Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed.A retrospective observational study was conducted in French hospitals. Patients born between 2005 and 2017, whose...