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https://doi.org/10.14300/mnnc.2018.13100

Possibilities of molecular biopsy in differential diagnosis of pulmonary arterial hypertension: case description and literature review

[Notes from practice]
Elena Dankovtseva; Natalya Osipova; Larisa Minushkina; Gleb Speshilov; Alexey Nikitin; Albert Galyavich; Krestina Remblevskaya; Dmitry Zateyschikov;

Precision studies of pulmonary arterial hypertension (PAH) have led to identification of the subgroup of pulmonary venoocclusive disease (PVOD). The article describes the clinical case of the hereditary form of PAH in a 53-year-old woman. Using next-generation sequencing we found biallelic mutations in the EIF2AK4 gene – c.C2965T variant in the heterozygous state resulting in the non-synonymous substitution in the position 989 of the protein (p.Arg989Trp) and the non-described variant c.859+1G>A in the exon 7 in the heterozygous state. Taking into consideration the genetic data, the diagnosis in this case was changed from idiopathic PAH to PVOD. So, implementation of molecular genetic methods in routine clinical examination of patients with PAH can greatly improve and speed up the diagnostic process.

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Keywords: pulmonary arterial hypertension, pulmonary venoocclusive disease, EIF2AK4 gene mutations