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

Towe, C.; White, Frances V.; Grady, R. Mark; Sweet, Stuart C.; Eghtesady, Pirooz; Wegner, Daniel; Pei, Sen; Szafrański, Przemysław; Stankiewicz, Paweł; Hamvas, Aaron; Cole, F. Sessions; Wambach, Jennifer A.

doi:10.1016/j.jpeds.2017.10.026

Cited by 58 publications

(65 citation statements)

References 32 publications

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“…The histological findings diagnostic for ACD/MPV are characterized by decreased pulmonary capillaries, thickened alveolar septa, medial hypertrophy of small pulmonary arteries, and malposition of pulmonary veins adjacent to small pulmonary arteries, which clinically results in lethal pulmonary hypertension and hypoxemia . Towe et al recently reported a case series study in which six infants underwent bilateral lung transplantation for ACD/MPV, and the posttransplant outcomes were comparable to those of infants transplanted for other indications …”

Section: Introductionmentioning

confidence: 99%

Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins

Nakajima

Oda

Mineura

et al. 2020

American Journal of Transplantation

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Abbreviations: ACD/MPV, alveolar capillary dysplasia with misalignment of pulmonary veins; ASD, atrial septal defect; CLAD, chronic lung allograft dysfunction; CPB, cardiopulmonary bypass; CT, computed tomography; EBER, Epstein-Barr virus encoded small RNAs; EBV, Epstein-Barr virus; ECMO, extracorporeal membrane oxygenation; FDG, fluorodeoxyglucose; FEV1, forced expiratory volume in one second; FVC, forced vital capacity; ICU, intensive care unit; LDLLT, living donor lobar lung transplant; MMF, mycophenolate mofetil; PET, positron emission tomography; POD, postoperative day; PTLD, posttransplant lymphoproliferative disorder.

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Section: Introductionmentioning

confidence: 99%

Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins

Nakajima

Oda

Mineura

et al. 2020

American Journal of Transplantation

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“…This could allow neonatologists to give a diagnosis rapidly but this examination is often impossible because of patients’ haemodynamic instability. Moreover, like suggested in literature, a negative result for biopsy could be an issue of sampling bias, suggesting patchy lung involvement, mostly in patients with atypical presentations 10 11. Therefore, a normal lung biopsy should not eliminate ACD.…”

Section: Discussionmentioning

confidence: 86%

“…The age of death is also variable: two of our cases presented with prolonged survival, 3.3 months and 1 year and 2 months, respectively. Some cases with a prolonged survival were described in the literature 7 10 11. The longest survival was described by Reiter et al in 2016 about a 3-year-old patient, still alive at the time of publication 9.…”

Section: Discussionmentioning

confidence: 99%

“…Its diagnosis is histological2 and is defined by: immature lobular development, decreased number of pulmonary capillaries, lymphangiectasia, medial hypertrophy of small pulmonary arteries, muscularisation of distal arterioles and dilated bronchial veins in the same adventitial sheath as pulmonary arteries 3. ACD is a pathology with phenotypic variability since many cases of delayed presentation and/or prolonged survival have been described 4–11. In 2009, Stankiewicz et al ascribed ACD to heterozygous loss of function of the FOXF1 gene 12.…”

Section: Introductionmentioning

confidence: 99%

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Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Jourdan-Voyen

Touraine

Masutti

et al. 2019

Arch Dis Child Fetal Neonatal Ed

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ObjectiveAlveolar 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.MethodsA 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.ResultsWe 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.ConclusionThis 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.

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“…Patients with ACDMPV can present with persistent pulmonary hypertension in the neonatal period and may have death early in life (Bishop et al, ). However, some patients may have atypical presentations with later onset of symptoms and milder symptoms, as summarized by (Towe et al, ). Ito et al () published a case with ACDMPV and FOXF1 frameshift mutation that presented late and survived to over 3 years of age.…”

Section: Introductionmentioning

confidence: 99%

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

Abu‐El‐Haija

Fineman

Connolly

et al. 2018

American J of Med Genetics Pt A

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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) describes a group of developmental disorders affecting the lungs with its pulmonary vasculature. Mutations in the FOXF1 gene have been reported in most cases, and extrapulmonary findings were described.We present two patients with ACDMPV and FOXF1 mutations that illustrate the variability in presentation and outcome of their disease. Patient 1 was a full-term infant with imperforate anus and pulmonary hypertension. He required Extracorporeal Membrane Oxygenation on day of life (DOL) 3, and passed away on DOL 13 after no clinical improvement. Postmortem findings were consistent with ACDMPV. FOXF1 testing revealed a heterozygous pathogenic frameshift de novo mutation, c.1057_1078dup, p.(Gly360Valfs*58). Patient 2 is a 6-month-old female, with a small omphalocele. She had intermittent retractions at 1 week of age. She was admitted with pulmonary hypertension at 7 weeks of age. Lung biopsy confirmed ACDMPV. FOXF1 testing revealed a de novo, heterozygous likely pathogenic missense mutation c.253T>C, p.(Phe85Leu]).Our two patients had different presentations, ages of onset, and progression of their disease.Our second patient had patchy lung involvement on biopsy, which may explain the relatively delayed onset and longer survival. ACDMPV is an important consideration for full-term infants with worsening pulmonary hypertension early in life. K E Y W O R D S alveolar capillary dysplasia with misalignment of pulmonary veins, FOXF1, pulmonary hypertension

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

Abstract: The 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.

Cited by 58 publications

References 32 publications

Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins

Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins

Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study

Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes

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