Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve

Martin, Lisa J.; Hinton, Robert B.; Zhang, Xue; Cripe, Linda H.; Benson, D. Woodrow

doi:10.3389/fgene.2011.00061

Cited by 26 publications

(18 citation statements)

References 52 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The difference in AoIMT seen between the BAV and TAV groups could be explained mainly by a difference in age. Although impairments of elastic properties of the descending aorta have been identified in patients with a BAV [9], [11], it seems not associated with dilatation or altered AoIMT in this aortic segment as shown in our study and by others [10]. Although the main focus of this study was the descending aorta, it can be mentioned that histological analysis of the ascending aorta in patients with BAV and AscAA have shown less thinning of IMT [25] and fewer intimal changes [26] compared with patients with a TAV and AscAA.…”

Section: Discussionsupporting

confidence: 68%

Intima-media thickness of the descending aorta in patients with bicuspid aortic valve

Petrini

Yousry

Eriksson

et al. 2016

IJC Heart & Vasculature

View full text Add to dashboard Cite

ObjectiveA bicuspid aortic valve (BAV) is associated with accelerated aortic valve disease (AVD) and abnormalities in aortic elasticity. We investigated the intima-media thickness of the descending aorta (AoIMT) in patients with AVD with or without an ascending aortic aneurysm (AscAA), in relation to BAV versus tricuspid aortic valve (TAV) phenotype, type of valve disease, cardiovascular risk factors, and single-nucleotide polymorphisms (SNPs) with a known association with carotid IMT.Methods and results368 patients (210 with BAV, 158 with TAV,); mean age 64 ± 13 years) were examined using transesophageal echocardiography (TEE) before valvular and/or aortic surgery. No patient had a coronary disease (CAD). The AoIMT was measured on short-axis TEE images of the descending aorta using a semi-automated edge-detection technique. AoIMT was univariately (P < 0.05) related to age, blood pressure, smoking, creatinine, highly sensitive C-reactive protein, HDL, valve hemodynamics and BAV. In the TAV subgroup it was also associated with the rs200991 SNP. Using multivariate regression analysis, age was the main determinant for AoIMT (P < 0.001), followed by male gender (P = 0.02), BAV was no longer a significant predictor of AoIMT. AoIMT was still related to the rs200991 SNP in TAV (P = 0.034), and to creatinine in BAV (P = 0.019), when other variables were accounted for.ConclusionsIntima-media thickness of the descending aorta is not affected by aortic valve morphology (BAV/TAV); age is the main determinant of AoIMT. Genetic markers (SNPs) known to influence IMT in the carotid artery seem to correlate to IMT in the descending aorta only in patients with TAV.

show abstract

Section: Discussionsupporting

confidence: 68%

Intima-media thickness of the descending aorta in patients with bicuspid aortic valve

Petrini

Yousry

Eriksson

et al. 2016

IJC Heart & Vasculature

View full text Add to dashboard Cite

show abstract

“…Individual II-11 has an abnormal aortic valve that did not meet BAV criteria but was heterozygous at the same three loci ( Figure 4) as individuals with BAV. Individual II-7 who had dilated aorta, which is frequently associated with BAV, 14 carried the minor allele for the 2 variants on chromosome 9. However, individual III-4, who has an atrioventricular septal defect did not carry any of the minor alleles.…”

Section: Effect Of Phenotype Definition On Variant Discoverymentioning

confidence: 99%

“…Given the known differences between development of the AV canal and the formation of semilunar valves, this is not surprising. However, an individual with dilated aorta, which is frequently associated with BAV, 14 carried the minor allele for 2 of the 3 variants. These results in combination with the success of WES for Mendelian traits [32][33][34][35][36] suggest that stringent criteria for phenotype definition is essential.…”

Section: Broadening Of the Phenotype Alters Findingsmentioning

confidence: 99%

Whole Exome Sequencing for Familial Bicuspid Aortic Valve Identifies Putative Variants

Martin

Pilipenko

Kaufman

et al. 2014

Circ Cardiovasc Genet

Self Cite

View full text Add to dashboard Cite

Background-Bicuspid aortic valve (BAV) is the most common congenital cardiovascular malformation. Although highly heritable, few causal variants have been identified. The purpose of this study was to identify genetic variants underlying BAV by whole exome sequencing a multiplex BAV kindred. Methods and Results-Whole exome sequencing was performed on 17 individuals from a single family (BAV=3; other cardiovascular malformation, 3). Postvariant calling error control metrics were established after examining the relationship between Mendelian inheritance error rate and coverage, quality score, and call rate. To determine the most effective approach to identifying susceptibility variants from among 54 674 variants passing error control metrics, we evaluated 3 variant selection strategies frequently used in whole exome sequencing studies plus extended family linkage.No putative rare, high-effect variants were identified in all affected but no unaffected individuals. Eight high-effect variants were identified by ≥2 of the commonly used selection strategies; however, these were either common in the general population (>10%) or present in the majority of the unaffected family members. However, using extended family linkage, 3 synonymous variants were identified; all 3 variants were identified by at least one other strategy. Conclusions-These results suggest that traditional whole exome sequencing approaches, which assume causal variants alter coding sense, may be insufficient for BAV and other complex traits. Identification of disease-associated variants is facilitated by the use of segregation within families. (Circ Cardiovasc Genet. 2014;7:677-683.)

show abstract

“…21,32,59,60 Martin et al performed bivariate genetic analyses between aortic dimensions and BAV. Their results did not support a shared underlying genetic basis for BAV and aortic measures.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

“…Their results did not support a shared underlying genetic basis for BAV and aortic measures. 60 However, Loscalzo et al conclude that BAV and TAA might be independent manifestations of a single gene defect with an autosomal dominant pattern of inheritance with incomplete penetrance. They studied segregation of BAV and TAA in 13 TAA families referred for analysis of known aneurysm, dissection or rupture.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

et al. 2015

View full text Add to dashboard Cite

Bicuspid aortic valve (BAV) is the most common congenital cardiac defect causing serious morbidity including valvular dysfunction and thoracic aortic aneurysms (TAA) in around 30% of BAV patients. Cardiological screening of first-degree relatives is advised in recent guidelines given the observed familial clustering of BAV. However, guidelines regarding screening of family members and DNA testing are not unequivocal. The aim of this review is to provide an overview of the literature on echocardiographic screening in first-degree relatives of BAV patients and to propose a model for family screening. In addition, we provide a flowchart for DNA testing. We performed a PubMed search and included studies providing data on echocardiographic screening in asymptomatic relatives of BAV patients. Nine studies were included. In 5.8-47.4% of the families BAV was shown to be familial. Of the screened first-degree relatives 1.8-11% was found to be affected with BAV. Results regarding a potential risk of TAA in first-degree relatives with a tricuspid aortic valve (TAV) were conflicting. The reported familial clustering of BAV underlines the importance of cardiological screening in relatives. After reviewing the available family history, patient characteristics and the results of cardiological screening in relatives, follow-up in relatives with a TAV and/or DNA testing may be advised in a subset of families. In this study we propose a model for the clinical and genetic work-up in BAV families, based on the most extensive literature review on family screening performed until now.

show abstract

Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve

Cited by 26 publications

References 52 publications

Intima-media thickness of the descending aorta in patients with bicuspid aortic valve

Intima-media thickness of the descending aorta in patients with bicuspid aortic valve

Whole Exome Sequencing for Familial Bicuspid Aortic Valve Identifies Putative Variants

Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature

Contact Info

Product

Resources

About