Cardiovascular Genetics Center Continues to Lead the Way

DNA helix strand made of waterThe team at Brigham Health’s Heart & Vascular Center have been pioneers in cardiovascular genetics since the field’s inception in the 1980s when Jon and Christine Seidman discovered the genetic cause of hypertrophic cardiomyopathy. Since that time, they have continued to lead innovation and growth, both in fundamental discovery and clinical practice.

“Cardiovascular genetics is really one of the great Brigham stories,” said Carolyn Ho, MD, Medical Director of the Cardiovascular Genetics Center. “The Seidmans pioneered the field and we have since evolved into truly comprehensive and multidisciplinary center. In addition to groundbreaking basic science research, we are leading pivotal clinical research studies, and provide state-of-the art care to patients and their families. We currently have a team of four dedicated cardiologists on staff who focus on hypertrophic cardiomyopathy and other types of inherited cardiovascular disease (dilated and arrhythmogenic cardiomyopathy, inherited arrhythmias, Marfan syndrome and aortopathies), and we collaborate with our colleagues in cardiac surgery, interventional cardiology, electrophysiology, pediatric cardiology and maternal fetal medicine to provide a full spectrum of care for patients.”

Family-Centered Approach through a Unique Partnership with Pediatric Cardiology

The center takes a comprehensive and multidisciplinary approach to treating each family member that may be affected by genetic cardiovascular disease. “We offer a holistic, family-centered approach to complex cardiovascular conditions,” said Dr. Ho.

For younger family members, the center collaborates with pediatric cardiologists at Boston Children’s Hospital. “When we identify children with hypertrophic cardiomyopathy or other inherited heart disease, we can refer them to our colleagues for specialized pediatric care,” said Dr. Ho. “Because we have the advantage of being geographically adjacent to Boston Children’s and longstanding research and clinical collaborators, this approach is quite unique to our program.” The teams have been working together for decades to provide seamless care for families across generations.

Genetic Testing Guides Care

“First, we review each patient’s history and do a complete assessment of symptoms and potential risks,” said Ho. Then patients meet with a genetic counselor to complete a detailed family history and determine which family members are at risk and require further evaluation. Genetic testing can be pursued to try to identify the genetic cause of the disease and guide more focused care.

“Once we have all the clinical and genetic information, we discuss everything as a team, and come up with a consensus strategy for moving forward, so the family gets a consistent message across the board,” said Dr. Ho. “We also educate families to make sure they truly understand the nature of their disease and are engaged as partners in their care.”

Genetic testing allows the team to pinpoint which relatives are at risk. “If we can identify the genetic mutation that has caused the family’s disease, we can determine which family members need to be followed. Then we develop individualized therapies to address their particular symptoms, risk profile, and optimize their quality of life,” said Ho. “Relatives who do not carry the mutation can be reassured and largely dismissed for follow-up care, which is an important piece.”

Surgical Interventions

Most patients with hypertrophic cardiomyopathy do well with medical management, but a small subset may require surgical intervention. “Surgery can be performed safely and is highly effective for the management of specific forms of hypertrophic cardiomyopathy, if medical therapy is no longer effective” said Prem Shekar, MD, Chief of Cardiac Surgery. “We take a thoughtful approach and choose patients carefully, making sure they have been offered the best medical therapy first, and feel confident that they are going to benefit from surgery.”

Surgery remains the primary modality of intervention and options include septal myectomy or extended septal myectomy to remove the excess tissue that is causing the obstruction of blood. “This is the standard operation for hypertrophic cardiomyopathy and our outcomes have been excellent,” said Dr. Shekar.

Another option for treatment is alcohol septal ablation, which is performed in the interventional catheterization laboratory. This treatment involves the injection of alcohol into the specific arteries supplying blood to the thickened and obstructing heart muscle to produce a controlled heart attack, causing the muscle to shrink, providing relief of symptoms. “Alcohol ablation is a viable option for select patients who are at high risk for surgery”, said Dr. Shekar.

Leaders in Clinical Research

For the past 20 years, the team at the Brigham have built upon tradition and have been leaders in clinical research. “We’ve been the leading center for clinical trials that test new treatments,” said Dr. Ho. “Using this knowledge and insights gained, our ultimate goal is to be able to prevent at-risk children from developing the disease.”

Dr. Ho is currently leading a multi-center clinical trial looking at disease modification. “This strategy poses huge challenges, but with a combination of the fundamental basic science and the clinical research we are striving for that goal—and we’re pioneering those efforts here at Brigham and Women’s,” she said.

Dr. Ho also directs the largest multi-center, collaborative registry of patients with hypertrophic cardiomyopathy, the SHaRe registry, with more than 7,000 patients from centers around the world, including the Brigham. “We’re really hoping the registry will help us better understand the natural history of the disease and help predict prognosis- figuring out why some patients do poorly while others do well,” said Dr. Ho.

Drs. Ho and Shekar agree that the strength of the program lies in its unique combination of innovative research, family-centered approach, and the expertise of a highly collaborative team.

“We provide a truly multidisciplinary approach, and have a team of thoughtful, dedicated clinicians who are focused on working together to provide the best care possible to our patients and their families,” said Dr. Ho.

To refer a patient to the Cardiovascular Genetics Center, please contact a patient coordinator at (617) 732-7678 or make a referral online.