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A large international study led by researchers at the University of Oxford and the University of Virginia (USA) has identified a new model for predicting outcomes for hypertrophic cardiomyopathy (HCM) – a heart condition that is the most frequent cause of sudden cardiac death in younger individuals.

Graphics of a heart with double helix in the background. © Image by kjpargeter on Freepik

The findings demonstrate that incorporating clinical history, imaging and blood biomarker data into a risk assessment can improve prediction of adverse cardiac events in people with HCM.

The study was funded by the National Heart, Lung and Blood Institute (NHLBI) in the USA and the National Institute for Health and Care Research (NIHR) Biomedical Research Centre: Oxford (BRC Oxford).

‘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 two chief investigators of the study.

‘This is the largest prospective study of this disease that has incorporated standardised, quality-controlled assessments with cardiac MR imaging (MRI) and blood biomarkers. Our results show that these additional measurements provide powerful risk predictors of adverse outcomes in HCM,’ said Professor Neubauer, who leads the BRC Oxford’s Imaging Theme.

Better risk predictions needed for life-threatening heart condition

Hypertrophic cardiomyopathy occurs when the heart muscle becomes larger and thicker than normal, which can block the outflow of the left ventricle, and can lead to rapid, life-threatening heart rhythm abnormalities and to heart failure symptoms. It is often inherited, and many people with the condition are asymptomatic, highlighting the need for better risk prediction.

Researchers in this study wanted to see if integrating new methods into assessment - including contrast-enhanced cardiac MRI, blood sampling for biomarkers and genotyping, and a health history questionnaire - could more accurately predict adverse events such as sudden cardiac death, heart failure, nonfatal arrythmias, and the need for device implantation or heart transplantation.

Study followed 2700 patients over 7 years

The study enrolled close to 2,700 patients with HCM in North America and Europe at 44 sites that had expertise in HCM and cardiac MRI. The researchers collected medical history, blood tests, and cardiac imaging, and followed the study participants for seven years on average. They determined that several predictors, such as scarring, weight and function of the heart muscle measured by cardiac MRI, history of heart failure, and higher levels of a blood biomarker (NTproBNP), were associated with fatal and nonfatal cardiac events. Sudden cardiac death outcomes were predicted by structure and function of the left ventricle and the same blood biomarker. In short, they showed that integrating these measurements into risk assessment gave fuller and more accurate predictions of adverse events.

‘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.’ said Professor Hugh Watkins, Radcliffe Professor of Medicine and a study author.

Professor Helen McShane, Director of NIHR BRC: Oxford added: ‘This study is good news for those who have HCM. It demonstrates that an early assessment allows patients to understand how their condition may affect them in the future. Congratulations to our BRC imaging experts and their collaborators on what promises to be an important advance in improving the lives of patients with this disease.’

The study is published in the Journal of the American Medical Association.