At Brigham and Women’s Hospital, new research on the genetic roots of some inherited forms of heart disease is helping physicians to better target cardiovascular care with a family-centered approach.
Over the past decade, the discoveries—around such conditions as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmias, Marfan syndrome, and inherited aortic aneurysms—have led to new genetic testing and targeted treatment approaches.
“We can now determine if an individual carries a dangerous genetic variant and intervene to treat or help prevent damage to the heart,” notes Christine Seidman, MD, Director of the Cardiovascular Genetics Center at the Brigham.
In some families, heart disease occurs more frequently than in the general public—for instance, first-degree relatives (parents, siblings, and children) of people with HCM have a 50 percent chance of inheriting the disease-causing mutation and developing HCM as well. Typically, genetic testing begins with the family member who has the most severe signs and symptoms of the disease; if it confidently identifies the mutation responsible for causing the condition in the most affected family member, more focused follow-up testing can be extended to other at-risk family members.
“We believe that in cases of inherited heart disease, it is extremely important to focus care on the entire family,” explains Carolyn Ho, MD, Medical Director of the Cardiovascular Genetics Center at the Brigham.
Concurrent with the research into genetic risk and diagnosis, investigations at the Center are also focused on prevention, examining whether certain medications can delay the onset or slow the progression of HCM and genetic dilated cardiomyopathy in select patients.
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