A rare autosomal dominant syndrome with craniofacial dysmorphisms, skeletal abnormalities, short stature, and congenital heart defects has recently been described, associated with monoallelic truncating and frameshift bone morphogenetic protein 2 (BMP2) variants and deletions. We describe a patient harboring a novel de novo BMP2 nonsense variant, who exhibited craniofacial and skeletal features previously described for this trait and the novel findings of bicuspid aortic valve (BAV) and aortic root and ascending aortic aneurysm. This first instance of aortic valve involvement provides another potential cause of BAV and confirms the role of BMP2 in left ventricular outflow development.

中文翻译：

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新发现的二叶主动脉瓣新发现的致病性 BMP2 变异相关表型

最近描述了一种罕见的常染色体显性遗传综合征，伴有颅面畸形、骨骼异常、身材矮小和先天性心脏缺陷，与单等位基因截断和移码骨形态发生蛋白 2 ( BMP2 ) 变异和缺失有关。我们描述了一名携带新的从头 BMP2无意义变体的患者，该患者表现出先前针对该特征描述的颅面和骨骼特征以及二叶主动脉瓣 (BAV) 和主动脉根部和升主动脉瘤的新发现。主动脉瓣受累的第一个实例提供了 BAV 的另一个潜在原因，并证实了 BMP2 在左心室流出道发展中的作用。