The Cardiovascular Genetics Center at Brigham and Women’s Hospital (BWH) offers comprehensive evaluation, diagnosis, and management for individuals at risk for inherited cardiac disorders. Center Director Christine E. Seidman, MD, says, “Over the past several decades there has been rapid growth in under standing of the genetic basis of a wide range of cardiovascular disorders. Advances in our knowledge of the basic mechanisms and clinical expression of gene defects have redefined our understanding of heart failure and presented, perhaps for the first time in history, an opportunity to fundamentally change the way we manage patients and families at risk for inherited heart disease.” For more than a decade, The Seidman Laboratory at Brigham and Women’s Hospital has been at the forefront of research on the molecular basis of inherited cardiovascular disease. Dr. Seidman says, “This is one of only a handful of centers in the world where we have the ability to harness innovative genetic technologies to unravel the molecular and genetic basis for cardiac disease and to apply our knowledge to enhance patient care.”
Genetic risk versus genetic disease
The diagnosis of a genetic disease has significant implications for family members as well as for the patient. Carolyn Ho, MD, Medical Director of the Cardiovascular Genetics Center, says, “We strongly counsel our patients to notify family members, as they may be at risk even though they do not have apparent clinical disease. Our task is to determine, through clinical and genetic assessment, which family members are at risk and which actually have genetic disease, and to counsel and manage each appropriately.” Drs. Ho and Seidman work closely with Barbara McDonough, RN, Research Coordinator in providing patients and families research opportunities that promote further discovery of the causes and cures for cardiovascular genetic disease.
Family screening
Allison Cirino, MS, Program Coordinator and Genetic Counselor, helps at-risk family members consider the advantages and drawbacks of genetic testing, understand the results of genetic testing, and make care choices based on test results. If an individual carries a gene mutation for a cardiac disease but is currently asymptomatic, Center clinicians advise close monitoring by an expert in the particular disease. Often early medical intervention can prevent or delay the onset of disease, and careful longitudinal evaluation can prevent or minimize the incidence of high-risk cardiac events and sudden death. In addition, they advise that this group of patients with pre-clinical disease may need to make decisions about limiting or changing their activities to protect themselves and take steps to protect future children by taking advantage of services such as prenatal counseling.
Multidisciplinary team
A team of experts in cardiac subspecialties including advanced heart disease, electrophysiology, interventional cardiology, and cardiac surgery provide the highest level of clinical care. In addition, specialists in radiology, rheumatology, ophthalmology, obstetrics and gynecology, and pediatric cardiology care for patients with the full spectrum of clinical problems that may arise in patients with inherited cardiac disease at all ages and stages of life.
Collaborative care
Members of the cardiovascular genetics team design customized care plans based on risk and clinical status for each patient. Some patients may be adequately managed in their communities, and some with persistent symptoms or more serious disease may require more advanced care. In either case, Center clinicians work closely with referring physicians to manage each patient’s unique needs. New patients can typically be seen within one week, and inpatient consultations are available. If you need assistance with a patient referral, call 1-800-MD-TO-BWH
Comprehensive Care
Diagnosis and treatment for genetic forms of cardiovascular disease are identical to those for acquired disease, and patients of the Cardiovascular Genetics Center have access to all the diagnostic and treatment services of Brigham and Women’s Hospital, including:
Individual genetic screening with clinically-approved DNA analysis;
Invasive and non-invasive diagnostic modalities (cardiac catheterization, echocardiography, cardiac MRI and PET imaging, and nuclear cardiology);
Risk stratification for sudden cardiac death;
Family screening;
Customized care plans;
Genetic counseling;
State-of-the-art treatment for arrhythmia pharmacologic manipulation and device therapy, including ICDs and bi-ventricular pacing;
Treatment for advanced heart failure (tailored medical therapy, left ventricular assist devices, and cardiac transplantation);
Cardiac surgical intervention (alcohol septal ablation, surgical myectomy, and valve surgery.)
Indications for Referral
The Cardiovascular Genetics Center provides services for patients who have inherited cardiac disorders including:
Inherited hypertrophic cardiomyopathy (HCM);
Familial dilated cardiomyopathy (DCM);
Inherited arrhythmias including QT syndrome; Inherited aortic aneurysms; Marfan syndrome.
Comprehensive services are also provided for patients with elevated risk for genetic cardiovascular disease due to family history that includes:
Unusual, although not necessarily identifiable, cardiac events; Sudden unexpected death in a young person.
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