Predictors of Bicuspid Aortic Valve–Associated Aortopathy in Childhood

Abstract

Background: Bicuspid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the population. It is associated with ascending aorta dilatation. Valve morphology, aortic stenosis (AS), and aortic insufficiency (AI) have been proposed as potential risk factors; however, evaluating their role is difficult, as these factors are inherently related. The aim of this study was to determine whether BAV morphology and dysfunction are independent determinants for ascending aorta dilatation in pediatric patients. Methods: A multicenter, retrospective, cross-sectional study of pediatric BAV patients followed since 2004 was performed. Imaging data were assessed for BAV morphology, severity of AS and AI, history of coarctation, and aortic dimensions. Associations were determined using multivariable regression analysis. A subset of patients undergoing aortic interventions (balloon dilation or Ross) were assessed longitudinally. Results: Data were obtained from 2122 patients (68% male; median age 10.2 years). Fifty percent of patients had ascending aorta dilatation. Right and noncoronary cusp fusion, increasing AS and AI, and older age were independently associated with ascending aorta dilatation. A history of coarctation was associated with less ascending aorta dilatation. In patients with neither AS nor AI, 37% had ascending aorta dilatation (4% severe). No complications related to aortic dilatation occurred in this cohort. Aortic Z scores were determined, and a Z -score calculator was created for this population. Conclusions: In this large pediatric cohort of patients with BAV, valve morphology, AS, and AI are independently associated with ascending aorta dilatation, suggesting that hemodynamic factors influence aortopathy. However, even in BAVs with no AS or AI, there is significant ascending aorta dilatation independent of valve morphology. Interventions that led to changes in degree of AI and AS did not seem to influence change in aortic dimensions. The current BAV cohort can be used as a reference group for expected changes in aortic dimensions during childhood.

Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease

“… 49 , 50 , 57 Also notable is the report that pediatric individuals with BAV can exhibit aorta dilation early in life, even during fetal development, supporting a developmental etiology for BAV-associated aortopathy. 58 , 59 Consistent with this, various studies have shown aortopathy can occur independent of hemodynamic disturbances (Dumitrascu-Biris et al, British Congenital Cardiac Association Annual Meeting, 2019). 58 , 60 , 61 Nevertheless, a study of pediatric individuals with BAV showed aortic stenosis and aortic insufficiency are independently associated with aorta dilation, suggesting the involvement of hemodynamic factors.…”

“… 58 , 60 , 61 Nevertheless, a study of pediatric individuals with BAV showed aortic stenosis and aortic insufficiency are independently associated with aorta dilation, suggesting the involvement of hemodynamic factors. 58 Based on our findings, we propose PCDHA deficiency may contribute to aortopathy risk via the disruption of cell-cell adhesion and enhanced EMT, processes that could be exacerbated by altered hemodynamics.…”

Bicuspid Aortic Valve in Children and Adolescents: A Comprehensive Review

“…In a large multicentre retrospective study (MIBAVA Consortium) involving more than 2000 children with BAV (mean age 10.2 years), the most common morphology was R-L fusion (65.7%), followed by R-N fusion (32.9%) [ 15 ]. BAV morphology has been related to the progression of valve dysfunction or aortic dilation and to the association with additional CHD [ 4 ].…”

Arterial Hypertension in Aortic Valve Stenosis: A Critical Update

“…AS is a very common valve disease, affecting between 2% and 4% of adults over the age of 65, and is associated with high mortality once it becomes symptomatic [ 1 ]. While tricuspid aortic valve degeneration is the most prevalent cause of AS in older individuals, bicuspid aortic valve degeneration is the most common cause of AS in younger people, with AS being one of the key determinants of ascending aortic dilatation in those patients [ 6 , 7 ]. HT has a high prevalence among patients with AS, leading to worse LV remodeling and faster degeneration and calcification of the valve [ 3 ].…”

“…Treatment of HT in AS does not have clear guidelines available, but consensus documents have been developed to give guidance to clinicians [ 7 ].…”