A new study led by UVA Health researchers could change how doctors identify a dangerous genetic heart disease, potentially helping prevent sudden cardiac death while reducing unnecessary treatments for lower-risk patients.
Researchers found combining cardiac MRI scans with blood test data could better predict which patients with hypertrophic cardiomyopathy, or HCM, face the highest risk of serious complications such as heart failure.
The genetic disease, which affects millions around the world, causes thickened heart muscles that can gradually lead to scarring. That scarring can disrupt the heart’s electrical system and increase the risk of dangerous heart rhythms.
HCM has been known to cause sudden death in otherwise healthy patients, even young athletes, which has driven research meant to help identify high risk markers.
The study followed more than 2,700 patients across North America and Europe for an average of seven years. Researchers analyzed patients’ cardiac MRI scans, blood biomarkers, medical history and genetic testing data to identify which factors most strongly predicted poor outcomes.
Christopher Kramer, chief of the cardiovascular division at UVA Health and the study’s lead researcher, said previous studies often relied on retrospective data, meaning researchers reviewed medical records that had already been collected from previous clinical care.
He said the study was among the first large prospective studies to track HCM patients over time and identify which combination of factors best predicted serious complications and death.
Kramer and the team found several factors were strongly associated with higher risk, including the amount of scar tissue visible on cardiac MRI scans, the overall mass of the heart muscle and levels of a blood biomarker called NT-proBNP, which reflects pressure and injury within the heart.
Kramer found patients with larger amounts of scar tissue visible on MRI scans faced sharply higher risks of dangerous outcomes. Every 10% increase in scar tissue nearly doubled the risk, according to the study.
The model was about 77% accurate in predicting patient risk.
“That’s very high for this kind of model,” Kramer said.
He said the team are now developing a risk calculator based on the findings and plan to test it using another large patient database, which may eventually influence future treatment guidelines for HCM patients.
“It points out that every patient who is newly diagnosed with HCM should have a cardiac MRI study and blood drawn for NT-proBNP to assess their risk,” he said.
Cardiac MRI technology is widely available at large medical centers but remains less accessible in some rural areas, Kramer said.
The research may also help doctors better determine which patients actually need implantable cardioverter defibrillators, or ICDs. The devices can prevent sudden death by correcting dangerous abnormal heart rhythms, but they also carry risks including infection, bleeding and inappropriate shocks.
Data shows hypertrophic cardiomyopathy affects an estimated one in every 200 to 300 people worldwide. Kramer said the disease is being diagnosed more frequently as imaging technology improves.
