Ipotensione polmonare nei pazienti con sindrome di Noonan.

BACKGROUND: Noonan syndrome is a RASopathy inherited in an autosomal dominant manner, mainly caused by gain-of-function variants activating the RAS/mitogen-activated protein kinase signalling pathway. Pulmonary hypertension (PH) may occur in Noonan syndrome, but its mechanisms, clinical characteristics and outcomes remain poorly defined. METHODS: We analysed data from the French PH Network to characterise the phenotype of Noonan syndrome patients who develop PH, and conducted a systematic analysis of the literature. RESULTS: Seven patients were identified from the French PH Network (male/female ratio 1.3:1), with a median (range) age at PH diagnosis of 9 (5-21) years. Genetic analysis reve