Article
Pulmonary hypertension in patients with Noonan syndrome.
The European respiratory journal - 1 Jun 2026
Grynblat Julien, Farges Mathieu, Magro Pascal, Savale Laurent, Ghigna Maria-Rosa, Tagmouti Julia, Jais Xavier, Boucly Athénaïs, Levy Marilyne, Antigny Fabrice, Meyrignac Olivier, Lyonnet Stanislas, Cavé Helene, Nicolle Romain, Marchand-Adam Sylvain, Sitbon Olivier, Coulet Florence, Humbert Marc, Bonnet Damien, Montani David
Abstract excerpt
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...
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