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Review
. 2016 Dec;25(6):1171-1178.
doi: 10.1007/s10897-016-0002-6. Epub 2016 Aug 22.

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Samantha L Freeze  1 , Benjamin J Landis  1   2 , Stephanie M Ware  1   2 , Benjamin M Helm  3
Affiliations
Review

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Samantha L Freeze et al. J Genet Couns. 2016 Dec.

Abstract

Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.

Keywords: Aortic aneurysm; Aortic dissection; Congenital heart defect; Genetic counseling; LVOTO; Left ventricular outflow tract obstruction.

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Conflict of interest statement

The authors declare that they have no conflict of interest. Ethical Approval This article does not contain any studies with human participants performed by any of the authors. Informed Consent No IRB approval or informed consent was required since this review article does not involve protected health information or animal/human subjects research

Figures

Fig. 1
Fig. 1
Clinical algorithm for patients with BAV. Acronyms used in this table: CTD = connective tissue disorder(s); TAAD = thoracic aortic aneurysms/dissections; FDRs = first-degree relatives
See this image and copyright information in PMC

References

    1. Aboulhosn J, Child JS. Left ventricular outflow obstruction: subaortic stenosis, bicuspid aortic valve, supravalvar aortic stenosis, and coarctation of the aorta. Circulation. 2006;114(22):2412–2422. doi: 10.1161/CIRCULATIONAHA.105.592089. - DOI - PubMed
    1. Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, et al. An excess of deleterious variants in VEEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. American Journal of Human Genetics. 2012;91(4):646–59. - PMC - PubMed
    1. Angelini A, Ho SY, Anderson RH, Devine WA, Zuberbuhler JR, Becker AE, et al. The morphology of the normal aortic valve as compared with the aortic valve having two leaflets. The Journal of Thoracic and Cardiovascular Surgery. 1989;98(3):362–367. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2770318. - PubMed
    1. Arrington CB, Sower CT, Chuckwuk N, Stevens J, Leppert MF, Yetman AT, et al. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. The American Journal of Cardiology. 2008;102(5):629–631. doi: 10.1016/j.amjcard.2008.04.044. - DOI - PubMed
    1. Biner S, Rafique AM, Ray I, Cuk O, Siegel RJ, Tolstrup K. Aortopathy is prevalent in relatives of bicuspid aortic valve patients. Journal of the American College of Cardiology. 2009;53(24):2288–2295. doi: 10.1016/j.jacc.2009.03.027. - DOI - PMC - PubMed