Routine Genetic Testing Benefits Patients with Advanced Inherited Heart Muscle Disease

Dilated cardiomyopathy (DCM) is a condition where the heart muscle weakens, causing the heart to enlarge and reducing its ability to effectively pump blood throughout the body. It can develop at any age but is more common around the mid-40s. Symptoms include shortness of breath, fatigue, swollen legs and feet, and irregular heartbeat. In severe cases, it can lead to heart failure or sudden cardiac death due to abnormal heart rhythms. Genetic testing is a crucial tool to identify gene mutations that can cause inherited heart conditions like cardiomyopathy. Despite the knowledge that DCM often runs in families, genetic testing is seldom conducted on patients who have undergone heart transplants or received a left ventricular assist device (LVAD), a mechanical heart pump. Now, a multi-site, five-year study has demonstrated the benefits of routine genetic testing for patients with advanced disease from DCM and their at-risk family members.

The DCM Precision Medicine Study, led by researchers at MedStar Health (Columbia, MD, USA) and colleagues from across the U.S., investigated clinical and genetic data from 1,265 patients across 25 top academic heart failure and transplant programs in the U.S. These programs are part of the Dilated Cardiomyopathy Consortium. The study revealed that DCM patients with advanced heart disease, meaning those who had a heart transplant or an LVAD, were over twice as likely to carry a disease-causing mutation in a relevant DCM gene compared to those without advanced heart disease.

“These study results validate the concept that routine genetic testing performed on these patients allows us to identify their family members who may be at risk of developing DCM and when early signs of disease do appear, we can begin earlier treatment in those family members, perhaps ultimately avoiding the need for either heart transplantation or mechanical circulatory support,” said Mark Hofmeyer, MD, medical director of the Advanced Heart Failure Intermediate Care Unit at MedStar Heart & Vascular institute at MedStar Washington Hospital Center and the first author of the DCM Precision Medicine study.

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