一名努南表型患者的冠状动脉病变:病例报告。

IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
Annals of Pediatric Cardiology Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI:10.4103/apc.apc_145_23
Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar
{"title":"一名努南表型患者的冠状动脉病变:病例报告。","authors":"Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar","doi":"10.4103/apc.apc_145_23","DOIUrl":null,"url":null,"abstract":"<p><p>Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.</p>","PeriodicalId":8026,"journal":{"name":"Annals of Pediatric Cardiology","volume":"17 1","pages":"70-73"},"PeriodicalIF":0.9000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198933/pdf/","citationCount":"0","resultStr":"{\"title\":\"Coronary arteriopathy in a patient with Noonan phenotype: Case report.\",\"authors\":\"Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar\",\"doi\":\"10.4103/apc.apc_145_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.</p>\",\"PeriodicalId\":8026,\"journal\":{\"name\":\"Annals of Pediatric Cardiology\",\"volume\":\"17 1\",\"pages\":\"70-73\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11198933/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Pediatric Cardiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/apc.apc_145_23\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Pediatric Cardiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/apc.apc_145_23","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/24 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0

摘要

努南综合征(NS)是一种多形性遗传疾病。高达 50-80% 的患者伴有先天性心脏病。NS的心脏疾病范围因基因突变而异。最常见的心脏缺陷包括肺动脉狭窄、肥厚型心肌病(HCM)、房间隔缺损和左侧病变。在罕见的血管畸形中,除了瓦尔萨尔瓦窦动脉瘤、主动脉夹层和颅内动脉瘤外,关于冠状动脉病变的病例报告寥寥无几。本病例报告了一例罕见的无症状冠状动脉动脉瘤病例,患者为一名患有 NS 的年轻男性。目前还没有统一的方案来筛查、诊断、治疗和随访 NS 患者的冠状动脉疾病。我们的结论是,在大多数儿童病例中,超声心动图检查就足够了。但对于成人或怀疑有其他病变时,则应进行 CT 扫描。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coronary arteriopathy in a patient with Noonan phenotype: Case report.

Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.

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
Annals of Pediatric Cardiology
Annals of Pediatric Cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
1.40
自引率
14.30%
发文量
51
审稿时长
23 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