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Home » Increasing Early Cardiovascular Screenings for Dilated Cardiomyopathy   
Clinical Breakthroughs

Increasing Early Cardiovascular Screenings for Dilated Cardiomyopathy   

By Melissa RohmanMay 12, 2023
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Jane Wilcox, MD, ’15 MSc, ’10, ’11 GME, associate professor of Medicine in the Division of Cardiology, was a co-author of the study published in Circulation.

An informational communications tool provided to patients with dilated cardiomyopathy helped increase cardiovascular screenings in their first-degree relatives who have a higher risk of developing the genetic disease, according to findings published in Circulation. 

Dilated cardiomyopathy — when the heart muscle weakens and the left ventricle enlarges, losing its ability to contract and pump enough blood into the body — is one of the most common types of heart failure in the U.S., occurring mostly in adults younger than 50, according to the American Heart Association. Previous work has also found that idiopathic dilated cardiomyopathy, those cases with an unknown cause, may have a genetic basis. 

For those diagnosed with dilated cardiomyopathy, first-degree relatives are highly encouraged to get cardiovascular screenings and additional genetic testing. Although these individuals can initially present as asymptomatic, they are also at risk of developing advanced diseases such as heart failure, blood clots or arrhythmias.  

Oftentimes, however, patients with dilated cardiomyopathy are ill-equipped with resources to help them share important genetic information that can motivate their relatives to get screened. Fears surrounding insurance coverage are also an obstacle for relatives of these patients, said Jane Wilcox, MD, ’15 MSc, ’10, ’11 GME, associate professor of Medicine in the Division of Cardiology and a co-author of the study. 

“In the case of life insurance, you actually can be discriminated against; You can be asked if you have a genetic or inherited condition, in which case you would have to pay higher premiums, or you might be denied life insurance. So, there’s a lot of barriers and we have to educate our patients about the benefits and the risks and how to go about it,” Wilcox said.  

As part of the larger Dilated Cardiomyopathy (DCM) Precision Medicine Study, Wilcox and her collaborators developed Family Heart Talk, a booklet designed to help individuals communicate their genetic information and the importance of cardiovascular screening to their first-degree relatives. The booklet features different visuals and explanations of the evaluation and care of patients with dilated cardiomyopathy, and how cardiac screening of asymptomatic family members can promote early disease detection.  

In the current study, between June 2016 and March 2020 more than 1,200 patients from academic heart failure/heart transplant programs belonging to the DCM Consortium were randomized to receive the booklet or only their usual care without additional informational tools. 

Overall, patients who received the booklet had more eligible first-degree relatives who completed screening (19.5 percent) than those who did not receive the booklet (16 percent). 

While the study demonstrated an increase in cardiovascular screenings, there is still more work to be done, according to Wilcox.  

“It’s still around a third of people who got screened, so we have to do better,” Wilcox said. “We need to understand what worked for those who did get screened, what were the barriers and facilitators, and then look at implementation strategies of the booklet and do we need different strategies for different patient populations.”  

This work was supported by the National Heart, Lung, and Blood Institute and a supplemental grant from the National Human Genome Research Institute. 

Cardiology Medicine Patient Care Research
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