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.
- 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.