An essential role for cilia in the pathogenesis of congenital heart disease (CHD) has emerged from findings of a large-scale mouse forward genetic screen. High throughput screening with fetal ultrasound imaging followed by whole exome sequencing analysis recovered a preponderance of cilia related genes and cilia transduced cell signaling genes among mutations identified to cause CHD. The perturbation of left-right patterning in CHD pathogenesis is suggested by the association of CHD with heterotaxy, but also by the finding of the co-occurrence of laterality defects with CHD in birth defect registries. Many of the cilia and cilia cell signaling genes recovered were found to be related to Hedgehog signaling. Studies in mice showed cilia transduced hedgehog signaling coordinates left-right patterning with heart looping and differentiation of the heart tube. Cilia transduced Shh signaling also regulates later events in heart development, including outflow tract septation and formation of the atrioventricular septum. More recent work has shown mutations in cilia related genes may also contribute to valve disease that largely manifest in adult life. Overall, these and other findings show cilia play an important role in CHD and also in more common valve diseases.

纤毛在先天性心脏病 (CHD) 发病机制中的重要作用已从大规模小鼠正向遗传筛选的发现中显现出来。通过胎儿超声成像进行高通量筛查，然后进行全外显子组测序分析，在确定导致 CHD 的突变中恢复了纤毛相关基因和纤毛转导细胞信号基因的优势。CHD 发病机制中左右模式的扰动表明 CHD 与异位性的关联，但也通过在出生缺陷登记处发现 CHD 与侧向性缺陷同时发生。发现许多恢复的纤毛和纤毛细胞信号基因与 Hedgehog 信号有关。对小鼠的研究表明，纤毛转导的刺猬信号协调左右模式与心脏循环和心管分化。纤毛转导的 Shh 信号还调节心脏发育的后期事件，包括流出道分隔和房室间隔的形成。最近的研究表明，纤毛相关基因的突变也可能导致瓣膜疾病，这种疾病主要体现在成人生活中。总体而言，这些和其他研究结果表明纤毛在 CHD 和更常见的瓣膜疾病中起重要作用。最近的研究表明，纤毛相关基因的突变也可能导致瓣膜疾病，这种疾病主要体现在成人生活中。总体而言，这些和其他研究结果表明纤毛在 CHD 和更常见的瓣膜疾病中起重要作用。最近的研究表明，纤毛相关基因的突变也可能导致瓣膜疾病，这种疾病主要体现在成人生活中。总体而言，这些和其他研究结果表明纤毛在 CHD 和更常见的瓣膜疾病中起重要作用。