You are currently viewing a new version of our website. To view the old version click .
Cardiogenetics
  • Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
  • Review
  • Open Access

9 February 2015

Bicuspid Aortic Valve Associated Aortopathy: A Genetic Disease

and
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.

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.

Article Metrics

Citations

Article Access Statistics

Multiple requests from the same IP address are counted as one view.