A team of scientists from several universities, including Oxford and Harvard, has developed a groundbreaking blood test that may transform early diagnosis of the world’s most common hereditary heart disease and enable life-saving treatment sooner.
Millions of people worldwide live with hypertrophic cardiomyopathy, an inherited condition in which the heart muscle thickens abnormally, reducing the heart’s ability to pump blood effectively. The disease can lead to heart failure or sudden cardiac death. Common symptoms include shortness of breath, rapid heartbeat, fatigue, and fainting, though in many cases it remains undetected until serious complications arise.
Researchers now say they have created a simple blood test capable of identifying individuals at high risk before symptoms appear. This would allow doctors to tailor treatment early, monitor patients proactively, and potentially intervene before the disease fully develops.
In the study, scientists measured levels of a protein called NT-proBNP (natriuretic peptide) in the blood of 700 patients with hypertrophic cardiomyopathy. Released by the heart as it pumps, elevated levels of this protein may indicate that the heart is under abnormal strain.
Professor Carolyn Hu, lead author of the study and medical director of the Center for Cardiovascular Genetics at Harvard Medical School, explained:
“Continued research into blood markers will lead to a deeper understanding of hypertrophic cardiomyopathy, so that in the future we can offer patients a blood test to determine who is at high or low risk of serious complications. Those at highest risk could receive potentially life-saving treatment, while those at lowest risk can avoid unnecessary intervention.”