Clonal hematopoiesis and circulating biomarkers in cardiovascular diseases.

Abstract

Clonal hematopoiesis, characterized by the age-related expansion of hematopoietic stem cell clones harboring somatic mutations, has emerged as an essential contributor to cardiovascular disease. Accumulating evidence indicates that clonal hematopoiesis driven by myeloproliferative neoplasm-associated driver mutations, particularly JAK2, is associated with an increased risk of vascular and cardiac complications, even at low variant allele frequencies. Experimental models and clinical studies demonstrate that mutant hematopoietic cells promote inflammation and pathological remodeling, thereby contributing to cardiovascular disorders such as pulmonary hypertension and aortic aneurysm. In addition, advances in circulating biomarker research have enabled less invasive assessment of cardiovascular diseases. Biomarkers, including cell-free DNA, reflect ongoing cardiac damage, while the extracellular matrix protein of collagen triple helix repeat-containing protein 1 (CTHRC1) provides insights into cardiac fibrosis. Clonal hematopoiesis and circulating biomarkers may enhance risk stratification and improve mechanistic understanding of cardiovascular pathology. This review summarizes current evidence of clonal hematopoiesis and circulating biomarkers in cardiovascular diseases.