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Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known...

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Main Authors: Eichstaedt, Christina (Author) , Belge, Catharina (Author) , Chung, Wendy K. (Author) , Gräf, Stefan (Author) , Grünig, Ekkehard (Author) , Montani, David (Author) , Quarck, Rozenn (Author) , Tenorio-Castano, Jair A. (Author) , Soubrier, Florent (Author) , Trembath, Richard C. (Author) , Morrell, Nicholas W. (Author)
Format: Article (Journal)
Language:English
Published: February 23, 2023.
In: The European respiratory journal
Year: 2023, Volume: 61, Issue: 2, Pages: 1-17
ISSN:1399-3003
DOI:10.1183/13993003.01471-2022
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1183/13993003.01471-2022
Verlag, lizenzpflichtig, Volltext: https://erj.ersjournals.com/content/61/2/2201471
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Author Notes:Christina A. Eichstaedt, Catharina Belge, Wendy K. Chung, Stefan Gräf, Ekkehard Grünig, David Montani, Rozenn Quarck, Jair A. Tenorio-Castano, Florent Soubrier, Richard C. Trembath and Nicholas W. Morrell for PAH-ICON associated with the PVRI
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Summary:Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. ...
Item Description:Gesehen am 13.06.2023
Physical Description:Online Resource
ISSN:1399-3003
DOI:10.1183/13993003.01471-2022

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