A revolutionary blood test is on the horizon, promising to predict which individuals living with the world's most common inherited heart condition face the greatest danger from life-threatening complications.
Forecasting the Future of Heart Health
Millions of people globally are affected by hypertrophic cardiomyopathy (HCM), a genetic disease that causes the heart muscle to thicken. While some patients experience few symptoms, others can develop severe complications like heart failure, abnormal rhythms, and cardiac arrest. The challenge for doctors has been the inability to reliably forecast which patients are most at risk.
Now, an international team of scientists from prestigious institutions, including Harvard Medical School and the University of Oxford, has made a significant breakthrough. Their landmark study, funded by the British Heart Foundation, focused on a protein found in the blood called N-terminal Pro-B-type natriuretic peptide (NT-Pro-BNP).
This protein is naturally released by the heart during pumping, but elevated levels signal that the organ is under strain. The researchers measured NT-Pro-BNP in 700 patients with HCM and discovered a crucial link.
A Simple Test with Life-Saving Potential
Patients with the highest levels of the protein were found to have poorer blood flow, more scar tissue, and structural changes in the heart that could lead to atrial fibrillation or heart failure. This finding means a straightforward blood test could soon identify those in the highest danger zone.
Professor Carolyn Ho, the study leader and medical director of the cardiovascular genetics centre at Harvard Medical School, explained the test's potential to transform care. It could help clinicians "target the right therapies to the right patients at the right time."
"People with the highest risk could be targeted for potentially life-saving treatments as they stand to receive the greatest benefit, while those at lowest risk could avoid unnecessary treatment," she added.
Bringing Clarity to Patients and Families
For patients like 34-year-old Lara Johnson from Southampton, who was diagnosed with HCM in 2017, such a test would be transformative. After experiencing breathlessness and fatigue, her diagnosis led to several relatives on her father's side also being identified with the condition.
"One of the hardest parts of living with HCM is the constant uncertainty, never knowing what might change next," Johnson said. "A simple blood test, which could help identify future risks earlier, would take away so much of that anxiety."
She believes it would offer a chance to prepare and adjust lifestyles, providing a sense of control that would benefit entire families.
Professor Bryan Williams, chief scientific and medical officer at the British Heart Foundation, hailed the research. He stated that measuring proteins in the blood could predict heart function and future risk, offering global benefits and potentially pointing toward new treatments for HCM.
