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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.

par Chomette, Laura ;Migeotte, Isabelle ;Dewachter, Céline ;Vachiery, Jean-Luc ;Smits, Guillaume ;Bondue, Antoine
Référence Pulmonary circulation, 12, 2, page (e12052)
Publication Publié, 2022-04

Article révisé par les pairs

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Résumé :

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.