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Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension

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Background: Aim of this prospective study was to compare clinical and genetic findings in children with idiopathic or heritable pulmonary arterial hypertension (I/HPAH) with children affected with congenital heart defects associated PAH (CHD-APAH). Methods: Prospectively included were 40 consecutive...

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Main Authors: Pfarr, Nicole (Author) , Fischer, Christine (Author) , Benjamin, Nicola (Author) , Becker-Grünig, Tabea (Author) , López-González, Vanesa (Author) , Gorenflo, Matthias (Author) , Hager, Alfred (Author) , Hinderhofer, Katrin (Author) , Miera, Oliver (Author) , Nagel, Christian (Author) , Schranz, Dietmar (Author) , Grünig, Ekkehard (Author)
Format: Article (Journal)
Language:English
Published: 9 January 2013
In: Respiratory research
Year: 2013, Volume: 14, Pages: 1-9
ISSN:1465-993X
DOI:10.1186/1465-9921-14-3
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/1465-9921-14-3
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Author Notes:Nicole Pfarr, Christine Fischer, Nicola Ehlken, Tabea Becker-Grünig, Vanesa López-González, Matthias Gorenflo, Alfred Hager, Katrin Hinderhofer, Oliver Miera, Christian Nagel, Dietmar Schranz and Ekkehard Grünig
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Summary:Background: Aim of this prospective study was to compare clinical and genetic findings in children with idiopathic or heritable pulmonary arterial hypertension (I/HPAH) with children affected with congenital heart defects associated PAH (CHD-APAH). Methods: Prospectively included were 40 consecutive children with invasively diagnosed I/HPAH or CHD-APAH and 117 relatives. Assessment of family members, pedigree analysis and systematic screening for mutations in TGFß genes were performed. Results: Five mutations in the bone morphogenetic protein type II receptor (BMPR2) gene, 2 Activin A receptor type II-like kinase-1 (ACVRL1) mutations and one Endoglin (ENG) mutation were found in the 29 I/HPAH children. Two mutations in BMPR2 and one mutation in ACVRL1 and ENG, respectively, are described for the first time. In the 11 children with CHD-APAH one BMPR2 gene mutation and one Endoglin gene mutation were found. Clinical assessment of relatives revealed familial aggregation of the disease in 6 children with PAH (HPAH) and one CHD-APAH patient. Patients with mutations had a significantly lower PVR. Conclusion: Mutations in different TGFß genes occurred in 8/29 (27.6%) I/HPAH patients and in 2/11 (18.2%) CHD-APAH patients and may influence the clinical status of the disease. Therefore, genetic analysis in children with PAH, especially in those with I/HPAH, may be of clinical relevance and shows the complexity of the genetic background.
Item Description:Gesehen am 20.01.2022
Physical Description:Online Resource
ISSN:1465-993X
DOI:10.1186/1465-9921-14-3

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