TET2 CHIP mutations linked to heart failure

A 3D image of a heart is shown against a medical backdrop.

About 10% of adults ages 70 and older have age-related mutations in blood-forming cells called clonal hematopoiesis of indeterminate potential (CHIP). Most adults do not have increased risks for complications, but a small portion – about 6% – have significantly increased risks for cardiovascular disease. As researchers study these links, they continue to find connections between CHIP and heart failure. Now, a study in JAMA Network Open confirmed links between TET2 CHIP mutations and increased risks for heart failure that occurs when the walls of the heart become stiff and make it difficult for the heart to fill up with blood between beats. This is called heart failure with preserved ejection fraction, or HFpEF. The researchers note the findings may inform personalized ways to manage and treat CHIP. 

The longitudinal study included 8,090 adults, 512 of whom had CHIP. The researchers looked at two CHIP mutations – DNMT3A and TET2 – and different types of heart failure. Approximately 945 adults in the study had heart failure. While the researchers found TET2 CHIP mutations were linked to a 2.4-times increased risk for HFpEF, they did not find links to heart failure with reduced ejection fraction (HFrEF). Adults with CHIP who had elevated markers of inflammation, measured by C-reactive protein (CRP), were also more likely to experience increased risks for HFpEF. 

The study, which included participants from the Jackson Heart Study and Women’s Health Initiative, was partially supported by NHLBI.