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Genetics of Pulmonary Hypertension
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Genetics of Pulmonary Hypertension

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 September 2021) | Viewed by 2033

Special Issue Editors

Dr. Frances S. De Man

E-Mail Website
Guest Editor
Amsterdam UMC (location VUmc), 1081HV Amsterdam, The Netherlands
Interests: right heart failure; pulmonary hypertension; bone morphogenetic protein receptor; transforming growth factor beta; 3D cell culture models
Dr. David Montani

E-Mail Website
Co-Guest Editor
Hopital de Bicetre, 94270 Le Kremlin-Bicetre, France
Interests: pulmonary hypertension; pulmonary veno-occlusive disease; pulmonary rare diseases; genetics; pharmacovigilance

Special Issue Information

Dear Colleagues,

Pulmonary hypertension is a devastating disease caused by progressive remodeling of the pulmonary arterioles and resulting eventually in severe right heart failure. Genetic predisposition is one of the main risk factors that could develop pulmonary hypertension. With the development of more advanced techniques to perform genetic screening and more sophisticated cell culture models, a plethora of new research is expected on the role of genetic predisposition in pulmonary hypertension and right heart failure.

With this Special Issue on genetics of pulmonary hypertension, we hope to create a translational issue in which both clinical and molecular research papers discuss the contribution of genetic predisposition on the development and progression of pulmonary hypertension. In addition, literature reviews can be submitted that summarize the current knowledge on genetic modifiers of pulmonary hypertension.

Dr. Frances S. De Man
Dr. David Montani
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Pulmonary hypertension
  • Right heart failure
  • Pulmonary veno-occlusive disease
  • Genetics
  • BMPR2
  • EIF2AK4

Published Papers (1 paper)

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Research

7 pages, 649 KiB  
Communication
Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort
by Samara M. A. Jansen, Lieke M. van de Heuvel, Arjan C. Houweling, J. Peter van Tintelen, Frances S. de Man, Anton Vonk Noordegraaf and Harm Jan Bogaard
Genes 2021, 12(10), 1540; https://0-doi-org.brum.beds.ac.uk/10.3390/genes12101540 - 28 Sep 2021
Cited by 1 | Viewed by 1354
Abstract
Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to [...] Read more.
Background: Pulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to all incident and prevalent idiopathic PAH (iPAH) and pulmonary veno-occlusive disease (PVOD) patients in our clinic. Here, we report the lessons learned from (re-)contacting iPAH/PVOD patients concerning the uptake and analysis of identified PAH-associated genes and patient perspectives of the approach. Methods: Between January 2018 and April 2020, all iPAH/PVOD patients who were not previously genetically tested (contact group) and those who tested negative on prior analysis of BMPR2 and SMAD9 variants (re-contact group) were (re-)contacted for (additional) genetic testing. Results: With our approach, 58% of patients (84 out of 165) opted for genetic counselling, and a pathogenic variant was found in 12% of cases (n = 10) (re-contact group, 11%, and contact group, 13%). Eighty-six percent of participants of the survey study appreciated being (re-)contacted for genetic testing. Mild psychosocial impacts were observed. Conclusions: Our report shows the importance of (re-)contact and interest of patients (as indicated by the uptake, mild psychosocial impact and appreciation) in PAH. Full article
(This article belongs to the Special Issue Genetics of Pulmonary Hypertension)
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