Bicuspid Aortic Valve in Children and Adolescents: A Comprehensive Review

Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart defect. Prevalence of isolated BAV in the general pediatric population is about 0.8%, but it has been reported to be as high as 85% in patients with aortic coarctation. A genetic basis has been recognized, with great heterogeneity. Standard BAV terminology, recently proposed on the basis of morpho-functional assessment by transthoracic echocardiography, may be applied also to the pediatric population. Apart from neonatal stenotic BAV, progression of valve dysfunction and/or of the associated aortic dilation seems to be slow during pediatric age and complications are reported to be much rarer in comparison with adults. When required, because of severe BAV dysfunction, surgery is most often the therapeutic choice; however, the ideal initial approach to treat severe aortic stenosis in children or adolescents is not completely defined yet, and a percutaneous approach may be considered in selected cases as a palliative option in order to postpone surgery. A comprehensive and tailored evaluation is needed to define the right intervals for cardiologic evaluation, indications for sport activity and the right timing for intervention.

Somatic GATA4 mutation contributes to tetralogy of Fallot

“…Congenital heart disease is hypothesized to be the most prevalent type of birth anomaly in humans, occurring in ~1/100 live newborns and 10/100 early miscarriages worldwide ( 1 , 2 ). If minor cardiovascular developmental abnormalities are included, such as aortic bicuspid valve, which represents the most frequent congenital heart deformity with a prevalence of ~1% in the general pediatric population ( 3 ), the total prevalence of congenital heart defects is up to 5% in live newborns ( 4 ). As a global pediatric concern, congenital heart defects comprise a wide spectrum of cardiovascular developmental defects, which are categorized into >25 distinct clinical subtypes, including tetralogy of Fallot (TOF) ( 1 ).…”

Aortic Dilatation in Pediatric Patients with Bicuspid Aortic Valve: How the Choice of Nomograms May Change Prevalence

“…Bicuspid aortic valve (BAV) is the most common congenital valve disease [ 1 , 2 ]. The association with a mild aortic dilation (AoD), mostly at the level of proximal ascending aorta, is common, while a minority presents a significant dilation or aortic aneurysm [ 1 , 2 ].…”

“…Bicuspid aortic valve (BAV) is the most common congenital valve disease [ 1 , 2 ]. The association with a mild aortic dilation (AoD), mostly at the level of proximal ascending aorta, is common, while a minority presents a significant dilation or aortic aneurysm [ 1 , 2 ]. Valve morphology, presence and severity of valve dysfunction, flow abnormalities, and genetic predisposition have been suggested as drivers of dilation [ 3 , 4 , 5 , 6 ].…”

“…There is a limited number of reports concerning the prevalence and progression of AoD in the pediatric population and data are not easily comparable because of different demographic and anthropometric characteristics [ 2 , 3 , 7 ].…”

The Importance of Aortic Valve Bicuspid Phenotype in Valvular Evolution in Pediatric Patients: A Case Report and Literature Mini-Review

“…Bicuspidy of the aortic valve (BAV) is the most common congenital malformation in the pediatric population, with a prevalence of almost 0.8% in young adults [ 1 ]. It is known that BAV leads to earlier degenerative changes of the aortic leaflets and is associated with aortopathies such as dilatation (with a Z score above 2) and, in severe cases, dissection of the aorta in young adults [ 2 , 3 ].…”