Blood Test May Help Identify High-Risk Patients With Inherited Heart Disease

Scientists are developing a simple blood test that could help doctors identify which patients are most at risk from hypertrophic cardiomyopathy (HCM), the world's most common inherited heart condition, according to The Guardian.

HCM affects millions of people globally. It is caused by changes in one or more genes and is usually passed down through families. The condition leads to abnormal thickening of the heart muscle, making it harder for the heart to pump blood effectively, as per the report.

While many people with HCM live normal lives with few or no symptoms, others face serious complications. These include heart failure, irregular heart rhythms and, in severe cases, sudden cardiac arrest. At present, there is no cure for the disease, and doctors find it difficult to predict which patients are most likely to develop life-threatening problems.

In a major study, researchers from leading institutions, including Harvard and Oxford universities, tested a new way to assess risk using a blood marker. The team studied around 700 patients with HCM and measured levels of a protein called N-terminal pro-B-type natriuretic peptide (NT-pro-BNP).

NT-pro-BNP is released by the heart during normal activity, but higher levels indicate that the heart is under strain. The study found that patients with the highest levels of this protein had poorer blood flow, more scar tissue in the heart, and structural changes linked to atrial fibrillation and heart failure.

According to the researchers, a blood test measuring NT-proBNP could help doctors closely monitor high-risk patients and offer timely, potentially life-saving treatment. Professor Carolyn Ho of Harvard Medical School said the test could allow doctors to provide "the right treatment to the right patient at the right time."

She added: "Continued studies on blood biomarkers will lead to better understanding of HCM so that, in future, we can offer our patients a blood test to identify who is at high versus low risk of experiencing serious consequences of the disease."

"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."

According to The Guardian, Lara Johnson, 34, from Southampton, was diagnosed with hypertrophic cardiomyopathy (HCM) after experiencing breathlessness and fatigue eight years ago. Several members of her father's family were later found to have the same condition. Johnson said living with HCM brings constant uncertainty, and a simple blood test to assess future risks could reduce anxiety and help patients plan their lives better. British Heart Foundation chief Prof Bryan Williams said the test could benefit patients globally by predicting heart function, future complications and offering new insights for improved treatment options.