Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression

Boggs, Stephanie; Harris, Mary C.; Hoffman, David J.; Goel, Rajiv; McDonald‐McGinn, Donna M.; Langston, Claire; Zackai, Elaine H.; Ruchelli, Eduardo D.

doi:10.1016/s0022-3476(94)70267-5

Cited by 98 publications

(80 citation statements)

References 7 publications

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“…29,30 It will be interesting to investigate tissue-specific pattern of methylation of FOXF1 in humans as a majority of the ACD/MPV patients also have anomalies of other organ systems. 3,4 Eventually, we would like to understand the molecular role of FOXF1 in lung development, thereby providing counseling and possibly treatment for patients with ACD/MPV and their families in future. …”

Section: Discussionmentioning

confidence: 99%

“…It affects both parenchymal and pulmonary vasculature development. 1,2 The characteristic histologic features include malpositioned (misaligned) pulmonary veins that run alongside small pulmonary arteries both in their pre-acinar and intra-acinar course and, at times with the arteries within a common adventitial sheath, rather than in their normal location within interlobular septa or at the lobular periphery; 3,4 increased smooth muscles in small pulmonary arteries; lobular underdevelopment and a severe deficiency of normally positioned and normal sized capillaries in alveolar walls. 3,5 A third of the cases also have lymphangiectasis.…”

Section: Introductionmentioning

confidence: 99%

“…3 Most cases of ACD/MPV are sporadic with only a few reported familial cases (B10%). 4,[6][7][8][9] Affected infants typically present with pulmonary hypertension within a few hours of birth and despite treatment with positive pressure oxygen, nitric oxide, sildenafil and/or extracorporeal membrane oxygenation, clinical improvement is limited and survival is brief. [10][11][12] A few cases of late presentation and longer survival have been reported.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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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.416G4T; 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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2012

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“…Most occurrences are sporadic; however, a familial predisposition has been described in two cases. 1,10 Accompanying anomalies involving the genitourinary tract and the gastrointestinal or cardiac systems are frequent. The incidence of the disease is not known, although it is probably present more often than it is recognized; infants with MPV may have been diagnosed having a so-called "idiopathic" PPHN.…”

Section: Discussionmentioning

confidence: 99%

Congenital Misalignment of Pulmonary Vessels and Alveolar Capillary Dysplasia: How to Manage a Neonatal Irreversible Lung Disease?

et al. 2000

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Congenital misalignment of pulmonary vessels (MPV) with alveolar capillary dysplasia is a rare condition consisting of anomalous veins in bronchovascular bundles, a decreased number of alveolar capillaries, and increased muscularization of pulmonary arterioles. In the literature, infants reported as having such a malformation developed respiratory distress with persistent pulmonary hypertension and ultimately died. We report the case of an infant with MPV and alveolar capillary dysplasia who was unresponsive to maximal cardiorespiratory support, including high-frequency oscillatory ventilation and inhaled nitric oxide; the infant died of pulmonary hemorrhage after 19 days, during venoarterial extracorporeal membrane oxygenation bypass. We conclude that the diagnosis of MPV and alveolar capillary dysplasia should be considered during autopsy of infants who have died of irreversible persistent pulmonary hypertension. If a lung biopsy in infants with prolonged refractory hypoxemia confirms such diagnosis before death, expensive and invasive treatments such as extracorporeal membrane oxygenation could be avoided. Journal of Perinatology 2000; 3:189-192.Congenital misalignment of pulmonary vessels (MPV) with alveolar capillary dysplasia is a rare disorder of pulmonary vascular development associated with persistent pulmonary hypertension (PPHN) and unremitting hypoxemia. It was first described in 1981 in a full-term infant girl who developed respiratory distress and PPHN at birth and died of hypoxemia after 40 hours. At autopsy, a decreased number of alveolar capillaries, increased muscularization of pulmonary arterioles, and anomalous veins in bronchovascular bundles were detected. In the literature, 22 cases have been described with this condition. All infants developed respiratory distress with PPHN within the first 2 days of life. Despite a transient response to maximal supportive therapies, all patients died. [1][2][3][4][5][6] CASE REPORTThis newborn infant girl was born at 41 weeks' gestation by cesarean section; the pregnancy was uncomplicated, birth weight was 2790 gm, and Apgar scores were 7 and 9 at 1 and 5 minutes, respectively. At 3 hours of age, a cyanotic spell occurred and ambient oxygen concentration increased. Next, respiratory status deteriorated and respiratory distress occurred; the infant was intubated at 20 hours, and mechanical ventilation was started. Fractional inspired oxygen (FIO 2 ) and ventilatory settings were progressively increased; at FIO 2 of 100%, arterial blood gas showed a pH of 7.24, PCO 2 of 41 mm Hg, PO 2 of 26 mm Hg, HCO 3 of 21, and base excess of Ϫ4. The chest radiograph showed well-aerated lungs and nonspecific diffuse haziness. Echocardiography showed an anatomically normal heart with a right to left shunt through a patent ductus arteriosus and a small foramen ovale. An infection screen was performed, and ampicillin and gentamicin were administered. Inotropic support with dopamine and dobutamine was started to maintain normal blood pressure values. The baby continued to ...

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“…Alveolar capillary dysplasia (ACD) with misaligned pulmonary veins is an exceedingly rare and apparently lethal cause of persistent pulmonary hypertension of the newborn (PPHN), previously reported in the literature in only 21 cases. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] The final diagnosis in the majority of these cases could be made only after microscopic pathologic examination of the lung on autopsy. However, recent reports have described open lung biopsy as a diagnostic alternative.…”

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confidence: 99%

Alveolar Capillary Dysplasia: Diagnostic Potential for Cardiac Catheterization

et al. 1999

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Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression

Cited by 98 publications

References 7 publications

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

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

Congenital Misalignment of Pulmonary Vessels and Alveolar Capillary Dysplasia: How to Manage a Neonatal Irreversible Lung Disease?

Alveolar Capillary Dysplasia: Diagnostic Potential for Cardiac Catheterization

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