Clinical and pathophysiological aspects of bicuspid aortic valve disease

Abstract

A bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal function throughout life and never need treatment. Numerous genetic mechanisms are involved in the abnormal cellular functions that may cause abnormal development of the aortic valve during early foetal life. As several chromosomal disorders are also associated with a bicuspid valve, there does not appear to be an apparent common trigger to the abnormal development of the aortic valve. The clinical care of the bicuspid aortic valve patient has been changed by a significant body of evidence that has improved the understanding of the natural history of the disease, including when to best intervene with valve replacement and when to provide prophylactic aortic root surgery. Moreover, as bicuspid valve disease is also part of various syndromes, we can identify high-risk patients in whom a bicuspid valve is much more unfavourable than in the normal population. This review provides an overview of all aspects of the bicuspid aortic valve condition and gives an updated perspective on issues from pathophysiology to clinical care of bicuspid aortic valve disease and associated aortic disease in asymptomatic, symptomatic, and pregnant patients, as well as our viewpoint on population screening.

Bicuspid aortic valve: what should I know? Updated review of its clinical and pathophysiological aspects

“…Today, BAV is defined as the existence of two valve leaflets, although there is great individual variability with regard to the valve detailed characteristics: symmetry, presence of raphe, nature of the commissures, etc. [1][2][3] . One of the leaflets is mainly generated by the fusion or lack of separation of two of the primitive leaflets during valve development.…”

“…Bicuspid aortic valve (BAV) is the most common congenital heart disease in the general population. Far from being just a harmless valve malformation, it entails a complex and heterogeneous disease 1 . Its spectrum can consist, at its most benign extreme, of an incidental finding, remaining as a subclinical anomaly throughout life, or, at a more serious extreme, become the origin of a valve dysfunction that may be decisive for patient short-term prognosis 1 .…”

“…Far from being just a harmless valve malformation, it entails a complex and heterogeneous disease 1 . Its spectrum can consist, at its most benign extreme, of an incidental finding, remaining as a subclinical anomaly throughout life, or, at a more serious extreme, become the origin of a valve dysfunction that may be decisive for patient short-term prognosis 1 . Within this inter-individual clinical dispersion, complications in middle adulthood are known to be common, conferring a much heavier burden of morbidity than any other congenital heart disease 2 .…”

Surgical treatment of mild to moderately dilated ascending aorta in bicuspid aortic valve aortopathy: the art of safety and simplicity

“…The recent survey revealed that of all the individuals with BAV, 75% of BAV patients will be presenting aortic valve stenosis and dilation of the supra-coronary aorta, 15% aortic insufficiency and dilation of the proximal aortic root, leaving the fate of the remaining 10% undefined [1,2]. These enlist the absence or presence of raphes, if yes then numbers were noted, spatial position of cusps or raphes, and functional status of the valve [3]. Aortic valve repair avoids anticoagulation and prosthetic valverelated this could provide many advantages for patients with BAV, but the prosthetics valve replacement remains the most reliable choice of treatment [4].…”

Експресія Гену Nfatc1 У Дітей З Двостулковим Аортальним Клапаном Серця Залежно Від Наявності Клапанного Фіброзу

“…Вступ. Двостулковий аортальний клапан (ДАК) є найчастішою вродженою вадою серця, що має популяційну частоту 1-2 % [1]. За даними А. С. Шарикіна (2016) [2], ДАК слід розцінювати як серйозну серцеву ваду, що може призводити до розвитку стенозу або недостатності клапана та супроводжується розширенням кореня аорти з порушенням гемодинаміки, гіпертрофією лівого шлуночка та загрозою розшарування аорти, а не як малу аномалію серця, що не впливає на кровообіг, як вважали раніше, що потребує диспансерного спостереження за хворими, починаючи з раннього віку.…”