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Objectives Previous studies have established familial clustering of bic uspid a ortic valve (BAV), presumably indicating genetic inheritance. Our objective was to statistically test whether the segregation pattern of BAV is consistent with genetic inheritance and to obtain an estimate of the size of the genetic effect (heritability). Background Bicuspid aortic valve occurs in 1%of the population, making it the most common cardiovascular malformation (CVM). Bicuspid aortic va lve is frequently an antecedent to aortic valve stenosis or insufficiency and is often associated with other CVMs, including aortic root dilation. The genetic a nd developmental significance of these findings remains obscure. Methods In 50 p robands with BAV, we obtained a three-generation family history and echocardiog rams on first degree relatives. Heritability (h2) of BAV and BAV and/or other CV Ms were estimated using maximum-likelihood-based variance decomposition extend ed to dichotomous traits implemented in the computer package Sequential Oligogen ic Linkage Analysis Routines (SOLAR, San Antonio, Texas). Results A total of 309 probands and relatives participated. Bicuspid aortic valve was identified in 74 individuals(prevalence=24%). A total of 97 individuals had BAV and/or other CV M(prevalence =31%), including aortic coarctation, ventricular or atrial septal defect, abnormal mitral valve, aortic root dilation, or hypoplastic left heart s yndrome. The heritability (h2) of BAV and BAV and/or other CVMs were 89%and 75 %, respectively. Conclusions The high heritability of BAV suggests that in this study population BAV determination is almost entirely genetic. The heritability of BAV plus other cardiovascular anomalies suggests that valve malformation can be primary to defective valvulogenesis or secondary to other elements of cardio genesis.
Objectives to to test whether the segregation pattern of BAV is consistent with genetic inheritance and to obtain an estimate of the size of the genetic effect (heritability). Background Bicuspid aortic valve occurs in 1% of the population, making it the most common cardiovascular malformation (CVM). Bicuspid aortic va lve is frequently an antecedent to aortic valve stenosis or insufficiency and is often associated with other CVMs, including aortic root dilation. The genetic a nd development findings for these findings remains obscure. Methods In 50 p robands with BAV, we obtained a three-generation family history and echocardiog rams on first degree relatives. Heritability (h2) of BAV and BAV and / or other CV Ms were estimated using maximum-likelihood-based variance decomposition ed to dichotomous traits implemented i Results A total of 309 probands and relatives participated. Bicuspid aortic valve was identified in 74 individuals (prevalence = 24%). A total of 97 persons had had BAV and / or other CV M (prevalence = 31%), including aortic coarctation, ventricular or atrial septal defect, abnormal mitral valve, aortic root dilation, or hypoplastic left heart s syndrome. The heritability (h2) of BAV and BAV and / Conclusions The high heritability of BAV suggests that in this study population BAV determination is almost entirely genetic. The heritability of BAV plus other cardiovascular anomalies suggests that valve malformation can be primary to defective valvulogenesis or secondary to other elements of cardio genesis.