A large international study funded by the National Institutes of Health (NIH) has developed a new risk assessment model that more accurately predicts adverse outcomes in hypertrophic cardiomyopathy (HCM), a heart condition affecting about 1 in 500 people and often linked to sudden cardiac death.
The study, known as the Hypertrophic Cardiomyopathy Registry and supported by the NIH’s National Heart, Lung, and Blood Institute (NHLBI), incorporated prospective clinical data, cardiac magnetic resonance imaging (MRI), and blood biomarkers to improve prediction of serious cardiac events beyond sudden cardiac death alone. Results were published in JAMA.
Comprehensive assessment improves outcome prediction
HCM is characterized by abnormal thickening of the heart muscle, particularly in the left ventricle, which can impair blood flow and lead to heart failure symptoms or dangerous arrhythmias. While many patients remain asymptomatic, identifying those at higher risk remains critical.
The researchers enrolled nearly 2,700 patients from 44 specialized centers across North America and Europe. They gathered medical histories, conducted blood tests—including measuring NTproBNP, a heart failure biomarker—and performed contrast-enhanced cardiac MRI, then followed participants for an average of seven years.
The study found that integrating imaging features such as myocardial scarring and left ventricular function, along with clinical history of heart failure and elevated biomarker levels, significantly improved prediction of both fatal and nonfatal cardiac events. Cardiac MRI and blood biomarkers were particularly useful in assessing risk of sudden cardiac death compared to prior methods relying mainly on clinical factors.
Implications for clinical practice
“Current guidelines focus mostly on predicting sudden cardiac death and often miss risks of other serious complications like heart failure,” said Christopher Kramer, M.D., the study’s principal investigator and cardiologist at the University of Virginia Health System. “Our findings support adopting cardiac MRI and blood biomarker testing into routine risk assessments for HCM patients.”
David Goff, M.D., Ph.D., acting director of NHLBI, highlighted the potential impact of this research, stating, “Improved risk prediction tools can guide personalized treatment decisions and ultimately improve outcomes for patients living with this potentially life-threatening condition.”
Background
Hypertrophic cardiomyopathy is a genetic disorder marked by enlargement and thickening of the heart muscle without an obvious external cause such as high blood pressure. It is a leading cause of sudden cardiac death in young adults and athletes. Existing risk models primarily predict sudden cardiac death but do not fully capture other adverse outcomes like heart failure progression or need for device implantation.
The NHLBI HCM Registry was designed to address these gaps by collecting detailed clinical, imaging, and genetic data on a large, diverse patient population to develop more comprehensive risk prediction tools.
Sources
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