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本文介绍 95例先天性心脏病 (简称先心病 )情况 :发病年龄 :出生即有发病者 ,占 62 1% ,1 2岁发病者占2 3 16% ,2岁以后发病者占 17 74% ,发病年龄最大者 7岁。临床特点是均有不同程度的发绀、气促、心悸、胸前相应区域可闻及Ⅲ、Ⅳ级病理性杂音 ,病解形态异常按发生率高低顺位为室间隔缺损、法乐氏综合征、房间隔缺损、动脉导管未闭。情况反馈中获悉 3例法四联症死于心力衰竭并发肺部感染 ,占 3 16%。另外本组病例中 ,合并有智力低下者 8例 ,其中有 6例有 2 1 三体的特殊面容 ,经外周血染色体核型检查 ,证实为 2 1 三体。根据以上情况提出 :(1)本组先心病解剖异常发生率的顺位与文献报道不一致[1] ,需进一步研究。 (2 )先心病人只要有并发症 ,有心力哀竭 ,生存期不会很长。我们要积极地进行遗传资源的采集与保护 ;(3)现在有文献报道[4 ] ,先心病基因定位在 2 2 q11,是否存在另外的致病基因 ,或相关基因 ,特别是否与 2 1 三体是否会有共同致病基因 ,需进一步研究。
This article describes 95 cases of congenital heart disease (referred to as congenital heart disease) situation: age of onset: there is the incidence of birth, accounting for 62 1%, accounting for 2 3 16% of patients at the age of 2 years, accounting for 17 74% of patients after the age of 2, The age of onset is 7 years old. The clinical features are all with different degrees of cyanosis, shortness of breath, heart palpitations, can be heard in the corresponding area of the chest and III, IV grade pathological murmur, abnormal morbidity according to the incidence rate of ventricular septal defect, the Falter’s syndrome Atrial septal defect, patent ductus arteriosus. In the case feedback, it was learned that 3 cases of tetralogy died of heart failure complicated by pulmonary infection, accounting for 316%. In addition, in this group of cases, there were 8 cases with mental retardation, of which 6 cases had a special face of 21 trisomy. The karyotype examination of peripheral blood confirmed the trisomy 21. According to the above situation, it is proposed that: (1) The incidence of anatomical abnormalities of congenital heart disease in this group is inconsistent with the literature reports[1] and needs further study. (2) As long as the congenital heart patient has complications and has heart grief, the survival period will not be long. We must actively carry out the collection and protection of genetic resources; (3) There are reports in the literature [4] that the congenital heart disease gene is located in 22 q11, whether there are other pathogenic genes, or related genes, especially whether it is related to Whether the body will have a common pathogenic gene needs further study.