Genetic data could add value to the COMPERA 4-strata model in risk stratification of young patients with pulmonary arterial disease (PAH), according to a study recently published in Revista Española de Cardiología.

“Even though the addition of genetic results did not improve the value of the current 4-strata model, this study suggests that the use of genetics might lead to more accurate stratification of intermediate risk not only in the subset of young patients with idiopathic, heritable, drug-induced PAH, but also in patients with heritable or sporadic PVOD [pulmonary veno-oclusive disease],” the study’s authors said.

The prognostic capacity of 4-strata risk score criteria remained similar after the addition of genetic data (Harrell’s C-index, 0.689 vs 0.690). However, the authors observed a nonsignificant trend toward the identification of intermediate-low and intermediate-high risk patients when using genetics. On the other hand, they did not find any difference between intermediate-high and high-risk patients when combining 4-strata risk score criteria with genetics.

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Patients with pathogenic or likely pathogenic variant were younger than those without significant genetic variants (36.5 vs 51.5 years, P = .001) and had slightly worse hemodynamic parameters.

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Genetic analysis led to the reclassification of 31 of 219 cases initially identified as idiopathic PAH. Most were reclassified as heritable PAH.

The study enrolled 298 individuals with idiopathic, familial, drug-induced PAH or PVOD from the Registro Español de Hipertensión Arterial Pulmonar who were genetically tested. Sixty-five patients had at least 1 pathogenic or likely pathogenic variant. Altered genes included BMPR2, EIF2AK4, TBX4, and ABCC8, among others. In addition, 22 patients had a variant of unknown significance as the exclusive gene variant, with the most frequent being in ABCC8 and NOTCH3.


Cruz-Utrilla A, Gallego-Zazo N, Pérez-Olivares C, et al. Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension. Rev Española Cardiol. Published online November 18, 2022. doi: