Heart scans, blood tests improve inherited heart disease risk prediction, find study
A large international study led by researchers at the University of Oxford and University of Virginia has found that combining heart scans, blood biomarkers and clinical history can improve prediction of serious outcomes in people with hypertrophic cardiomyopathy (HCM), an inherited heart condition linked to sudden cardiac death in younger individuals.
The findings, published in the Journal of the American Medical Association, could help doctors better identify patients at risk of complications beyond sudden cardiac death, including heart failure, dangerous heart rhythm abnormalities and the need for device implantation or heart transplantation.
Current risk prediction guidelines for HCM are limited because they focus mainly on predicting sudden cardiac death, researchers said. The new study suggests that integrating cardiac MRI findings and blood biomarker data into routine assessment may provide a more complete picture of disease progression.
“Current risk prediction guidelines for hypertrophic cardiomyopathy have limitations as they can only predict sudden cardiac death, but not heart failure or other serious cardiac complications,” said Professor Stefan Neubauer from the University of Oxford’s Radcliffe Department of Medicine, one of the study’s chief investigators.
Hypertrophic cardiomyopathy occurs when the heart muscle becomes thicker than normal, potentially obstructing blood flow from the left ventricle and triggering life-threatening rhythm disturbances or heart failure symptoms. The condition is often inherited, though many patients remain asymptomatic, making early risk assessment difficult.
Researchers examined whether newer assessment methods, including contrast-enhanced cardiac MRI, blood biomarker testing, genotyping and health history questionnaires, could improve prediction of adverse cardiac events.
The study enrolled nearly 2,700 patients with HCM across 44 specialist centres in North America and Europe. Participants underwent medical history assessments, blood tests and cardiac imaging, and were followed for an average of seven years.
The researchers found that scarring in the heart muscle, changes in heart muscle weight and function detected through cardiac MRI, a history of heart failure, and elevated levels of the blood biomarker called NTproBNP were associated with fatal and non-fatal cardiac events. Sudden cardiac death outcomes were linked to structural and functional changes in the left ventricle as well as elevated NTproBNP levels.
Professor Neubauer said the study was the largest prospective analysis of HCM to incorporate “standardised, quality-controlled assessments” using cardiac MRI and blood biomarkers. He added that the additional measurements emerged as “powerful risk predictors” for adverse outcomes in patients with the condition.
The study was funded by the National Heart, Lung and Blood Institute in the United States and the National Institute for Health and Care Research Biomedical Research Centre: Oxford.
Professor Hugh Watkins, Radcliffe Professor of Medicine and a study author, described the findings as “a landmark achievement” in establishing the value of cardiac MRI in guiding risk stratification in HCM. “It has taken a major effort to provide definitive data on the value of cardiac MRI in guiding risk stratification in HCM, so I see this as a landmark achievement and one that will shape practice,” he said.
Professor Helen McShane, Director of the NIHR Biomedical Research Centre: Oxford, said the findings could help patients better understand how the disease may affect them in the future. She said the study demonstrated the importance of early assessment in improving long-term management of the condition.
The researchers said integrating imaging, biomarker and clinical history data into routine risk assessment could offer clinicians a fuller understanding of which patients are most vulnerable to severe complications, potentially shaping future approaches to HCM care.
