Kawahara Yu, Suzuki Kotarou, Takahara Shingo, Fukasawa Manabu
Yamagata Prefectural Central Hospital, 1800 Aoyagi, Yamagata, Yamagata, Japan,
Gen Thorac Cardiovasc Surg. 2014 Sep;62(9):567-9. doi: 10.1007/s11748-013-0270-0. Epub 2013 May 26.
We reported the case of unicuspid aortic valve in sibling, suggesting the familial incidence and genetic relation. A 41-year-old man (elder brother) with 79 mmHg of aortic valvular peak pressure gradient (peak PG) underwent aortic valve replacement with mechanical prosthetic valve (ATS 21 mm). The intraoperative finding showed the unicuspid aortic valve with one rudimentary commissure. A 37-year-old woman (sister) had been followed by echocardiography as bicuspid aortic valve since 10 years old. After 27 years, the peak PG had increased to 176 mmHg on preoperative echocardiography. The aortic valve replacement was performed. The bioprosthetic valve (MOSAIC 21 mm) was implanted supra-annularly because the patient required pregnancy. The intraoperative finding showed the unicuspid aortic valve with two rudimentary commissures and one opening of LCC-RCC commissure. The histopathological study of both patients confirmed as congenitally unicuspid aortic valve. In our best knowledge, this is a first report of unicuspid aortic valve in sibling.
我们报告了一对同胞兄妹患单叶主动脉瓣的病例，提示存在家族发病率及遗传关系。一名41岁男性（哥哥），主动脉瓣峰值压力阶差（峰值PG）为79mmHg，接受了机械人工瓣膜（ATS 21mm）置换主动脉瓣手术。术中发现为单叶主动脉瓣，有一个发育不全的瓣叶联合。一名37岁女性（妹妹）自10岁起因二尖瓣型主动脉瓣接受超声心动图随访。27年后，术前超声心动图显示峰值PG增至176mmHg。遂行主动脉瓣置换术。因患者有妊娠需求，故植入了超环上生物人工瓣膜（MOSAIC 21mm）。术中发现为单叶主动脉瓣，有两个发育不全的瓣叶联合以及一个左冠瓣-右冠瓣联合开口。两名患者的组织病理学研究均证实为先天性单叶主动脉瓣。据我们所知，这是首例关于同胞兄妹患单叶主动脉瓣的报告。
