Disha Kushtrim, Schulz Solveig, Kuntze Thomas, Girdauskas Evaldas
Department of Cardiac Surgery, Central Hospital Bad Berka, Bad Berka, Germany.
Institute of Human Genetics and Anthropology, Jena University Hospital, Jena, Germany.
Ann Thorac Surg. 2017 Jul;104(1):e19-e21. doi: 10.1016/j.athoracsur.2017.01.103.
We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation. This rare case illustrates potentially common genetic and signaling pathways of concomitant myxomatous valve disease and aortic root dilatation.
我们报告了一例因退行性黏液瘤样二尖瓣和三尖瓣疾病（巴洛病）以及主动脉根部扩张而接受手术的患者。瓣膜修复手术及术后过程均顺利。多代遗传分析显示，同一患者的转化生长因子β-2基因存在两种不同突变。不同外显子中的这两种突变分别来自父母双方。父母双方均未出现瓣膜功能障碍或主动脉根部扩张。这一罕见病例说明了黏液瘤样瓣膜疾病和主动脉根部扩张可能存在共同的遗传和信号通路。
