Scientists are developing a simple yet powerful blood test that may help doctors identify which patients are most at risk from hypertrophic cardiomyopathy (HCM), the world’s most common inherited heart condition, according to a report
Hypertrophic cardiomyopathy affects millions of people globally and is caused by genetic mutations that are often passed down through families. The condition leads to abnormal thickening of the heart muscle, making it difficult for the heart to pump blood efficiently.
While many individuals with HCM live relatively normal lives with minimal or no symptoms, others face life-threatening complications such as heart failure, irregular heart rhythms, and in severe cases, sudden cardiac arrest. Currently, there is no cure, and predicting which patients are at the highest risk remains a major challenge for doctors.
In a significant advancement, researchers from leading global institutions including Harvard and Oxford universities have tested a promising new risk-assessment method using a blood biomarker. The study involved around 700 HCM patients and focused on measuring levels of a protein called N-terminal pro-B-type natriuretic peptide (NT-proBNP).
Although NT-proBNP is naturally released by the heart, elevated levels indicate increased cardiac stress. The findings revealed that patients with the highest NT-proBNP levels showed poorer blood flow, increased heart scarring, and structural heart changes linked to atrial fibrillation and heart failure.
Researchers say that using NT-proBNP as a blood test marker could help doctors closely monitor high-risk patients and intervene earlier with life-saving treatments. Professor Carolyn Ho of Harvard Medical School explained that this approach could help deliver “the right treatment to the right patient at the right time.”
She added that ongoing research into blood biomarkers could improve understanding of HCM, enabling doctors to identify who is at high or low risk of developing serious complications — reducing unnecessary treatment for low-risk patients while prioritising care for those who need it most.
The Guardian also highlighted the experience of Lara Johnson, 34, from Southampton, who was diagnosed with HCM eight years ago after suffering breathlessness and fatigue. Several members of her father’s family were later found to have the same condition. She said a simple blood test to predict risk would ease anxiety and help patients plan their lives with greater confidence.
British Heart Foundation chief Prof Bryan Williams said this development could benefit patients globally by predicting heart performance, anticipating complications, and guiding more effective treatment strategies in the future.