TY - JOUR T1 - Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - 387 LP - 392 DO - 10.1136/archdischild-2019-317121 VL - 105 IS - 4 AU - Laurélia Jourdan-Voyen AU - Renaud Touraine AU - Jean-Pierre Masutti AU - Tiffany Busa AU - Catherine Vincent-Delorme AU - Lelia Dreyfus AU - Arnaud Molin AU - Baptiste Savey AU - Abraham Mounzer AU - Ziad Assaf AU - Veronique Atallah AU - Vanessa da Cruz AU - Dominique Gaillard AU - Elise Leroy-Terquem AU - Jean-Baptiste Mouton AU - Jamal Ghoumid AU - Jean-Charles Picaud AU - Frederique Dijoud AU - Sonia Bouquillon AU - Cédric Baumann AU - Laetitia Lambert Y1 - 2020/07/01 UR - http://fn.bmj.com/content/105/4/387.abstract N2 - Objective 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.Methods A retrospective observational study was conducted in French hospitals. Patients born between 2005 and 2017, whose biological samples were sent to the French genetic reference centres, were included. Clinical, histological and genetic data were retrospectively collected.Results We presented a series of 21 patients. The mean of postmenstrual age at birth was 37.6 weeks. The first symptoms appeared on the median of 2.5 hours. Pulmonary hypertension was diagnosed in 20 patients out of 21. Two cases had prolonged survival (3.3 and 14 months). Histological analysis was done on lung tissue from autopsy (57.1% of cases) or from percutaneous biopsy (28.6%). FOXF1 was found abnormal in 15 patients (71.4%): 8 deletions and 7 point mutations. Two deletions were found by chromosomal microarray.Conclusion This study is one of the largest clinically described series in literature. It seems crucial to integrate genetics early into diagnostic support. We propose a diagnostic algorithm for helping medical teams to improve diagnosis of this pathology. ER -