CECR1 (ADA2) represents a novel prognostic biomarker of HCM: decreased plasma CECR1 predicted cardiovascular death and sudden cardiac death in two independent validation cohorts and improved the HCM Risk-SCD model's predictive performance.
In a myocardial transcriptome discovery cohort of HCM patients, myocardial expression of CECR1 showed the strongest association with cardiovascular death among the genes assessed.
Plasma CECR1 levels correlated modestly but significantly with myocardial CECR1 expression.
In the Beijing validation cohort, decreased plasma CECR1 independently predicted cardiovascular death and sudden cardiac death.
The prognostic association of plasma CECR1 was replicated in an independent Xi'an validation cohort.
Adding plasma CECR1 to the HCM Risk-SCD model significantly improved its discrimination for sudden cardiac death in both validation cohorts.
The authors conclude CECR1 is a novel prognostic biomarker in HCM that may improve risk stratification and inform ICD decisions.
Hypertrophic cardiomyopathy (HCM), a condition in which the heart muscle thickens, varies greatly in how dangerous it is. Doctors need better ways to tell which patients are at high risk of dying from heart causes or sudden cardiac death so they can treat them earlier. This study looked for new risk markers by examining gene activity in heart tissue from 246 HCM patients followed for about 7 years. The gene that was most strongly linked to cardiovascular death was CECR1 (also called ADA2). The researchers then tested whether CECR1 measured in blood plasma could predict outcomes in two separate groups of patients, one in Beijing (1,238 people) and one in Xi'an (402 people). In both, lower blood CECR1 levels were linked to a higher risk of cardiovascular death and sudden cardiac death. In the Beijing group, low CECR1 was associated with about 3.7 times the risk of cardiovascular death and about 7.4 times the risk of sudden cardiac death after adjustment for other factors. Adding CECR1 to an existing risk calculator (HCM Risk-SCD) improved its ability to separate high-risk from lower-risk patients in both groups. This research suggests a simple blood test for CECR1 could someday help refine risk assessment and decisions about implantable defibrillators, though the study is observational and further testing would be needed before clinical use.
Zhang Y, Wan F, Li C, Wang B, Zhang M, Lu M, et al.. (2026). Cat eye syndrome chromosome region, candidate 1 is a novel prognostic biomarker in hypertrophic cardiomyopathy.. Molecular biomedicine. https://doi.org/10.1186/s43556-026-00648-5