Article
The preponderance of genetic variations in paediatric pulmonary hypertension.
Respiratory medicine and research - 1 May 2026
Grynblat Julien, Eyries Mélanie, Ambar-Akkaoui Marine, Levy Marilyne, Meot Mathilde, Szezepanski Isabelle, Ranchoup Julien, Callegari Alessia, Karila-Cohen Julie, Bonnet Caroline, Marijon Pierre, Champ Jerome, Coulet Florence, Ovaert Caroline, Perros Frédéric, Antigny Fabrice, Maragnes Pascale, Vaksmann Guy, Humbert Marc, Malekzadeh Milani Sophie Guiti, Montani David, Bonnet Damien
Abstract excerpt
OBJECTIVES: To determine the prevalence and phenotypes of children with heritable pulmonary arterial hypertension (PAH) and those with pulmonary hypertension (PH) associated with genetic disorders. METHODS: We retrospectively analysed 133 paediatric cases with PAH, with a median age of 6 years. RESULTS: 83 patients had isolated PAH, 41 had associated congenital heart disease, and 9 had suspected pulmonary veno...
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