Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of infective endocarditis and aortic dissection. Loss of function mutations in NOTCH1 (OMIM 190198) has previously been associated with congenital heart disease involving the aortic valve, left ventricle outflow tract, and mitral valve that segregates in affected pedigrees as an autosomal dominant trait with variable expressivity.

中文翻译：

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一个患有二叶主动脉瓣、室间隔缺损、胸主动脉瘤和主动脉瓣狭窄的家族中的 NOTCH1 新的功能丧失突变。

二尖瓣主动脉瓣是一般人群中最常见的先天性心脏瓣膜缺陷。由于瓣膜衰竭、胸主动脉瘤的形成以及感染性心内膜炎和主动脉夹层的风险增加，BAV 与显着的发病率相关。NOTCH1 (OMIM 190198) 中的功能丧失突变以前与涉及主动脉瓣、左心室流出道和二尖瓣的先天性心脏病有关，这些疾病在受影响的谱系中作为常染色体显性特征分离，具有可变的表现力。