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 release_h3gwy7oasjdvzkazucuycyewwq

by LAURA CHOMETTE, Isabelle Migeotte, Céline Dewachter, Jean‐Luc Vachiery, Guillaume Smits, Antoine Bondue

Published in Pulmonary Circulation by Wiley.

2022   Volume 12, Issue 2, e12052


Very rare cases of pulmonary arterial hypertension (PAH) have been linked to homozygous or compound heterozygous von Hippel-Lindau (VHL) tumor suppressor gene mutations, while heterozygous VHL mutations lead to VHL tumor syndrome. Although those entities are defined, the genotype-phenotype correlation is incompletely understood, and patient management recommendations are lacking. Here, we describe a case of severe early-onset PAH due to a so-far unreported compound heterozygous association of VHL mutations and review the existing data.
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Type  article-journal
Stage   published
Date   2022-04-01
Language   en ?
DOI  10.1002/pul2.12052
PubMed  35734542
PMC  PMC9190294
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ISSN-L:  2045-8932
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