Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare <i>VHL</i> mutations: A case report and review of existing data-Reference-Cited by-同舟云学术

Early‐onset and severe pulmonary arterial hypertension due to a novel compound heterozygous association of rare VHL mutations: A case report and review of existing data

Published:2022-04 Issue:2 Volume:12 Page:
ISSN:2045-8940
Container-title:Pulmonary Circulation
language:en
Short-container-title:Pulm. circ.

Author:

Chomette Laura¹²^ORCID,Migeotte Isabelle²³,Dewachter Céline¹,Vachiery Jean‐Luc¹,Smits Guillaume³,Bondue Antoine¹²^ORCID

Affiliation:

1. Department of Cardiology, CUB Hôpital Erasme Université Libre de Bruxelles (ULB) Brussels Belgium

2. Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM) Université Libre de Bruxelles (ULB) Brussels Belgium

3. Department of Human Genetics, CUB Hôpital Erasme Université Libre de Bruxelles (ULB) Brussels Belgium

Funder

Fonds De La Recherche Scientifique - FNRS

Fonds Erasme

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pul2.12052

Reference23 articles.

1. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension

2. Genetics and genomics of pulmonary arterial hypertension

3. The homozygous VHL D126N missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension

4. Pulmonary arterial hypertension associated with a von Hippel-Lindau gene mutation

5. Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension

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