Key result
Noonan syndrome and related RAS/MAPK syndromes present with specific cardiovascular manifestations, such as pulmonary stenosis and hypertrophic cardiomyopathy, requiring comprehensive genetic and clinical management.
Why the study?
Comprehensive care is needed for systemic manifestations of Noonan and related RAS/MAPK syndromes, prompting this review of essential knowledge for pediatric cardiologists.
This review summarizes the genetic basis, clinical diagnosis, and cardiovascular manifestations of Noonan and RAS/MAPK syndromes, providing essential knowledge for pediatric cardiologists.
Answers are grounded in this paper and cite their sources.
Supports routine cardiac evaluation in suspected Noonan syndrome; leaves open efficacy of emerging molecular therapies.
Noonan症候群（Noonan syndrome: NS）は，特徴的顔貌，心疾患，低身長を特徴とする常染色体顕性（優性）遺伝形式の先天性異常症候群で，1963年にJacqueline Noonan博士によって報告された．多彩な全身症状に対して，包括的な診療が必要となる．近年，NSと臨床的に類似点が多いCostello 症候群（Costello syndrome: CS），心臓・顔・皮膚（cardio-facio-cutaneous: CFC）症候群などが，遺伝子解析によりNSと共通のRAS/MAPK細胞内シグナル伝達系の分子の異常により発症することが解明され，これらの症候群を含むNSの類縁疾患がRAS/MAPK症候群または“RASopathies”と総称されるようになった．本稿では，小児循環器専門医が知っておくべきNoonan・RAS/MAPK症候群の基本知識を紹介する．
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Hiroyuki Yamagishi (2024) conducted a review in Noonan syndrome and RAS/MAPK syndromes. Noonan syndrome and related RAS/MAPK syndromes present with specific cardiovascular manifestations, such as pulmonary stenosis and hypertrophic cardiomyopathy, requiring comprehensive genetic and clinical management.
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