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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\u2019s 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.<\/jats:p>","DOI":"10.1515\/medgen-2025-2010","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T05:09:09Z","timestamp":1744088949000},"page":"113-124","source":"Crossref","is-referenced-by-count":0,"title":["Cardiovascular aspects of Noonan syndrome and related disorders"],"prefix":"10.1515","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-9269","authenticated-orcid":false,"given":"Martin","family":"Zenker","sequence":"first","affiliation":[{"name":"University Hospital Magdeburg Institute of Human Genetics Leipziger Str. 44 Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4701-5843","authenticated-orcid":false,"given":"Cordula M.","family":"Wolf","sequence":"additional","affiliation":[{"name":"German Centre for Cardiovascular Research Lazarettstr. 36 M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"2026051109204716753_j_medgen-2025-2010_ref_001","doi-asserted-by":"crossref","unstructured":"Noonan JA (1968) Hypertelorism with Turner phenotype. 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