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Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study
  1. Laurélia Jourdan-Voyen1,
  2. Renaud Touraine2,
  3. Jean-Pierre Masutti3,
  4. Tiffany Busa4,
  5. Catherine Vincent-Delorme5,
  6. Lelia Dreyfus6,
  7. Arnaud Molin7,
  8. Baptiste Savey8,
  9. Abraham Mounzer9,
  10. Ziad Assaf10,
  11. Veronique Atallah11,
  12. Vanessa da Cruz12,
  13. Dominique Gaillard13,
  14. Elise Leroy-Terquem10,
  15. Jean-Baptiste Mouton14,
  16. Jamal Ghoumid5,
  17. Jean-Charles Picaud15,16,
  18. Frederique Dijoud17,
  19. Sonia Bouquillon18,
  20. Cédric Baumann19,
  21. Laetitia Lambert20
  1. 1 Neonatology, CHU Nancy, Nancy, France
  2. 2 Genetics, CHU Saint-Étienne, Saint-Priest-en-Jarez, France
  3. 3 Pathology, CHU Nancy, Nancy, France
  4. 4 Medical Genetics, Hôpital de la Timone, Marseille, France
  5. 5 Genetics, CHRU Lille Pôle Spécialités Médico-Chirurgicales, Arras, France
  6. 6 Neonatology, CHU Lyon, Bron, France
  7. 7 Genetics, CHU de Caen, Caen, France
  8. 8 Neonatology, CHU de Caen, Caen, France
  9. 9 Pediatrics, CH Verdun, Verdun, France
  10. 10 Neonatology, Hopital Universitaire Necker-Enfants Malades, Paris, France
  11. 11 Cardiology, Necker-Enfants Malades Hospitals, Paris, France
  12. 12 Pathology, CHU Saint-Étienne, Saint-Priest-en-Jarez, France
  13. 13 Genetics, CHU Reims, Reims, Champagne-Ardenne, France
  14. 14 Congenital Cardiac Pathology, CHU Bordeaux GH Pellegrin, Pessac, France
  15. 15 Neonatology, Hopital Croix Rousse, Lyon, France
  16. 16 Neonatology, Universite Lyon 1 Faculte de Medecine et de Maieutique Lyon-Sud Charles Merieux, Oullins, France
  17. 17 Pathology, CHU Lyon, Bron, France
  18. 18 Cytogenetics, CHRU Lille Pôle Spécialités Médico-Chirurgicales, Arras, France
  19. 19 Platform of Clinical Research Facility PARC, CHU Nancy, Nancy, France
  20. 20 Clinical Genetics, CHU Nancy, Nancy, France
  1. Correspondence to Laurélia Jourdan-Voyen, Neonatology, CHU Nancy, 54000 Nancy, France; laujourdan{at}


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.

  • newborns
  • genetics
  • alveolar capillary dysplasia
  • pulmonary hypertension

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  • Contributors LJV conceptualised and designed the study, coordinated data collection, drafted the initial manuscript and approved the final manuscript as submitted. LL and RT reviewed the initial protocol of the study, participated in data collection, reviewed and revised the manuscript, and approved the final manuscript as submitted. JPM, TB, CVD, LD, ArM, BS, AbM, ZA, VA, VC, ELT, JBM, JG, FD, DG and JCP participated in data collection, and reviewed and revised the manuscript. CB carried out the data analyses and participated in the interpretation of results. All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.

  • Funding Funding for the project was provided by the Wellcome Trust.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval The Medical Research Ethics Committee at University Hospital of Nancy approved this study.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available in a public, open access repository. All data relevant to the study are included in the article or uploaded as supplementary information.