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Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease?
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Review

Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease

1
Harvard Medical School, Boston, MA, USA
2
Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
*
Author to whom correspondence should be addressed.
Cardiogenetics 2014, 4(1), 4857; https://doi.org/10.4081/cardiogenetics.2014.4857
Submission received: 3 December 2014 / Accepted: 2 February 2015 / Published: 9 February 2015

Abstract

As the most common congenital heart defect, understanding the etiology and progression of aortopathy in bicuspid aortic valve (BAV) is imperative to management of patients with BAV. A reasonable hypothesis, based on the strength of evidence for both genetic and hemodynamic causes of BAV-associated thoracic aortic disease (TAD), is that BAV is caused by genetic variant(s) that also predispose to TAD by a common mechanism; presumably by cell-signaling resulting in an embryologic defect that causes BAV and a postnatal risk of TAD that is accentuated by hemodynamic stress of abnormal flow through the BAV valve. Clinical heterogeneity seen in BAVassociated TAD is likely due to individual genetic variation and the severity of hemodynamic alteration.
Keywords: aortic valve; aorta; aneurysm; genetic; cardiac neural crest aortic valve; aorta; aneurysm; genetic; cardiac neural crest

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MDPI and ACS Style

Minero, G.; Body, S.C. Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease. Cardiogenetics 2014, 4, 4857. https://doi.org/10.4081/cardiogenetics.2014.4857

AMA Style

Minero G, Body SC. Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease. Cardiogenetics. 2014; 4(1):4857. https://doi.org/10.4081/cardiogenetics.2014.4857

Chicago/Turabian Style

Minero, Gibran, and Simon C. Body. 2014. "Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease" Cardiogenetics 4, no. 1: 4857. https://doi.org/10.4081/cardiogenetics.2014.4857

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