An emerging phenotype of pulmonary arterial hypertension patients carrying<i>SOX17</i>variants

Abstract

PAH due to <i>SOX17</i> pathogenic variants is a severe phenotype, frequently associated with CHD, haemoptysis and radiological abnormalities. Pathological assessment reveals severe pulmonary arterial remodelling and malformations affecting pulmonary vessels and thoracic systemic arteries.