Scientists are developing a simple blood test that could help doctors identify which patients with hypertrophic cardiomyopathy (HCM) are at the highest risk of serious complications. HCM is the world’s most common inherited heart condition and affects millions of people globally. The disease causes the heart muscle to become abnormally thick, making it harder for the heart to pump blood efficiently.
HCM is usually caused by changes in one or more genes and is often passed down through families. Some people with the condition live for years without major symptoms, while others experience breathlessness, chest pain, fainting spells, or extreme fatigue. In severe cases, HCM can lead to heart failure, irregular heart rhythms, or sudden cardiac arrest.
The challenge doctors face
One of the biggest problems in treating HCM is uncertainty. There is no cure, and doctors have long struggled to predict which patients are likely to develop life-threatening complications. As a result, some patients may not receive timely treatment, while others may undergo tests or procedures they do not actually need. This lack of clarity has also taken an emotional toll on patients and their families.
What the new blood test looks for
A research team from leading institutions, including Harvard and Oxford, believes a breakthrough may be close. In a major study involving 700 HCM patients, scientists measured levels of a protein called N-terminal Pro-B-type natriuretic peptide (NT-Pro-BNP) in their blood.
NT-Pro-BNP is released by the heart during normal pumping. However, higher levels indicate that the heart is under stress and working harder than usual. The study found that patients with the highest levels of this protein had poorer blood flow, more scarring of the heart muscle and structural changes that raise the risk of atrial fibrillation and heart failure.
Why the findings matter
The results suggest that a simple blood test could help doctors identify high-risk patients much earlier. Those found to be at greater risk could be monitored more closely or given treatment to prevent serious complications. At the same time, patients with lower risk could avoid unnecessary interventions.
Prof Carolyn Ho, the study leader and medical director of the cardiovascular genetics centre at Harvard Medical School, said the goal is to deliver more precise care. She explained that such tests could help doctors offer the right treatment to the right patient at the right time.
Living with uncertainty
For patients, the potential impact is significant. Lara Johnson, 34, from Southampton in the UK, was diagnosed with HCM eight years ago after suffering from breathlessness and fatigue. Later, several of her relatives were also found to have the condition.
She said one of the hardest parts of living with HCM is not knowing what the future holds. Johnson believes a blood test that could predict risk earlier would ease much of that anxiety and help people plan their lives with greater confidence.
Expert reaction and future hopes
The study was funded by the British Heart Foundation. Prof Bryan Williams, its chief scientific and medical officer, said the findings could benefit patients worldwide. He noted that measuring proteins in the blood can offer valuable insight into how the heart is functioning and how the disease may progress.
