First-degree relatives of bicuspid aortic valve patients with normal aortic dimensions do not carry an increased risk of aortic dilatation

Dayan, Víctor; Parma, Gabriel; Drever, Mariana; Straneo, Pablo; Soca, Gerardo; Cura, Leandro; Brusich, Daniel; Lluberas, Ricardo; Florio, Lucía

doi:10.1016/j.ijcard.2014.01.037

Cited by 7 publications

(5 citation statements)

References 7 publications

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“…We have previously shown that FDR of BAV patients with a normal aortic diameter have similar aortic diameters to FDR of non-BAV patients. 15 The main difference between our study and that of Biner and colleagues 4 is that we studied FDR of BAV patients without aortic dilatation. Flow-mediated vasodilation is dependent on the release of nitric oxide, 16 and a deficiency of nitric oxide synthase has been found in dilated aortas of patients with BAV.…”

Section: Discussionmentioning

confidence: 80%

“…21 These findings along with our previous data support the concept that BAV patients with and without dilated aortas probably represent different phenotypes of a polygenic disease. 15 Several genetic and molecular etiologies have been proposed for the genesis of BAV. 21–23 Some of these etiologies carry an increased risk of aortic dilatation in the BAV patient.…”

Section: Discussionmentioning

confidence: 99%

“…According to our results, FDR of BAV patients without aortic dilatation do not carry an increased risk of endothelial dysfunction, and this supports our previous findings of normal ascending aortas in this group. 15…”

Section: Discussionmentioning

confidence: 99%

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Aortic assessment of bicuspid aortic valve patients and their first-degree relatives

Straneo

Parma

Lluberas

et al. 2017

Asian Cardiovasc Thorac Ann

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Background Bicuspid aortic valve patients have an increased risk of aortic dilatation. A deficit of nitric oxide synthase has been proposed as the causative factor. No correlation between flow-mediated dilation and aortic diameter has been performed in patients with bicuspid aortic valves and normal aortic diameters. Being a hereditary disease, we compared echocardiographic features and endothelial function in these patients and their first-degree relatives. Methods Comprehensive physical examinations, routine laboratory tests, transthoracic echocardiography, and measurements of endothelium-dependent and non-dependent flow-mediated vasodilatation were performed in 18 bicuspid aortic valve patients (14 type 1 and 4 type 2) and 19 of their first-degree relatives. Results The first-degree relatives were younger (36.7 ± 18.8 vs. 50.5 ± 13.9 years, p = 0.019) with higher ejection fractions (64.6% ± 1.7% vs. 58.4% ± 9.5%, p = 0.015). Aortic diameters indexed to body surface area were similar in both groups, the except the tubular aorta which was larger in bicuspid aortic valve patients (19.3 ± 2.7 vs. 17.4 ± 2.2 mm·m, p = 0.033). Flow-dependent vasodilation was similar in both groups. A significant inverse correlation was found between non-flow-dependent vasodilation and aortic root diameter in patients with bicuspid aortic valve ( R = -0.57, p = 0.05). Conclusions Bicuspid aortic valve patients without aortopathy have larger ascending aortic diameters than their first-degree relatives. Endothelial function is similar in both groups, and there is no correlation with ascending aorta diameter. Nonetheless, an inverse correlation exists between non-endothelial-dependent dilation and aortic root diameter in bicuspid aortic valve patients.

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Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

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Aortic assessment of bicuspid aortic valve patients and their first-degree relatives

Straneo

Parma

Lluberas

et al. 2017

Asian Cardiovasc Thorac Ann

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“…The other investigators related their aortic measurements to body surface area, age and gender and derived their upper level of normal from reference populations, whereas we defined a diameter > 40 mm to be abnormal, following ESC Guidelines [10]. Furthermore, the range of percentages of isolated aortic dilatation in FDRs also appeared to be related to the range of the presence of aortopathy in the probands [17]. Dayan et al observed that the incidence of sinus of Valsalva aortopathy in FDRs (n = 74) is almost 20% when probands have any type of aortopathy (n = 49) compared with only 5% in FDRs (n = 31) of probands without aortopathy (n = 31) [18].…”

Section: Original Article Discussionmentioning

confidence: 99%

Family screening in patients with isolated bicuspid aortic valve

et al. 2021

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Aim To determine the prevalence of undiagnosed bicuspid aortic valve (BAV) and isolated aortic dilatation in first-degree relatives (FDRs) of patients with isolated BAV and to explore the recurrence risk of BAV in different subgroups of probands with BAV. Recent American College of Cardiology (ACC)/American Heart Association (AHA) Guidelines recommend family screening in patients with associated aortopathy only. Methods During follow-up visits, patients with isolated BAV received a printed invitation for their FDRs advising cardiac screening. Results From 2012–2019, 257 FDRs of 118 adult BAV patients were screened, among whom 63 (53%) index patients had undergone aortic valve surgery (AVS), including concomitant aortic replacement in 25 (21%). Of the non-operated index patients, 31 (26%) had aortic dilatation (> 40 mm). Mean age of the FDRs was 48 years (range 4–83) and 42% were male. The FDR group comprised 20 parents, 103 siblings and 134 offspring. Among these FDRs, 12 (4.7%) had a previously undiagnosed BAV and 23 (8.9%) had an isolated aortic dilatation. FDRs of the probands with previous AVS (n = 147) had a risk ratio for BAV of 2.25 (95% confidence interval (CI) 0.62–8.10). FDRs of the probands with BAV and repaired or unrepaired aortic dilatation (n = 127) had a risk ratio for BAV of 0.51 (95% CI 0.16–1.66). Conclusion Screening FDRs of patients with isolated BAV resulted in a reasonable yield of 14% new cases of BAV or isolated aortic dilatation. A trend towards an increased risk of BAV in FDRs was observed in the probands with previous AVS, whereas this risk seemed to be diminished in the probands with associated aortic dilatation. This latter finding does not support the restrictive ACC/AHA recommendation.

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“…68 In addition, in a recent study by Dayan et al among first-degree relatives of BAV patients without TAA, normal aortic dimensions were seen in all relatives with a tricuspid valve. 72 …”

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

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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.

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First-degree relatives of bicuspid aortic valve patients with normal aortic dimensions do not carry an increased risk of aortic dilatation

Cited by 7 publications

References 7 publications

Aortic assessment of bicuspid aortic valve patients and their first-degree relatives

Aortic assessment of bicuspid aortic valve patients and their first-degree relatives

Family screening in patients with isolated bicuspid aortic valve

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

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