Scientists are developing a simple blood test that could help predict which patients are most at risk from hypertrophic cardiomyopathy (HCM), the world’s most common inherited heart condition, offering hope of more targeted and timely treatment for millions worldwide.
HCM is a disease of the heart muscle in which the heart wall becomes abnormally thickened, a condition caused by genetic changes that are often passed down through families, and while many people live with few or no symptoms, others face serious complications, including heart failure, dangerous heart rhythm disturbances and sudden cardiac arrest.
The absence of a cure, combined with the difficulty doctors face in identifying which patients are most vulnerable to life-threatening outcomes, has long complicated clinical care.
Researchers from leading institutions, including Harvard and Oxford universities, have now identified a potential way to forecast risk using a routine blood test, a development that could transform how patients with HCM are monitored and treated, The Guardian reported.
In a large study involving around 700 people living with the condition, scientists measured levels of a protein known as N-terminal pro-B-type natriuretic peptide (NT-proBNP), which is naturally released by the heart during pumping but rises when the heart is under excessive strain.
The findings showed that patients with the highest levels of NT-proBNP had poorer blood flow, greater scarring of heart tissue and structural changes associated with a higher likelihood of atrial fibrillation and heart failure, indicating that the protein could act as a reliable marker of disease severity and future risk.
The research also suggests that tracking blood biomarkers may improve understanding of how HCM progresses over time, potentially guiding the development of new therapies aimed at reducing long-term risk. For patients and families living with the condition, the prospect of a straightforward blood test could reduce uncertainty, allow earlier lifestyle adjustments and support better-informed decision-making.