A new study is reshaping how doctors assess and treat hypertrophic cardiomyopathy (HCM), the most common cause of sudden cardiac death in young people.
HCM, a thickening of muscle in the heart’s left ventricle, affects as many as one in 500 people worldwide. Patients face increased risk of fatal and non-fatal complications such as atrial fibrillation, heart failure, stroke and sudden cardiac death.
For the first time, researchers combined a new set of biomarkers that greatly improve the prediction of early HCM-related deaths. The findings, published in JAMA on May 11, come from the HCM Registry study, which followed nearly 2,750 patients at more than 40 research sites over seven years.
Dr. William S. Weintraub, recently retired director of Population Health Research at MedStar Health Research Institute and professor of medicine at Georgetown University, directed the Data Coordinating Center for the study.
“While some HCM patients have no symptoms, many develop chest pain, shortness of breath, heart failure, and life-threatening arrhythmias over time,” Weintraub said. “This work will directly lead to clinicians identifying high-risk HCM patients earlier and potentially saving lives.”
The study, funded by the National Institutes of Health’s National Heart, Lung and Blood Institute and industry partners, was led by principal investigators from the University of Virginia School of Medicine and the University of Oxford.
Researchers found that adding cardiac magnetic resonance imaging (CMR) and blood test data to traditional clinical and genetic risk assessment more accurately predicted heart failure, stroke and sudden cardiac death over the long term.
CMR more precisely identified the amount of dense scar tissue in the left ventricle, which is strongly associated with deadly HCM complications. Pairing CMR with a blood test for N-terminal pro B-type natriuretic peptide (NT-proBNP) — a biomarker previously associated with HCM deaths — revealed the highest-risk patients.
“For many high-risk HCM patients, receiving treatment at the right time may reduce their chances of early death,” Weintraub said. “On the other hand, lower-risk patients can be spared from unnecessary layers of care.”
Some HCM patients currently receive an implantable cardioverter-defibrillator (ICD) to correct potentially deadly abnormal heart rhythms. The new findings suggest some patients may be able to forgo ICDs that are recommended under current guidelines.
The HCM Registry study has already generated 16 additional research papers on the condition, with several more in progress.
MedStar Health operates multiple facilities across the Baltimore-Washington region, including locations easily accessible to families in Calvert, Charles and St. Mary’s counties. The research has direct relevance for Southern Maryland residents, where heart disease remains a leading health concern and many families receive care through MedStar’s network.
The study’s emphasis on better risk prediction could help local cardiologists more accurately identify patients who need aggressive intervention while avoiding unnecessary procedures for those at lower risk.
This research was supported by the National Institutes of Health’s National Heart, Lung and Blood Institute, Oxford NIHR Biomedical Research Centre, Cytokinetics Inc. and the Frederick Thomas Fund. MedStar Health also received support from Bristol Myers Squibb.
