Five factors predicting death or serious complications in hypertrophic cardiomyopathy, a heart condition where the heart muscle becomes abnormally thick, have been uncovered in a study led by the University of Virginia.
“Hypertrophic cardiomyopathy, with a prevalence of one in 500 in the U.S., is the most frequent cause of sudden cardiac death in young individuals,” explain lead author Christopher Kramer, MD, a researcher at University of Virginia Health, in JAMA.
“Although some patients remain asymptomatic, others develop effort intolerance, exertional angina, progressive heart failure, atrial and ventricular arrhythmias, and sudden cardiac death.”
There is some disagreement about how best to predict risk in patients diagnosed with this condition, which is inherited in 60% of cases, with different factors used for assessment in different places and current guidelines focusing on sudden cardiac death risk and not other serious adverse events such as the risk for heart failure.
This study enrolled 2,698 hypertrophic cardiomyopathy patients from 44 sites across North America and Europe between 2014 and 2017 and followed them for an average of 6.9 years. The participants underwent wide ranging tests on enrollment including cardiac magnetic resonance imaging with core laboratory analysis, genetic testing of 36 cardiomyopathy genes, blood biomarker analysis, and detailed clinical assessments. Patients with pre-existing implantable cardioverter defibrillators, often prescribed to patients with this condition to avert sudden cardiac death, were excluded.
Patients were reviewed once a year by telephone, with an average follow-up time of around seven years. Records were reviewed if events occurred during the study.
Overall, 117 events—death, nonfatal sustained ventricular arrhythmias requiring cardioversion or defibrillation, left ventricular assist device implant or heart transplant—occurred in 104 participants during the follow up period.
Five factors were significant predictors of a poor outcome. These included the extent of scarring on the heart measured by imaging, heart muscle size, and heart chamber size with all three predicting worse outcomes with greater measures. The other two factors were history of heart failure and higher levels of a blood protein marker of heart stress, NT-proBNP.
“Current risk prediction guidelines for hypertrophic cardiomyopathy are imperfect, as they predict only sudden cardiac death, and not heart failure or other fatal and nonfatal cardiac adverse events,” said Kramer in a press statement. “This study is a major advance in that it provides evidence that incorporating these additional assessment methods better predicts risk of adverse outcomes.”
The team plan to continue this work and to develop a risk score as well as to seek external validation from independent databases and researchers using similar measures of risk.
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