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

Abstract

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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