In some families, heart disease occurs more frequently than in the general public.
At Brigham and Women’s Hospital, researchers have spent decades studying heart disease in families to pinpoint genetic changes that lead to the development of inherited heart disease and to introduce new approaches to alter the course of these diseases. Groundbreaking discoveries have resulted in changes to the diagnosis and management of inherited heart diseases, which include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmias, Marfan syndrome, and inherited aortic aneurysms.
Genetic Testing for Heart Disease
Genetic testing can be performed to determine the risk of many genetic heart diseases in family members. Typically, testing begins with the family member who has the most severe signs and symptoms of the disease.
“Our team has pioneered diagnostic testing for patients at risk for genetic forms of heart disease,” said Dr. Christine Seidman, Director of the Cardiovascular Genetics Center at BWH. “We can now determine if an individual carries a dangerous genetic variant and intervene to treat or help prevent damage to the heart.”
If genetic testing 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. Interpreting the results of genetic testing can be very complicated, so it is important for families to work with a team that includes a genetic counselor, as well as specialists who can evaluate and monitor family members for early subtle changes in the heart that can indicate the development of heart disease.
Hypertrophic Cardiomyopathy (HCM)
HCM is one of the most common genetic heart diseases, affecting between one in 500 and one in 1,000 people in the general population. Characterized by an abnormal thickening of the heart muscle, HCM typically affects the left ventricle – the main pumping chamber of the heart. BWH researchers determined that HCM is caused by mutations in a group of related genes within the sarcomere, a network of proteins that make up the molecular motor of the heart and coordinate the contraction and relaxation of the heart muscle. 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.
“We believe that in cases of inherited heart disease, it is extremely important to focus care on the entire family,” explains Dr. Carolyn Ho, Medical Director of the Cardiovascular Genetics Center at BWH. “In addition to developing and delivering therapies that are tailored for patients with inherited heart disease, we work closely with their families to identify those at risk of also developing the disease.”
Preventing Genetic Heart Disease
Preventative measures or therapies may be recommended for family members found to be at elevated risk for inherited heart disease. Devices and medications, for example, may be used to help prevent abnormal heart rhythms. Young people at risk for certain inherited heart diseases may be advised to avoid highly strenuous exercise, such as in competitive sports, to limit strain on the heart.
In the Brigham and Women’s Cardiovascular Genetics Center, our experts are evaluating new ways to prevent the development of inherited heart diseases in at-risk family members. They are currently conducting clinical trials investigating whether certain medications can delay the onset or slow the progression of HCM and genetic dilated cardiomyopathy in select patients.