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 ...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.展开更多
临床资料患者,女,47岁,因＂胸闷6年＂入院。患者6年前无明显诱因出现胸闷,活动后加重,偶有夜间入睡后胸闷憋醒,近半年来症状加重。入院查体：体温36.3℃,脉搏76次/分,呼吸18次/分,血压106/72 mm Hg,面容正常,双肺呼吸音稍粗,未闻及干湿...临床资料患者,女,47岁,因＂胸闷6年＂入院。患者6年前无明显诱因出现胸闷,活动后加重,偶有夜间入睡后胸闷憋醒,近半年来症状加重。入院查体：体温36.3℃,脉搏76次/分,呼吸18次/分,血压106/72 mm Hg,面容正常,双肺呼吸音稍粗,未闻及干湿性啰音,心率76次/分,律齐,胸骨左缘第2~4肋间闻及柔和的舒张期杂音,肝脏肋下4 cm,展开更多
文摘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.
文摘临床资料患者,女,47岁,因＂胸闷6年＂入院。患者6年前无明显诱因出现胸闷,活动后加重,偶有夜间入睡后胸闷憋醒,近半年来症状加重。入院查体：体温36.3℃,脉搏76次/分,呼吸18次/分,血压106/72 mm Hg,面容正常,双肺呼吸音稍粗,未闻及干湿性啰音,心率76次/分,律齐,胸骨左缘第2~4肋间闻及柔和的舒张期杂音,肝脏肋下4 cm,
