[与最常见染色体综合征相关的先天性心脏病:文献综述]。

José Eduardo Castillo Lam, Oscar Eduardo Elías Adauto, Gian Paolo Huamán Benancio
{"title":"[与最常见染色体综合征相关的先天性心脏病:文献综述]。","authors":"José Eduardo Castillo Lam,&nbsp;Oscar Eduardo Elías Adauto,&nbsp;Gian Paolo Huamán Benancio","doi":"10.47487/apcyccv.v2i3.155","DOIUrl":null,"url":null,"abstract":"<p><p>Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.</p>","PeriodicalId":72295,"journal":{"name":"Archivos Peruanos de cardiologia y cirugia cardiovascular","volume":"2 3","pages":"187-195"},"PeriodicalIF":0.0000,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/69/apcyccv-2-187.PMC10506540.pdf","citationCount":"1","resultStr":"{\"title\":\"[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].\",\"authors\":\"José Eduardo Castillo Lam,&nbsp;Oscar Eduardo Elías Adauto,&nbsp;Gian Paolo Huamán Benancio\",\"doi\":\"10.47487/apcyccv.v2i3.155\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.</p>\",\"PeriodicalId\":72295,\"journal\":{\"name\":\"Archivos Peruanos de cardiologia y cirugia cardiovascular\",\"volume\":\"2 3\",\"pages\":\"187-195\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-09-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/91/69/apcyccv-2-187.PMC10506540.pdf\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archivos Peruanos de cardiologia y cirugia cardiovascular\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47487/apcyccv.v2i3.155\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archivos Peruanos de cardiologia y cirugia cardiovascular","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47487/apcyccv.v2i3.155","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/7/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1

摘要

唐、帕托、爱德华兹、特纳和威廉姆斯等最常见的染色体综合征以各种方式影响儿科人群,先天性心脏病解释了他们生活质量的改变。目前缺乏对这些综合征中心脏异常的研究,现有的研究都是过去几十年的出版物。我们审查了MEDLINE、LILACS、SCIELO和Google Scholar等数据库,选择了可能的最佳证据,并调查了与先天性心脏病相关的每种染色体综合征,组成了五个搜索组。这篇文章展示了所综述的研究中描述的每种心脏病的特征、作者、发表日期、国家和研究人群,并简要描述了该疾病的频率及其死亡率。将本综述中描述的结果与以前的现有文献进行对比,以验证报告的频率之间是否存在对应关系。唐氏综合征患者最常见的先天性心脏病是房室间隔缺损(AVSD)、室间隔缺损(VSD)、房间隔缺损(ASD)和持续性动脉导管(PDA),帕托综合征患者为PDA、ASD和VSD,Edwards综合征为AVSD、PDA和瓣膜缺陷,Turner综合征为双叶主动脉瓣、主动脉缩窄和主动脉狭窄,Williams综合征的主动脉瓣上狭窄和肺动脉狭窄。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].

[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].

Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
0.40
自引率
0.00%
发文量
0
审稿时长
4 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信