Alveolar capillary dysplasia

About: Alveolar capillary dysplasia is a research topic. Over the lifetime, 219 publications have been published within this topic receiving 5569 citations. The topic is also known as: Alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

Abstract: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare, autosomal dominant disorder of interstitial lung development, leading to pulmonary hypertension, and death in infancy. Associated features include malformations of the heart, gastrointestinal tract, and genitourinary system. ACDMPV is caused by heterozygous variants in the FOXF1 gene or microdeletions involving FOXF1. We present a male infant with ACDMPV, hypoplastic left heart sequence (HLHS), duodenal atresia, and imperforate anus due to a de novo, in frame deletion in FOXF1: c.209_214del (p.Thr70_Leu71del). Previous reports have suggested that microdeletions involving FOXF1 are associated with ACDMPV with congenital heart defects, including HLHS, gastrointestinal atresias, and other anomalies; whereas likely pathogenic variants within FOXF1 have not been reported with ACDMPV and HLHS. This is the first patient reported with ACDMPV, HLHS, imperforate anus, and duodenal atresia associated with a likely pathogenic variant in the FOXF1 gene.

Developmental and Pediatric Lung Disease

Abstract: This chapter provides an overview of the major forms of lung disease affecting neonates, infants, children, and adolescents; where appropriate, it highlights the distinctions from diseases more commonly seen in adults. A standard approach for tissue handling is presented to maximize the diagnostic yield for pediatric lung biopsies and lobectomies. Congenital lung malformations and acquired cystic lesions are discussed, followed by a review of diffuse disorders of lung development, including pulmonary hypoplasia, pulmonary hyperplasia, acinar dysplasia, and congenital alveolar dysplasia. Developmental disorders of the vasculature are also reviewed, including alveolar capillary dysplasia, primary lymphangiectasia, and lymphangiomatosis. Acute and chronic complications of premature birth remain a significant cause of morbidity and mortality in neonates. Pathologic features of hyaline membrane disease, bronchopulmonary dysplasia, and pulmonary interstitial emphysema are summarized. Diffuse lung disease in children includes a variety of patterns of alveolar and interstitial disease including some diseases unique to this age group, such as pulmonary interstitial glycogenosis, neuroendocrine cell hyperplasia of infancy, and the genetic disorders of surfactant metabolism. The differential diagnosis of diffuse lung disease in children also includes entities such as hypersensitivity pneumonitis, eosinophilic pneumonia, aspiration, and obliterative bronchiolitis. These diseases are reviewed briefly and discussed in more detail in other chapters. A practical approach to pathologic diagnosis is emphasized, by way of integration of clinical features, gross pathology, microscopic findings, and use of special studies when necessary.

Alveolar Capillary Dysplasia as a Cause of Persistent Pulmonary Hypertension.

Abstract: Background Persistent pulmonary hypertension (PPHN) in a term or late preterm has varied etiology.

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.

Abstract: Alveolar capillary dysplasia (ACD) is a rare cause of severe pulmonary hypertension and respiratory failure in neonates. The onset of ACD is usually preceded by a short asymptomatic period. The condition is refractory to all available therapies as it irreversibly affects development of the capillary bed in the lungs. The diagnosis of ACD is based on histopathological evaluation of lung biopsy or autopsy tissue or genetic testing of FOXF1 on chromosome 16q24.1. Here, we describe the first two Polish patients with ACD confirmed by histopathological and genetic examination. The patients were term neonates with high Apgar scores in the first minutes of life. They both were diagnosed prenatally with heart defects. Additionally, the first patient presented with omphalocele. The neonate slightly deteriorated around 12th hour of life, but underwent surgical repair of omphalocele followed by mechanical ventilation. Due to further deterioration, therapy included inhaled nitric oxide (iNO), inotropes and surfactant administration. The second patient was treated with prostaglandin E1 since birth due to suspicion of aortic coarctation (CoA). After ruling out CoA in the 3rd day of life, infusion of prostaglandin E1 was discountinued and immediately patient’s condition worsened. Subsequent treatment included re-administration of prostaglandin E1, iNO and mechanical ventilation. Both patients presented with transient improvement after application of iNO, but died despite maximized therapy. They were histopathologically diagnosed post-mortem with ACD. Array comparative genomic hybridization in patient one and patient two revealed copy-number variant (CNV) deletions, respectively, ~ 1.45 Mb in size involving FOXF1 and an ~ 0.7 Mb in size involving FOXF1 enhancer and leaving FOXF1 intact. Both patients presented with a distinct course of ACD, extra-pulmonary manifestations and response to medications. Surgery and ceasing of prostaglandin E1 infusion should be considered as potential causes of this variability. We further highlight the necessity of thorough genetic testing and histopathological examination and propose immunostaining for CD31 and CD34 to facilitate the diagnostic process for better management of infants with ACD.

Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation.

Abstract: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal cause of refractory pulmonary hypertension of the newborn. We describe the clinical course of a neonate with refractory pulmonary hypertension diagnosed with ACD/MPV, aortic coarctation and other not previously reported associated malformations.