From case reports to a cohort: illuminating the spectrum of pulmonary hypertension in Noonan syndrome

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Abstract
Extract Noonan syndrome is an autosomal dominant genetic condition with multisystem involvement and an estimated prevalence of one in 1000 to 2500 live births [1]. Its unifying biological feature is dysregulation of the RAS/MAP kinase signalling pathway with pathogenic variants most commonly found in PTPN11 (∼50%), SOS1 (10%), RAF1 (5–15%) and RIT1 (10%) [2, 3]. Cardiovascular manifestations are among the most clinically significant features, including pulmonary stenosis in 50–60% of individuals, hypertrophic cardiomyopathy in 20%, and secundum-type atrial septal defects in 6–10% [3]. Shareable abstract The study of Noonan syndrome by Grynblat and co-workers serves as an essential foundation and lays the groundwork for collaborative research directed at addressing numerous areas of need for patients and families impacted by this condition https://bit.ly/4bfkxud

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