A genetic score can predict which heart disease patients are at risk of sudden cardiac death

A genetic score can predict which heart disease patients are at risk of sudden cardiac death

ANGELS – Associated with about 300,000 deaths in the U.S. each year, sudden cardiac arrest (or sudden cardiac death) is an electrical disturbance in the heart that can lead to a sudden loss of heart function, breathing, and consciousness. Groundbreaking new research has now found that modern medicine may soon be able to identify patients at highest risk of developing sudden cardiac death.

The study authors, from the Smidt Heart Institute at Cedars-Sinai, used a polygenic risk score that has previously been shown to predict coronary artery disease. However, this latest work is the first ever to suggest that the same risk score is also effective in identifying patients with coronary artery disease who are most at risk of sudden cardiac death.

The findings show that patients with coronary artery disease without severely impaired cardiac function has the highest polygenic risk score, meaning a 77% increased risk of sudden cardiac death.

“To better predict and prevent sudden cardiac death, we must first understand the genetic link between it and coronary artery disease,” first study author Roopinder Sandhu, MD, MPH, associate professor of cardiology, said in a news release. “We found that incorporating information from this genetic risk score improved our ability to predict sudden death beyond the contributions of other known risk markers. Most interestingly, genetics was able to identify patients in whom sudden death was more likely to reduce their life expectancy.”

Patients may have no warning that something is wrong

While heart attacks or myocardial infarctions are usually the result of blocked coronary arteries blocking blood flow to the heart, sudden cardiac death usually occurs as a result of sudden and erratic electrical activity that disrupts the pumping of the heart. In many cases, the patient has little or no warning. Sudden cardiac arrest can result in death within minutes if the patient is not resuscitated quickly.

Coronary artery disease is the most common cause of sudden cardiac death. According to Dr. To Sandhu, the study may one day help more effectively identify patients who stand to gain the most from life-saving therapies such as a defibrillator.

Today, the vast majority of sudden cardiac deaths (70%) occur in people who do not actually meet official guidelines for prevention with defibrillator therapy. This constitutes double medical malpractice; not only are doctors neglecting the patients most at risk of sudden cardiac death, but most defibrillators are targeting patients with advanced heart disease. Unfortunately, these individuals are much less likely to enjoy the health benefits of a defibrillator given their limited life expectancy.

This work is based on data provided by the PRE-DETERMINE observational study sponsored by the National Institutes of Health. This project aimed to more accurately identify those at increased risk of sudden cardiac death among a larger population of coronary artery disease patients who do not have advanced heart disease.

“This study suggests that there is an opportunity to identify patients at highest risk of sudden cardiac death and then offer meaningful preventative treatment solutions such as a defibrillator. Based on our pivotal research, we now have the foundation to do just that,” concludes Christine Albert, MD, MPH, Chair of Cardiology at the Smidt Heart Institute.

The study is published in Journal of the American College of Cardiology.

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