What is the Cardiovascular Genetics Center?
Some cardiovascular disorders are caused by inherited gene mutations. The Cardiovascular Genetics Center helps individuals and families diagnose and treat these genetic conditions – combining cutting-edge research with comprehensive hands-on clinical care.
What types of heart disease may be caused by inherited traits?
The most common inherited cardiovascular diseases are:
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Hypertrophic cardiomyopathy (HCM) involves an unexplained muscle thickening in the ventricles (the heart’s pumping chambers). It is the most common inherited cardiovascular disorder, affecting one in every thousand people. Many people with HCM show no symptoms; when present, however, symptoms may include shortness of breath, tiredness, chest pain, fainting or near-fainting, and/or heart palpitations. Learn more about HCM.
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Dilated Cardiomyopathy (DCM): In DCM, the heart is enlarged, grows weaker, and is less able to pump blood throughout the body. When the heart does not pump properly individuals develop symptoms of heart failure, including shortness of breath, swelling of the ankles and feet, and fatigue. In addition, abnormal heart rhythms (arrhythmias) may develop. Learn more about DCM.
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Inherited Arrhythmias are abnormal heart beats or rhythms caused by gene mutations. Inherited arrhythmias affect the electrical signaling of the heart and can cause symptoms such as faintness, dizziness, and heart palpitations. Learn more about inherited arrhythmias.
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Marfan Syndrome is a genetic disorder of the connective tissue. Because connective tissue is throughout the body, a variety of organs can be involved, including the eyes, skin, bone, and heart. Sometimes people with Marfan syndrome show no symptoms. As the disease progresses, symptoms – which range from nearsightedness to arrhythmias – may become noticeable. Learn more about Marfan syndrome.
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Familial Aortic Aneurysm (FAA) is an inherited disorder in which a section of the aorta starts to stretch and bulge. The aorta is a large blood vessel that carries blood from the heart to the rest of the body. The bulging is called an aneurysm and may occur along the aorta in the abdomen or the chest. Most people with FAA show no symptoms; when present, however, symptoms may include general abdominal pain or discomfort, or pain in the chest or lower back. Learn more about FAA.
How can I determine if my cardiovascular disorder is genetic?
An important step is to collect health information from your family members. Family history is a valuable tool in assessing whether a cardiovascular disorder might be genetic. The genes responsible for some familial cardiovascular disorders have been identified. As such, there are certain individuals who may be appropriate for directed genetic testing of specific disorders. Genetic testing examines a DNA sample – taken from a sample of blood or any body tissue – to test for changes in the genes, called mutations. At the Cardiovascular Genetic Center, physicians and genetic counselors will help you prepare for your genetic tests, explain the results of the tests when complete, and help you make decisions for care based on the test results.
How will diagnosis or treatment differ for me if physicians determine that I have a genetic cardiovascular disorder?
Diagnosis and treatment of genetic forms of cardiovascular disorders are no different than they are for non-genetic forms of the disease. (Individuals with familial dilated cardiomyopathy, for example, are diagnosed and treated in the same manner as those with non-genetic dilated cardiomyopathy.) Still, it is important to recognize that it is a familial disorder, as this will alert other family members to the need for testing. Early diagnosis and treatment can potentially save lives and preserve quality of life. It may, for example, prevent or delay the progression of heart failure. Researchers at the Cardiovascular Genetics Center are at the forefront of new discoveries about the molecular mechanisms that underlie genetic cardiovascular disorders – providing clinicians and patients with valuable information that may not be available elsewhere and suggesting new options for treatment.
What steps, if any, should I take if tests show that I do not have cardiovascular disease, but one or more members of my family do?
If a genetic test is available and confirms that you did not inherit the mutation causing the cardiovascular disease in your family, you do not need further evaluation or treatment for this condition and you are not at risk to pass this condition on to your children. However, your affected family members need longitudinal clinical evaluation and care. If no genetic test is available, you may need to be followed periodically with appropriate clinical evaluations to make sure that you are not developing the condition seen in your family.
What should I do if I have been found to have the mutation causing the cardiovascular disease in my family but I do not show any signs of the disease?
Individuals in this situation should be followed by a physician familiar with the cardiovascular disease in their family to detect and properly manage any symptoms or signs of the disease if, and when, they develop.
What innovative treatments and procedures are offered at the BWH Cardiovascular Genetics Center?
Cardiovascular Genetics Center services include:
- Genetic screening for HCM and other inherited cardiovascular disorders
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Individualized clinical care plans
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Cardiac imaging including echocardiography, cardiac MRI, and nuclear cardiology
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Interventional procedures including hemodynamic studies, alcohol septal ablation, and percutaneous coronary intervention
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Electrophysiology evaluation including device therapy
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State-of-the-art management of heart failure
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Cardiac surgical intervention, including septal myectomy and valve surgery
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Risk stratification for sudden cardiac death
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Genetic counseling
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Expanding research opportunities
Members of our team will work closely with referring physicians to manage each patient’s care through consultation and timely correspondence. New patients are typically seen within one week of referral. Inpatient consultations are also available.
What types of medical experts treat genetic cardiovascular disorders?
The Cardiovascular Genetics Center involves a multidisciplinary team of nationally recognized physicians and scientists working together to combine cutting-edge laboratory research with hands-on clinical care. Because genetic cardiovascular disorders involve more than just heart function, our team includes:
What is the BWH Cardiovascular Center?
The Cardiovascular Center at Brigham and Women's Hospital in Boston offers outstanding personalized care for patients across the entire spectrum of cardiovascular diseases. The Center offers coordinated care in three different areas: cardiovascular medicine, cardiac surgery and vascular surgery.
Learn more about the Cardiovascular Genetics Center team.
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