Clonal hematopoiesis and circulating biomarkers in cardiovascular diseases

Tetsuro Yokokawa1,2, Tomofumi Misaka1, Kazuhiko Ikeda3

  • 1Department of Cardiovascular Medicine, Fukushima Medical University.

Insights

Clonal hematopoiesis, an age-related expansion of mutated stem cells, contributes to cardiovascular disease. Biomarkers like cell-free DNA and CTHRC1 aid in assessing cardiac damage and fibrosis, improving risk stratification.

Area of Science:

  • Cardiovascular Medicine
  • Hematology
  • Genetics

Background:

  • Clonal hematopoiesis, the expansion of mutated hematopoietic stem cell clones with age, is increasingly linked to cardiovascular disease.
  • Mutations like JAK2 in clonal hematopoiesis elevate risks for vascular and cardiac complications, even at low variant allele frequencies.
  • Mutant hematopoietic cells drive inflammation and pathological remodeling, contributing to conditions like pulmonary hypertension and aortic aneurysm.

Purpose of the Study:

  • To review the current evidence linking clonal hematopoiesis and circulating biomarkers to cardiovascular diseases.
  • To explore the role of mutant hematopoietic cells in cardiovascular pathology.
  • To highlight the utility of biomarkers in assessing cardiovascular conditions.

Main Methods:

  • Review of experimental models and clinical studies on clonal hematopoiesis and cardiovascular disease.
  • Analysis of research on circulating biomarkers, including cell-free DNA and CTHRC1.
  • Synthesis of evidence on the contribution of clonal hematopoiesis to cardiovascular disorders.

Main Results:

  • Clonal hematopoiesis, particularly with JAK2 mutations, is a significant risk factor for cardiovascular complications.
  • Mutant hematopoietic cells promote inflammation and remodeling, underlying cardiovascular pathologies.
  • Circulating biomarkers (cell-free DNA, CTHRC1) offer less invasive methods for assessing cardiac damage and fibrosis.

Conclusions:

  • Clonal hematopoiesis is an emerging contributor to cardiovascular disease pathogenesis.
  • Circulating biomarkers show promise for enhanced cardiovascular risk stratification and mechanistic insights.
  • Integrating clonal hematopoiesis and biomarker data can improve understanding and management of cardiovascular pathology.

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