Hereditary patterns of bicuspid aortic valve in a hundred families

Robledo-Carmona, Juan; Rodríguez–Bailón, Isabel; Carrasco-Chinchilla, Fernando; Fernández, Borja; Jiménez-Navarro, Manuel F.; Porras, Carlos; Montiel-Trujillo, Angel; García‐Pinilla, José Manuel; Such-Martínez, Miguel; Teresa–Galván, Eduardo de

doi:10.1016/j.ijcard.2013.04.180

Cited by 37 publications

(30 citation statements)

References 43 publications

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“…pediatric patients with/without additional congenital cardiac defects versus adult index patients). Furthermore, the prevalence of (familial) BAV might differ between geographical regions as suggested by Robledo-Carmona et al 68 In all studies, the importance of screen- ing in first-degree relatives of BAV patients was underlined by the authors. One study addressed the cost-effectiveness of cardiological screening in siblings of children with BAV.…”

Section: Discussionmentioning

confidence: 95%

“…28,70,71 In the large study by RobledoCarmona et al only mild aortic dilatation (<4 cm) at older age (>50 years), was observed among nine out of 270 first degree relatives with a TAV, comparable to the observations in the control cohort. 68 They concluded that if their findings are confirmed by other studies, echocardiographic follow up of the aortic dimensions of TAV first-degree relatives might not be necessary. 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.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 88%

“…68 They concluded that if their findings are confirmed by other studies, echocardiographic follow up of the aortic dimensions of TAV first-degree relatives might not be necessary. 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: 88%

“…The results of these studies are summarized in Table 1. 26,28,41,42,54,61,[65][66][67][68][69] In 5.8-47.7% of the families BAV was shown to be familial (defined as BAV diagnosed in at least one first degree relative of the index patient). Of the screened first-degree relatives of BAV patients 1.8-11% was found to be affected with BAV.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

“…3,13,20,24,[31][32][33] The other studies reported percentages of TAA in the first-degree TAV relatives of 3-4%. 54,[65][66][67][68] This is around population risk since 2.3% of the general population, by definition, is expected to have z scores >2. 28,70,71 In the large study by RobledoCarmona et al only mild aortic dilatation (<4 cm) at older age (>50 years), was observed among nine out of 270 first degree relatives with a TAV, comparable to the observations in the control cohort.…”

Section: Bicuspid Aortic Valve: Clinical and Genetic Aspectsmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 95%