Heart scan and blood test improve risk prediction for inherited heart condition, major study finds

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.

ENDS

ABOUT:

The National Institute for Health and Care Research (NIHR) Biomedical Research Centre: Oxford is based at the Oxford University Hospitals NHS Foundation Trust and run in partnership with the University of Oxford.

The mission of the National Institute for Health and Care Research (NIHR) is to improve the health and wealth of the nation through research. We do this by:

• funding high quality, timely research that benefits the NHS, public health and social care;
• investing in world-class expertise, facilities and a skilled delivery workforce to translate discoveries into improved treatments and services;
• partnering with patients, service users, carers and communities, improving the relevance, quality and impact of our research;
• attracting, training and supporting the best researchers to tackle complex health and social care challenges;
• collaborating with other public funders, charities and industry to help shape a cohesive and globally competitive research system;
• funding applied global health research and training to meet the needs of the poorest people in low- and middle-income countries.

NIHR is funded by the Department of Health and Social Care. Its work in low- and middle-income countries is principally funded through UK Aid from the UK government.

Radcliffe Department of Medicine, University of Oxford

The Radcliffe Department of Medicine’s vision is to use science to support a healthier, longer life for all. It aims to improve health through cross-disciplinary research to understand shared mechanisms of disease and to accelerate the transition from scientific discovery to clinical care. RDM has internationally renowned programmes in cardiovascular and metabolic medicine, as well as molecular medicine, including immunology and haematology.’

https://www.rdm.ox.ac.uk/

UVA Health, USA

UVA Health is an academic health system that recently expanded to include four hospitals across Charlottesville, Culpeper and Northern Virginia, along with the UVA School of Medicine, UVA School of Nursing, UVA Physicians Group and the Claude Moore Health Sciences Library. With more than 1,000 inpatient beds, approximately 40,000 inpatient stays annually and more than 1 million outpatient encounters annually at UVA Health, more than 1,000 employed and independent physicians provide high-quality, comprehensive and specialized care to patients across the Commonwealth and beyond. Founded in 1819 as just the 10th medical school in America, the UVA School of Medicine – with 20 clinical departments, nine research departments and seven research centers – consistently attracts some of the nation’s most prominent researchers to develop breakthrough treatments to benefit patients around the world.

uvahealth.com. 

About the National Heart, Lung, and Blood Institute (NHLBI), USA: NHLBI is the global leader in conducting and supporting research in heart, lung, and blood diseases and sleep disorders that advances scientific knowledge, improves public health, and saves lives.

About the National Institutes of Health (NIH), USA: NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.