Population-based treated prevalence, risk factors, and outcomes of bicuspid aortic valve in a pediatric Medicaid cohort

Tripathi, Avnish; Wang, Yinding; Jerrell, Jeanette M.

doi:10.4103/apc.apc_137_17

Cited by 10 publications

(2 citation statements)

References 29 publications

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“…The robust heritability of BAV was demonstrated in studies showing that primary relatives are ten-fold more likely to have a BAV than matched controls (3). While more than 50% of individuals with BAV undergo aortic valve surgery during their lifetimes, phenotypic expression of BAV varies widely, with only approximately 10% of patients with BAV requiring aortic valve surgery in the first two decades of life (4,5).…”

Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

Mansoorshahi,

Yetman,

Bissell

et al. 2024

Preprint

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Bicuspid Aortic Valve (BAV) is the most common adult congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that early onset complications of BAV (EBAV) are driven by specific impactful genetic variants. We analyzed whole exome sequences (WES) to identify rare coding variants that contribute to BAV disease in 215 EBAV families. Predicted pathogenic variants of causal genes were present in 111 EBAV families (51% of total), including genes that cause BAV (8%) or heritable thoracic aortic disease (HTAD, 17%). After appropriate filtration, we also identified 93 variants in 26 novel genes that are associated with autosomal dominant congenital heart phenotypes, including recurrent deleterious variation ofFBN2,MYH6, channelopathy genes, and type 1 and 5 collagen genes. These findings confirm our hypothesis that unique rare genetic variants contribute to early onset complications of BAV disease.

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Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

Mansoorshahi,

Yetman,

Bissell

et al. 2024

Preprint

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“…Summary of Echocardiography Sources of Prevalence of Bicuspid Aortic Valve with total calculated 163 weighted(9,14,17,35,38,39,41,42). 164…”

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confidence: 99%

Prevalence of Bicuspid Aortic Valve: Systematic Review and Meta-Analysis of Prevalence Studies

Lester

Jeremy

2023

Preprint

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Bicuspid aortic valve (BAV) is frequently reported as the most common congenital cardiac condition, with 1-2% prevalence by citing one or two autopsy studies performed up to forty years ago. Since then, echocardiography population screening studies have reported contemporaneous results, with lower prevalence, given the absence of autopsy selection bias. Therefore, we performed a systematic review and meta-analysis of autopsy and echocardiography studies to provide a more accurate synthesis of BAV prevalence. Following a systematic literature review, we performed a meta-analysis of prevalence studies using MetaXL Software Version 5.3 by EpiGear, St Lucia, Australia. The results of 45,630 autopsy patients reveal a prevalence of 0.81% (0.5-1.2%, p<0.001, n=444) and 296,245 echocardiography screened population of 0.61% (0.39-0.82% p<0.001, n=1,392) BAV prevalence. The average prevalence of 0.61-0.81% between the two studies still shows this is a common congenital cardiac condition, but shows it is less than frequently reported and thus robustly supports the case of cost effectiveness in screening first degree relatives.

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Comprehensive MR Analysis of Cardiac Function, Aortic Hemodynamics and Left Ventricular Strain in Pediatric Cohort with Isolated Bicuspid Aortic Valve

et al. 2019

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Population-based treated prevalence, risk factors, and outcomes of bicuspid aortic valve in a pediatric Medicaid cohort

Cited by 10 publications

References 29 publications

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

Prevalence of Bicuspid Aortic Valve: Systematic Review and Meta-Analysis of Prevalence Studies

Comprehensive MR Analysis of Cardiac Function, Aortic Hemodynamics and Left Ventricular Strain in Pediatric Cohort with Isolated Bicuspid Aortic Valve

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