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

Abstract

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.

Keywords

• blood cells
• genetics
• hypoxia inducible factor
• pulmonary circulation