Posted by Brigham and Women's Hospital October 26, 2016
Dr. Christine Seidman, Director of the Cardiovascular Genetics Center at Brigham and Women’s Hospital, and her team have developed novel approaches to evaluate and care for patients with inherited heart disease and their families.
In some families, heart disease occurs more frequently than in the general public. Researchers at Brigham and Women’s Hospital have spent years studying heart disease in these families to pinpoint genetic changes that lead to the development of heart 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.”
Examples of inherited heart diseases include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmias, Marfan syndrome, and inherited aortic aneurysms. Caring for someone with an inherited heart disease includes the patient’s family, particularly the patient’s siblings and children. Genetic testing can be performed to determine risk in these family members. Preventative measures or therapies Read More »
Posted by Brigham and Women's Hospital October 8, 2015
Hypertrophic cardiomyopathy most commonly affects the left ventricle, the main pumping chamber of the heart.
Over the past several decades, researchers have discovered that many heart diseases are genetic (inherited), resulting in changes in how these diseases are diagnosed and managed.
“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 Brigham and Women’s Hospital (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.”
One of the most common genetic heart diseases is hypertrophic cardiomyopathy (also known as HCM), which affects between one in 500 and one in 1,000 people in the general population. HCM is characterized by an abnormal thickening of the heart muscle. The left ventricle, the main pumping chamber of the heart, is most commonly affected. 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. Other examples of inherited heart disease include Marfan syndrome, genetic dilated cardiomyopathy, and inherited cardiac arrhythmias.
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