Hypertrophic cardiomyopathy: Researchers are working on a blood test that could identify which patients with hypertrophic cardiomyopathy face the greatest danger of serious complications.
Hypertrophic cardiomyopathy, or HCM, affects millions globally. The inherited condition causes the heart’s walls to grow abnormally thick. While some patients experience minimal symptoms, others develop heart failure, irregular heartbeats or even cardiac arrest. Currently, physicians cannot determine which patients will face severe complications.
A research team from Harvard, Oxford and other institutions studied 700 HCM patients, measuring blood levels of a protein called N-terminal Pro-B-type natriuretic peptide. The heart releases this protein during normal function, but elevated levels indicate the organ is under strain.
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Patients with the highest protein levels showed reduced blood flow, increased scarring and cardiac changes associated with atrial fibrillation and heart failure, according to the study.
Dr Carolyn Ho, who directs the cardiovascular genetics center at Harvard Medical School and led the research, said the test could help doctors “target the right therapies to the right patients at the right time.”
Future applications of blood biomarker research may allow physicians to distinguish high-risk patients who need aggressive treatment from low-risk patients who can avoid unnecessary interventions, Ho explained
Lara Johnson, 34, from Southampton, received her HCM diagnosis eight years ago after experiencing fatigue and breathing difficulties. Her doctor referred her for hospital testing, which revealed the condition. Several relatives on her father’s side later received the same diagnosis.
Johnson described the “constant uncertainty” of living with HCM as one of the condition’s most challenging aspects.
“A simple blood test, which could help identify future risks earlier, would take away so much of that anxiety,” she said. Such a test would help patients prepare, adjust their habits and feel more in control, potentially benefiting entire families.
The British Heart Foundation, which provided research funding, said the test could help patients worldwide. Dr Bryan Williams, the foundation’s chief scientific and medical officer, noted that families want answers after an HCM diagnosis.
The study demonstrates that measuring blood proteins can help predict cardiac function and future disease complications, Williams said. The method may also reveal new treatment approaches for reducing risk in HCM patients.