Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve (original) (raw)

2011, Frontiers in genetics

To determine whether the contributions of genetics and bicuspid aortic valve (BAV) independently influence aortic (Ao) dimensions. Ao dilation is a risk factor for aneurysm, dissection, and sudden cardiac death. Frequent association of BAV with Ao dilation implicates a common underlying defect possibly due to genetic factors. Families enriched for BAV underwent standardized transthoracic echocardiography. In addition to BAV status, echocardiographic measures of Ao (annulus to descending Ao), pulmonary artery, and mitral valve annulus (MVA) diameters were obtained. Using variance components analysis, heritability was estimated with and without BAV status. Additionally, bivariate genetic analyses between Ao dimensions and BAV were performed. Our cohort was obtained from 209 families enriched for BAV. After adjusting for age, body surface area, and sex, individuals with BAV had a statistically significant increase in all echocardiographic measurements (p < 0.006) except descending A...