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JACC: Clinical Screening Helps Identify Family Members at Risk for Dilated Cardiomyopathy (DCM)
COLUMBUS, Ohio – Researchers report clinical screening proves valuable for family members of patients who have dilated cardiomyopathy (DCM), a heart muscle disease. The five-year, multi-site study led by The Ohio State University Wexner Medical Center and College of Medicine shows cardiovascular screening identified new DCM-related findings in 1 of 7 first-degree family members (children, siblings or parents). None of them knew they had DCM. The findings did not differ by race, ethnicity or sex.
The study published Monday in the Journal of the American College of Cardiology.
“Most recommendations for family-based screening after a DCM diagnosis have been based on single center studies and had relatively small sample sizes. They also lack racial or ethnic diversity. This is the first large study in this area, and the results underscore the importance of clinical cardiovascular screening for all at-risk first-degree relatives of patients with dilated cardiomyopathy. The study also provides additional information that can be used when talking with DCM patients about the risk of the disease to family members,” said Hanyu Ni, PhD, first author and a research associate professor in the Division of Human Genetics.
With DCM, the heart muscle weakens and the left ventricle enlarges. It’s the most common cause of patients needing a heart transplant and is responsible for up to half of the heart failure cases that result from a weakened left ventricle. Some patients have no symptoms for months or years until severe disease like heart failure develops. Identifying DCM early and starting treatment can help slow its progression and prevent sudden cardiac death.
In the study, 1,365 first-degree relatives of DCM patients were screened at 25 clinical sites in the United States that are part of the DCM Consortium, led by Ray Hershberger, MD, a cardiologist and division director of human genetics at the Ohio State Wexner Medical Center and a researcher at the Dorothy M. Davis Heart and Lung Research Institute. The risk of a family member developing DCM or a DCM partial phenotype by age 80 is estimated at 33%. Partial phenotype is defined as left ventricular enlargement (LVE) or left ventricular systolic dysfunction (LVSD), and each predict disease progression.
There were more first-degree relatives with new diagnoses among ages 45-64 than 18-44, according to the study. Those with hypertension and obesity were also at higher risk of DCM or DCM partial phenotypes, regardless of age. Researchers recommend that patients with negative clinical screening receive additional monitoring because the disease can occur later in life.
“No one has ever done a study quite like this, and it’s highly representative of what would be seen across many cardiology practices,” Hershberger said.
The DCM Consortium was funded by a $12.4 million grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health and a supplemental grant from the National Human Genome Research Institute.
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