Alveolar Capillary Dysplasia

Bishop, Naomi B.; Stankiewicz, Paweł; Steinhorn, Robin H.

doi:10.1164/rccm.201010-1697ci

Cited by 210 publications

(234 citation statements)

References 64 publications

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“…3 Se caracteriza por la falla en la formación o reparación del tejido pulmonar (principalmente, del intersticio y las vías aéreas distales), que lleva al aumento del grosor y fibrosis del parénquima, y que da por resultado final la alteración en la difusión de gases. 4,5 Ante la sospecha de HTP, se debe realizar un ecocardiograma para evaluar la existencia de cardiopatías estructurales congénitas. Luego de haberlas descartado, y ante la presencia de compromiso del intersticio pulmonar en la TAC de tórax que haga sospechar enfermedad pulmonar difusa responsable de la HTP, se deben estudiar las causas conocidas.…”

Section: Discussionunclassified

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Enfermedad pulmonar difusa: causa de hipertensión pulmonar persistente antes del año de vida

et al. 2016

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Presentación de casos clínicosResumen En pediatría, la enfermedad vascular pulmonar es multifactorial y heterogénea. Si bien comparte algunas características con la hipertensión pulmonar en los adultos, hay diferencias en las comorbilidades y condiciones asociadas, la coexistencia de enfermedades genéticas o del desarrollo. Las enfermedades pulmonares intersticiales pueden ser causantes de esta entidad. Una de ellas es la displasia alvéolo-capilar con mal alineamiento de las venas pulmonares, una patología infrecuente pero con 100% de mortalidad, caracterizada por la falla en la formación del tejido pulmonar que da por resultado final la alteración en la difusión de gases. Se describe un caso clínico de una paciente de 5 meses de edad estudiada a partir de sospechar una cardiopatía congénita con hipoxemia persistente, a cuyo diagnóstico se llega por la biopsia pulmonar. Palabras clave: hipertensión pulmonar, enfermedad pulmonar difusa parenquimatosa, displasia alvéolo-capilar con mal alineamiento de las venas pulmonares. AbstRActPulmonary vascular disease in children is multifactorial and heterogeneous. While it shares some features with pulmonary hypertension in adults, there are differences in the associated comorbidities and conditions, the coexistence of genetic or developmental diseases. Interstitial lung diseases may be responsible for this entity. One is alveolar capillary dysplasia with misalignment of pulmonary veins, a rare pathology but with a mortality rate of 100%, characterized by a failure in the formation of lung tissue that eventually results in impaired gas diffusion. We present a 5-month-old patient studied due to suspected congenital heart disease with persistent hypoxemia; diagnosis was made through lung biopsy. Key words: pulmonary hypertension, diffuse parenchymal lung disease, alveolar capillary dysplasia with misalignment of pulmonary veins.

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“…El 60% desarrolla cianosis y dificultad respiratoria asociadas a crisis de HTP dentro de las primeras 48 horas de vida. 5 El resto manifiesta síntomas durante las siguientes semanas de vida, y se evidencia, además de la HTP persistente, hipoxemia aguda o tan solo discreta taquipnea.…”

Section: Discussionunclassified

Enfermedad pulmonar difusa: causa de hipertensión pulmonar persistente antes del año de vida

et al. 2016

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“…In neonates, the initial presentation of respiratory failure due to ACD is not significantly different from other disease processes with severe PPHN [1]. These manifestations of pulmonary hypertension such as presence of respiratory distress, generalized cyanosis, severe hypoxemia, and significant hypotension immediately after birth and into the first week of postnatal life may present similarly, without specifically pointing to an underlying cause.…”

Section: Introductionmentioning

confidence: 94%

“…Neonatal alveolar capillary dysplasia (ACD), with misalignment of the pulmonary veins, is a rare, irreversible congenital lung disease characterized by severe persistent pulmonary hypertension of the newborn (PPHN) and refractory hypoxemia, unresponsive to maximal cardiorespiratory support [1]. ACD was first reported by MacMahon in 1947 when he described three term newborns who died within 48 hours after birth with a clinical diagnosis of "fetal atelectasis of unexplained cause" but later confirmed to have ACD by their post-mortem histologic pulmonary findings [2].…”

Section: Introductionmentioning

confidence: 99%

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Echocardiographic Predictors of Alveolar Capillary Dysplasia: A Case-Control Study

Arcinue¹,

Theodora²,

Noori³

et al. 2016

Enliven: J Anesth Crit Care Med

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ObjectiveTo evaluate early echocardiographic variables of neonates with alveolar capillary dysplasia (ACD). Study DesignA case-control study of five neonates with ACD and their matched controls on extracorporeal membrane oxygenation from 2000-2011. Two cardiologists prospectively reviewed first admission echocardiograms. Statistical tests included Kappa, T-test, Mann-Whitney, Fisher's exact, and Chi-square analysis. ResultsExcellent inter-rater reliability readings were achieved (Kappa 0.75-1). Tricuspid regurgitation (TR) velocities between the groups were not statistically significant; all ACD cases and 75% of the controls had TR velocities ≥ 3.2 m/sec. More ACD cases had moderate-severe TR jet (80% vs. none, p<0.01); moderate-severe right atrial enlargement (RAE) (100% vs. none, p<0.01); moderate-severe right ventricular (RV) dilatation (100% vs. none, p<0.01); and moderate-severely depressed RV function (60% vs. none, p<0.01). ACD patients were 12 times more likely to have a combination of moderate-severe RAE and moderate-severe TR jet compared to controls ). ConclusionThe combination of moderate-severe RAE and TR jet unresponsive to maximal interventions should alert clinicians of the possibility for ACD. We speculate that early echocardiographic predictors may identify at-risk neonates with fatal ACD and lead to early consideration of lung transplant.

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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

Szafrański

Dharmadhikari

Wambach

et al. 2014

American J of Med Genetics Pt A

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Position effects due to disruption of distant cis-regulatory regions have been reported for over 40 human gene loci; however, the underlying mechanisms of long-range gene regulation remain largely unknown. We report two patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) caused by overlapping genomic deletions that included a distant FOXF1 transcriptional enhancer mapping 0.3 Mb upstream to FOXF1 on 16q24.1. In one patient with atypical late-onset ACDMPV, a ~ 1.5 Mb deletion removed the proximal 43% of this enhancer, leaving the lung-specific long non-coding RNA (lncRNA) gene LINC01081 intact. In the second patient with severe neonatal-onset ACDMPV, an overlapping ~ 194 kb deletion disrupted LINC01081. Both deletions arose de novo on maternal copy of the chromosome 16, supporting the notion that FOXF1 is paternally imprinted in the human lungs. RNAi-mediated knock-down of LINC01081 in normal fetal lung fibroblasts showed that this lncRNA positively regulates FOXF1 transcript level, further indicating that decrease in LINC01081 expression can contribute to development of ACDMPV.

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Alveolar Capillary Dysplasia

Cited by 210 publications

References 64 publications

Enfermedad pulmonar difusa: causa de hipertensión pulmonar persistente antes del año de vida

Enfermedad pulmonar difusa: causa de hipertensión pulmonar persistente antes del año de vida

Echocardiographic Predictors of Alveolar Capillary Dysplasia: A Case-Control Study

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

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