Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve

Roth, Wilfried; Bucsenez, Dietrich; Bläker, Hendrik; Berger, Irina

doi:10.1007/s00428-005-0127-8

Cited by 12 publications

(6 citation statements)

References 12 publications

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“…2004; Roth et al. 2006; Bagci et al. 2009), cardiomyopathy has not been previously reported in this disorder.…”

Section: Resultsmentioning

confidence: 99%

“…This case was confirmed to have trisomy X by karyotyping. Although congenital structural heart defects are known to be in the clinical spectrum of trisomy X (Haverty et al 2004;Roth et al 2006;Bagci et al 2009), cardiomyopathy has not been previously reported in this disorder. Therefore, whether trisomy X contributes to the cardiomyopathy in this patient is uncertain.…”

Section: Whole Gene Duplicationsmentioning

confidence: 95%

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Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Ceyhan‐Birsoy

Pugh

Bowser

et al. 2015

Molec Gen & Gen Med

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BackgroundDiagnostic testing for genetic cardiomyopathies has undergone dramatic changes in the last decade with next generation sequencing (NGS) expanding the number of genes that can be interrogated simultaneously. Exon resolution copy number analysis is increasingly incorporated into routine diagnostic testing via cytogenomic arrays and more recently via NGS. While NGS is an attractive option for laboratories that have no access to array platforms, its higher false positive rate requires weighing the added cost incurred by orthogonal confirmation against the magnitude of the increase in diagnostic yield. Although copy number variants (CNVs) have been reported in various cardiomyopathy genes, their contribution has not been systematically studied.MethodsWe performed single exon resolution NGS‐based deletion/duplication analysis for up to 46 cardiomyopathy genes in >1400 individuals with cardiomyopathies including HCM, DCM, ARVC, RCM, and LVNC.Results and ConclusionClinically significant deletions and duplications were identified in only 9 of 1425 (0.63%) individuals. The majority of those (6/9) represented intragenic events. We conclude that the added benefit of exon level deletion/duplication analysis is low for currently known cardiomyopathy genes and may not outweigh the increased cost and complexity of incorporating it into routine diagnostic testing for these disorders.

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“…2004; Roth et al. 2006; Bagci et al. 2009), cardiomyopathy has not been previously reported in this disorder.…”

Section: Resultsmentioning

confidence: 99%

Section: Whole Gene Duplicationsmentioning

confidence: 95%

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Ceyhan‐Birsoy

Pugh

Bowser

et al. 2015

Molec Gen & Gen Med

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“…Another disorder more prevalent in infancy is alveolar capillary dysplasia (ACD), which is a rare fatal developmental disorder that results in severe persistent pulmonary hypertension of the newborn typically in the first days of life . Commonly diagnosed at autopsy, the presence of ACD has been documented in several case series and a large number of case reports . There have also been small case series and/or case reports of pulmonary hypertension in several other specific chILD entities, none of which qualified for inclusion in our review, but include pulmonary hypoplasia, capillary hemangiomatosis, pulmonary interstitial glycogenosis, pulmonary hemosiderosis, Lymphocytic interstitial pneumonia, Langerhans cell histiocytosis, and pulmonary vasculitis with hyperesinophilia …”

Section: Discussionmentioning

confidence: 99%

Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature

Bromley

Vizcaya

2016

Pediatric Pulmonology

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Childhood interstitial lung disease (chILD) comprises a wide heterogeneous group of rare parenchymal lung disorders associated with substantial morbidity and mortality. Pulmonary hypertension is a common comorbidity in adults with interstitial lung disease (ILD) and associated with poor survival. We aimed to systematically review the literature regarding the occurrence of pulmonary hypertension (PH) in chILD, its effect on prognosis and healthcare use, and its treatment in clinical practice. Searches of PubMed and EMBASE databases (up to February 2016), and American Thoracic Society conference abstracts (2009-2015) were conducted using relevant keywords. References from selected articles and review papers were scanned to identify further relevant articles. A total of 20 articles were included; estimates of PH in chILD ranged from 1% to 64% with estimates among specific chILD entities ranging from 0% to 43%. Comparisons between studies were limited by differences in the study populations, including the size, age range, and heterogeneous composition of the ILD case series in terms of the nature and severity of the clinical entities, and also the methods used to diagnose PH. Three studies found that among patients with chILD, those with PH had a significantly higher risk (up to sevenfold) of death compared with those without PH. Information on the treatment of pulmonary hypertension in chILD or the effect of PH on healthcare use was not available. Data on the use and effectiveness of treatments for pulmonary hypertension in chILD are required to address this area of unmet need. Pediatr Pulmonol. 2017;52:689-698. © 2016 Wiley Periodicals, Inc.

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“…In about 10%, alveolar capillary dysplasia is associated with congenital heart disease. 1,[3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] The clinical picture is dominated by progressive cyanosis in an infant with signs of respiratory distress because of severe neonatal pulmonary arterial hypertension. The outcome is always fatal even if prolonged survival for several months has been reported.…”

Section: A Lveolar Capillary Dysplasia Is a Congenitalmentioning

confidence: 99%

FOXgene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

Laux

Malan

Bajolle³

et al. 2013

Cardiol Young

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Genetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

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Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve

Cited by 12 publications

References 12 publications

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies

Pulmonary hypertension in childhood interstitial lung disease: A systematic review of the literature

FOXgene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

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