A Utility Gene Test for bicuspid aortic valve can aid in diagnosis, risk assessment, and clinical trial access.
May support BAV genetic testing for diagnosis and trial access; leaves open prospective validation before practice change.
Bicuspid aortic valve (BAV) is a congenital defect in which the aortic valve has two rather than three leaflets. In many patients valve function may be normal but valve decompensation may occur due to other associated congenital abnormalities and secondary valve and aortic complications. Decompensation manifests as stenosis or regurgitation and thoracic aortic aneurysm and dissection. Cystic medial necrosis plays an important role in the pathogenesis of BAV. Prevalence of BAV is estimated at 0.5-2.0%. In children, 70-85% of stenotic aortic valves are bicuspid, compared to at least 50% in adults. BAV has autosomal dominant inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
No takes yet. Share an insight, caveat, or question.
Rakhmanov et al. (2018) conducted a review in Bicuspid aortic valve. EBTNA UTILITY GENE TEST was evaluated. The EBTNA Utility Gene Test for bicuspid aortic valve is useful for confirming clinical diagnosis, differential diagnosis, couple risk assessment, and facilitating access to clinical trials.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: