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Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.

ABSTRACT: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refractory pulmonary hypertension and pulmonary failure with gastrointestinal, urinary, or cardiac malformations. ACDMPV often progresses rapidly, but no conventional biological or imaging tests other than genetic testing are available for its diagnosis. Lung biopsy is currently the gold standard for diagnosis. We herein report two cases of ACDMPV confirmed by pathological examination and discuss their ultrasonographic findings.

SUBMITTER: Lin YB

PROVIDER: S-EPMC9528008 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.

Lin Yan-Bing YB Xia Bei B Cao Juan J Tang Zi-Jian ZJ

The Journal of international medical research 20220901 9

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refractory pulmonary hypertension and pulmonary failure with gastrointestinal, urinary, or cardiac malformations. ACDMPV often progresses rapidly, but no conventional biological or imaging tests other than genetic testing are available for its diagnosis. Lu ...[more]

PMID: 36173014

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

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Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

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Alveolar capillary dysplasia with misalignment of pulmonary veins in a premature newborn: the role of lung ultrasound.

Project description:BackgroundAlveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal neonatal lung disorder characterized by the decrease of the alveolar units, abnormalities in the air-blood barrier of the lung, and impaired gas exchange. Typically, it affects a full-term newborn; the symptoms usually start within a few hours after birth, resulting in severe respiratory distress and pulmonary hypertension. In most of the cases, this disorder is refractory to conventional pulmonary support.Case presentationWe report a case of a newborn male of 29 weeks gestational age, with birth weight of 850 g and intrauterine growth restriction. Severe respiratory distress appeared a few minutes after birth; non-invasive ventilatory support was provided in the delivery room and, as a consequence of persistent respiratory failure, he was admitted to the neonatal intensive care unit (NICU) where mechanical ventilation was required. Due to the symptoms and pulmonary ultrasound pattern suggestive of respiratory distress syndrome, surfactant treatment was administered. Lung ultrasound (LU) was used for monitoring the responsiveness to surfactant; severe pulmonary hypertension ensued, followed by respiratory failure, refractory shock, and death within 48 h. Owing to the poor response to the established therapy, ACD/MPV was suspected. The diagnosis was confirmed through autopsy. The main goal of this case report is to show the role of LU for monitoring the evolution of this disorder.ConclusionLU could provide essential information to help diagnose and follow-up the underlying cause of persistent pulmonary hypertension of the newborn in an earlier and more effective way than chest X-ray. LU is suitable for routine monitoring of lung disease in the NICU.

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Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins.

Project description:Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a lethal neonatal lung disease characterised by severe pulmonary hypertension, abnormal vasculature and intractable hypoxaemia. Mechanisms linking abnormal lung vasculature with severe hypoxaemia in ACD/MPV are unknown. We investigated whether bronchopulmonary anastomoses form right-to-left shunt pathways in ACD/MVP. We studied 2 infants who died of ACD/MPV postmortem with direct injections of coloured ink into the pulmonary artery, bronchial artery and pulmonary veins. Extensive histological evaluations included serial sectioning, immunostaining and 3-dimensional reconstruction demonstrated striking intrapulmonary vascular pathways linking the systemic and pulmonary circulations that bypass the alveolar capillary bed. These data support the role of prominent right-to-left intrapulmonary vascular shunt pathways in the pathophysiology of ACD/MPV.

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Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series.

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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) patient neonate lung gene expression analysis

Project description:Analysis of genes dysregulated in the lungs of neonates with ACDMPV neonate lungs compared to control lungs Total RNA extracted by eight ACDMPV lungs compared to total RNA extracted from five control lungs

2014-03-01 | E-GEOD-54780 | biostudies-arrayexpress

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) patient neonate lung gene expression analysis

Project description:Analysis of genes dysregulated in the lungs of neonates with ACDMPV neonate lungs compared to control lungs

2014-03-01 | GSE54780 | GEO

Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.

Project description:Haploinsufficiency of FOXF1 causes an autosomal dominant neonatally lethal lung disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). We identified novel 0.8-kb deletion within the 1.4-kb intron of FOXF1 in a deceased newborn diagnosed with ACDMPV. The deletion arose de novo on the maternal copy of the chromosome 16, and did not affect FOXF1 minigene splicing tested in lung fibroblasts. However, FOXF1 transcript level in the ACDMPV peripheral lung tissue was reduced by almost 40%. We found that, in an in vitro reporter assay, the FOXF1 intron exhibited moderate transcriptional enhancer activity, correlating with the presence of binding sites for expression regulators CTCF and CEBPB, whereas its truncated copy, which lost major CTCF and CEBPB-binding sites, inhibited the FOXF1 promoter. Our data further emphasize the importance of testing the non-protein coding regions of the genome currently not covered by diagnostic chromosomal microarray analyses or whole-exome sequencing.

| S-EPMC4123314 | biostudies-literature

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.

Project description:Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare developmental lung disorder that is uniformly lethal. Affected infants die within the first few weeks of their life despite aggressive treatment, although a few cases of late manifestation and longer survival have been reported. We have shown previously that mutations and deletions in FOXF1 are a cause of this disorder. Although most of the cases of ACD/MPV are sporadic, there have been infrequent reports of familial cases. We present a family with five out of six children affected with ACD/MPV. DNA analysis identified a missense mutation (c.416G>T; p.Arg139Leu) in the FOXF1 gene that segregated in the three affected siblings tested. The same variant is also present as a de novo mutation in the mother and arose on her paternally derived chromosome 16. The two tested affected siblings share the same chromosome 16 haplotype inherited from their maternal grandfather. Their single healthy sibling has a different chromosome 16 haplotype inherited from the maternal grandmother. The results are consistent with paternal imprinting of FOXF1 in human.

| S-EPMC3598325 | biostudies-literature

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.

Project description:ObjectiveTo describe disease course, histopathology, and outcomes for infants with atypical presentations of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) who underwent bilateral lung transplantation.Study designWe reviewed clinical history, diagnostic studies, explant histology, genetic sequence results, and post-transplant course for 6 infants with atypical ACDMPV who underwent bilateral lung transplantation at St. Louis Children's Hospital. We compared their histology with infants with classic ACDMPV and compared their outcomes with infants transplanted for other indications.ResultsIn contrast with neonates with classic ACDPMV who present with severe hypoxemia and refractory pulmonary hypertension within hours of birth, none of the infants with atypical ACDMPV presented with progressive neonatal respiratory failure. Three infants had mild neonatal respiratory distress and received nasal cannula oxygen. Three other infants had no respiratory symptoms at birth and presented with hypoxemia and pulmonary hypertension at 2-3 months of age. Bilateral lung transplantation was performed at 4-20 months of age. Unlike in classic ACDMPV, histopathologic findings were not distributed uniformly and were not diffuse. Three subjects had apparent nonmosaic genetic defects involving FOXF1. Two infants had extrapulmonary anomalies (posterior urethral valves, inguinal hernia). Three transplanted children are alive at 5-16 years of age, similar to outcomes for infants transplanted for other indications. Lung explants from infants with atypical ACDMPV demonstrated diagnostic but nonuniform histopathologic findings.ConclusionsThe 1- and 5-year survival rates for infants with atypical ACDMPV are similar to infants transplanted for other indications. Given the clinical and histopathologic spectra, ACDMPV should be considered in infants with hypoxemia and pulmonary hypertension, even beyond the newborn period.

| S-EPMC5826830 | biostudies-literature

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