Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

Research led by a team of investigators from the Universities of Oxford and Virginia, together with 42 other centres across North America and Europe, has found that patients with hypertrophic cardiomyopathy (HCM) may have distinct abnormalities in the heart muscle based on the presence or absence of a genetic mutation.

HCM is an inherited disease, where the heart muscle grows abnormally thick. It is the number one cause of sudden death in young adults and athletes and may also cause symptoms such as chest pain, breathlessness, palpitations and blackout. Genetic testing has become the standard of care in the management of HCM patients, with up to 40% seen to harbour a disease-causing gene mutation. The risk of sudden cardiac death has been reduced due to the development of the Implantable Cardioverter Defibrillator (ICD), a device that can abort sudden cardiac arrest. However, the insertion of an ICD is not without risks, so clinicians need to select the right patients (with the highest risk from the disease) who are most likely to benefit from this therapy. Recently a number of studies have suggested that the extent of scar within the heart muscle, as detected on cardiac magnetic resonance imaging (CMR), can be a powerful prognostic marker for HCM patients. However, many of these studies looked at patients in whom outcomes had already happened (retrospective studies) which may introduce bias in reporting.

The HCM registry (HCMR) study is a 14 million dollar National Heart Lung and Blood Institute (NHLBI)-sponsored study led by Professor Stefan Neubauer, from the University of Oxford, and Professor Christopher Kramer, from the University of Virginia, primarily designed to improve existing risk stratification strategies in HCM patients and to understand the natural history of this disease using CMR. This prospective multi-centre registry study will integrate advanced CMR data, highly sensitive blood biomarkers, genetics - for which Professor Hugh Watkins from Oxford provides the core expertise - and clinical information from 2755 HCM patients, to better predict the risk of sudden death, heart failure and arrhythmias in HCM patients. The baseline results of HCMR, recently published in the Journal of American Cardiology, revealed that HCM patients can broadly be divided into two groups. Those who carry a genetic mutation tended to have a greater burden of scar in their hearts, while those who did not, were found to have less scar but more outflow obstruction. The burden of scar on CMR also correlated with blood biomarkers of risk such as NT-BNP and troponin.

Professor Stefan Neubauer, first author of the manuscript and Director of the Oxford Centre for Clinical Magnetic Resonance Research, University of Oxford, said: “The HCMR study provides a unique resource of clinical, imaging, genetic and blood biomarkers that should, in future, change the way we make decisions about ICD implantations in patients with HCM”

A major strength of the HCMR study is the rich dataset of clinical, imaging, genetic and blood biomarkers obtained from this well-designed and carefully planned prospective study of HCM patients, which will ultimately help to provide a more accurate assessment of risks in HCM patients. Further studies on novel risk prediction models incorporating all these data are now awaited, once sufficient clinical outcomes have occurred.

Read the paper

(Image credit: Dr Betty Raman)

We want to hear about your news!

Publishing a paper? Just won an award? Get in touch with


Similar stories

COVID-19 patients continue to experience symptoms six months after infection

Study investigating the long-term impact of moderate to severe COVID-19 finds that a large proportion of COVID-19 patients previously admitted to hospital continue to experience intrusive symptoms six months following infection.

RDM researchers awarded Oxford-Bristol Myers Squibb Fellowships

The Oxford - Bristol Myers Squibb (BMS) Fellowships Programme continued to demonstrate significant progress over the last year, despite the challenges associated with the global pandemic, including restricted lab access and work from home guidance. Six new Oxford-BMS Fellowships for 2021 were announced.

Changes in blood cell production over the human lifetime may hold clues to patterns of disease

A new paper published this week in Cell Reports reveals that changes in the gene expression of blood stem cells occur across the human lifetime; an important step in the understanding and treatment of blood disorders.