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Induction and Phenotyping of Acute Right Heart Failure in a Large Animal Model of Chronic Thromboembolic Pulmonary Hypertension
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Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center

Zsuzsanna Bereczky1, Gábor Kolodzey2, Sarolta Borsos1

  • 1Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.

Genes
|November 27, 2025
PubMed

Insights

Genetic factors in chronic thromboembolic pulmonary hypertension (CTEPH) are diverse, involving multiple gene variants rather than a single cause. This study identified candidate variants in CTEPH patients, suggesting a complex genetic background for this rare disease.

Area of Science:

  • Genetics and genomics
  • Cardiovascular and respiratory medicine
  • Thrombosis and hemostasis

Background:

  • Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare condition influenced by genetic and environmental factors.
  • Identifying genetic determinants is crucial for understanding CTEPH pathogenesis.
  • Previous research suggested specific genes, but a comprehensive genetic analysis was lacking.

Purpose of the Study:

  • To identify potential genetic determinants in patients diagnosed with CTEPH.
  • To compare the occurrence of genetic variants in CTEPH patients versus a control group of pulmonary embolism patients without CTEPH.
  • To investigate the genetic basis of CTEPH by analyzing genes involved in coagulation, fibrinolysis, platelet function, and vascular conditions.

Main Methods:

  • Next-generation sequencing was employed to analyze Tier 1 and 2 genes.
  • Genes analyzed were related to coagulation, fibrinolysis, platelet disorders, and vascular conditions.
  • Non-synonymous, rare variants were collected and interpreted in 15 CTEPH patients and 17 controls.

Main Results:

  • No single gene or variant was consistently found across all CTEPH patients, indicating genetic heterogeneity.
  • Several candidate variants were identified in genes including F12, F13A1, F5, VWF, and others, which were absent in the control group.
  • Exclusive variants were not detected in FGA, CPB2, and BMPR2; mutations in VWF and F8 did not explain elevated Factor VIII and von Willebrand factor levels.

Conclusions:

  • The genetic background of CTEPH is heterogeneous, involving multiple genetic pathways.
  • Coagulation, altered fibrinolysis, and impaired angiogenesis are implicated in CTEPH.
  • Further investigation in larger cohorts is warranted to elucidate the role of specific genes and variants in CTEPH.

Keywords:
CTEPHchronic thromboembolic pulmonary hypertensioncoagulationfibrinolysismutationnext-generation sequencingpulmonary embolismthrombosis and hemostasisvariant detectionvascular disorders

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