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Cardiogenetics
Volume 5
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10.4081/cardiogenetics.2015.4842
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Review

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

by
Hubert Baars
1,2,3,*,
Eline Overwater
4,5,
Marieke Baars
4,
Barbara Mulder
6,
Wilhelmina Kerstjens-Frederikse
7,
Klaartje van Engelen
5 and
Arjan Houweling
5
1
Department of Cardiology, Bergman Clinics, Bilthoven, The Netherlands
2
Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands
3
Department of Cardiology, TweeSteden Hospital, Tilburg, The Netherlands
4
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
5
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
6
Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
7
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
*
Author to whom correspondence should be addressed.
Cardiogenetics 2015, 5(1), 4842; https://doi.org/10.4081/cardiogenetics.2015.4842
Submission received: 26 November 2014 / Revised: 26 November 2014 / Accepted: 21 January 2015 / Published: 30 April 2015

Abstract

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.
Keywords: bicuspid aortic valve; thoracic aortic aneurysm; genetics; family screening bicuspid aortic valve; thoracic aortic aneurysm; genetics; family screening

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MDPI and ACS Style

Baars, H.; Overwater, E.; Baars, M.; Mulder, B.; Kerstjens-Frederikse, W.; van Engelen, K.; Houweling, A. Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature. Cardiogenetics 2015, 5, 4842. https://doi.org/10.4081/cardiogenetics.2015.4842

AMA Style

Baars H, Overwater E, Baars M, Mulder B, Kerstjens-Frederikse W, van Engelen K, Houweling A. Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature. Cardiogenetics. 2015; 5(1):4842. https://doi.org/10.4081/cardiogenetics.2015.4842

Chicago/Turabian Style

Baars, Hubert, Eline Overwater, Marieke Baars, Barbara Mulder, Wilhelmina Kerstjens-Frederikse, Klaartje van Engelen, and Arjan Houweling. 2015. "Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature" Cardiogenetics 5, no. 1: 4842. https://doi.org/10.4081/cardiogenetics.2015.4842

APA Style

Baars, H., Overwater, E., Baars, M., Mulder, B., Kerstjens-Frederikse, W., van Engelen, K., & Houweling, A. (2015). Clinical and Genetic Aspects of Bicuspid Aortic Valve: A Proposed Model for Family Screening Based on a Review of Literature. Cardiogenetics, 5(1), 4842. https://doi.org/10.4081/cardiogenetics.2015.4842

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