先天性耳聋、动脉导管未闭、艾森曼格综合征和差异性发绀的家族聚集性：一例报告。
Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis: A case report.
作者信息
Lin Ting-Wei, Tseng Chih-Wei, Huang Chi-Yao, Wang Kuo-Yang, Liang Kae-Woei
机构信息
Cardiovascular Center, Taichung Veterans General Hospital, Taichung Department of Medicine, Cardiovascular Research Center, National Yang Ming University, School of Medicine, Taipei Cishan Hospital, Ministry of Health and Welfare, Kaohsiung Department of Medicine, Chung Shan Medical University Department of Medicine, China Medical University, Taichung, Taiwan.
出版信息
Medicine (Baltimore). 2017 Jun;96(24):e7105. doi: 10.1097/MD.0000000000007105.
RATIONALE
Few studies had reported syndromes that include patent ductus arteriosus (PDA) with Eisenmenger syndrome and congenital deafness clustered in male siblings without facial, skeletal, or mental abnormalities.
PATIENT CONCERNS
Two brothers, who were deaf and had PDA with Eisenmenger complex, were first seen at our Cardiology clinic at the ages of 25 and 41, respectively. They presented with progressive dyspnea on exertion. Upon physical examination, both brothers had clubbing and/or cyanotic toes, normal fingers, and without facial, skeletal, ophthalmological, or mental abnormalities.
DIAGNOSES AND INTERVENTIONS
Echocardiography and multidetector computed tomography revealed large PDAs in both brothers. Cardiac catheterization showed bidirectional shunting via the PDA.
OUTCOMES AND LESSONS
Familial clustering of Eisenmenger PDA and congenital deafness is rare. Further studies are warranted to define possible genetic links.
理论依据
很少有研究报道过包括动脉导管未闭（PDA）合并艾森曼格综合征及先天性耳聋，且无面部、骨骼或智力异常的男性同胞聚集性综合征。
患者情况
两名患有耳聋及PDA合并艾森曼格综合征的兄弟分别于25岁和41岁时首次到我们的心脏病诊所就诊。他们均表现为进行性劳力性呼吸困难。体格检查发现，两兄弟均有杵状指和/或发绀的脚趾，手指正常，且无面部、骨骼、眼科或智力异常。
诊断与干预
超声心动图和多排螺旋计算机断层扫描显示两兄弟均有大型PDA。心导管检查显示通过PDA存在双向分流。
结果与经验教训
艾森曼格PDA和先天性耳聋的家族聚集性很罕见。有必要进行进一步研究以确定可能的遗传联系。
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