Cardiovascular aspects of Noonan syndrome and related disorders.

IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI:10.1515/medgen-2025-2010
Martin Zenker, Cordula M Wolf
{"title":"Cardiovascular aspects of Noonan syndrome and related disorders.","authors":"Martin Zenker, Cordula M Wolf","doi":"10.1515/medgen-2025-2010","DOIUrl":null,"url":null,"abstract":"<p><p>Noonan syndrome and other RASopathies constitute an important group of disorders to be considered in the differential diagnosis in individuals with congenital heart defects and hypertrophic cardiomyopathy. The cardiovascular phenotype of RASopathies is complex and comprises a spectrum of abnormalities, including not only congenital defects but also abnormalities affecting the lymphovascular system and other anomalies of the vascular system, which may emerge over the course of an individual's lifetime. Affected individuals typically present with a syndromic phenotype, exhibiting additional physical symptoms outside of the cardiovascular system and neuropsychological deficits. Genetic testing of the established disease genes for RASopathies is an effective method for identifying the underlying genetic variant in the majority of cases. This approach is strongly recommended to facilitate a more precise prognosis and the potential for personalized targeted therapies. Screening for RASopathy-associated gene variants in individuals with isolated CHDs, HCM, or other isolated cardiovascular features outside the NS spectrum appears to have limited clinical utility. However, it should be noted that the RASopathy phenotype may be challenging to discern in cases of mild or oligosymptomatic involvement, or it may be obscured by the presence of severe medical conditions, particularly in very young children.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"113-124"},"PeriodicalIF":1.1000,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976402/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medizinische Genetik","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1515/medgen-2025-2010","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Noonan syndrome and other RASopathies constitute an important group of disorders to be considered in the differential diagnosis in individuals with congenital heart defects and hypertrophic cardiomyopathy. The cardiovascular phenotype of RASopathies is complex and comprises a spectrum of abnormalities, including not only congenital defects but also abnormalities affecting the lymphovascular system and other anomalies of the vascular system, which may emerge over the course of an individual's lifetime. Affected individuals typically present with a syndromic phenotype, exhibiting additional physical symptoms outside of the cardiovascular system and neuropsychological deficits. Genetic testing of the established disease genes for RASopathies is an effective method for identifying the underlying genetic variant in the majority of cases. This approach is strongly recommended to facilitate a more precise prognosis and the potential for personalized targeted therapies. Screening for RASopathy-associated gene variants in individuals with isolated CHDs, HCM, or other isolated cardiovascular features outside the NS spectrum appears to have limited clinical utility. However, it should be noted that the RASopathy phenotype may be challenging to discern in cases of mild or oligosymptomatic involvement, or it may be obscured by the presence of severe medical conditions, particularly in very young children.

努南综合征及相关疾病的心血管方面。
努南综合征和其他rasopathy构成了一个重要的疾病组,要考虑在鉴别诊断的个体先天性心脏缺陷和肥厚性心肌病。ras病变的心血管表型是复杂的,包括一系列异常,不仅包括先天性缺陷,还包括影响淋巴血管系统的异常和血管系统的其他异常,这些异常可能在个体的一生中出现。受影响的个体通常表现为综合征表型,表现出心血管系统以外的额外身体症状和神经心理缺陷。在大多数情况下,对RASopathies已确定的疾病基因进行基因检测是识别潜在遗传变异的有效方法。这种方法被强烈推荐,以促进更精确的预后和潜在的个性化靶向治疗。筛查孤立性冠心病、HCM或NS谱外其他孤立性心血管特征患者的rasopathy相关基因变异似乎具有有限的临床效用。然而,应该注意的是,在轻度或无症状受累的情况下,RASopathy表型可能难以辨别,或者可能被严重疾病的存在所掩盖,特别是在非常年幼的儿童中。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Medizinische Genetik
Medizinische Genetik GENETICS & HEREDITY-
自引率
9.10%
发文量
48
期刊介绍: medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter. medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community. In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
×
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:604180095
Book学术官方微信