Cardiovascular Genetics Program

The Cardiomyopathy Genetics Clinic, as part of the Cardiovascular Genetics Program, provides specialized care for individuals with suspected or diagnosed genetic (inherited) cardiomyopathies. Genetic evaluation can provide an accurate diagnosis and inform prognostic, treatment, and reproductive planning for patients and their families. 

Conditions We Treat 

We specialize in genetic evaluation of numerous conditions, including those listed below. It is important to note that patients may experience these conditions very differently. You should speak with your cardiologist at Mass General about your particular condition to learn about a personalized treatment approach. 

• Hypertrophic cardiomyopathy (HCM): A condition in which the heart muscle of the left ventricle is thicker than normal. This may be called an “enlarged heart”. About 2/3 of cases of familial HCM have an identifiable genetic cause. 
• Dilated cardiomyopathy (DCM): A condition in which the left ventricle pumping function is decreased (reduced ejection fraction) and the heart enlarges (dilates). About 1/3 of cases of familial DCM have an identifiable genetic cause.  
• Peripartum cardiomyopathy (PPCM): A condition in which heart muscle weakness is diagnosed in the last month of pregnancy or the months following delivery. Originally thought to represent a specific cardiac entity, recent research has found that sometimes there is an identifiable genetic cause. 
• Arrhythmogenic cardiomyopathy (ACM) including right ventricular cardiomyopathy (ARVC) and biventricular or left-dominant ACM: A condition in which the heart muscle of one or both ventricles may be replaced by fatty tissue and scar over time. This can cause abnormal heart rhythms called arrhythmias. A genetic cause for someone with a clinical diagnosis of ARVC can be identified about 1/2 the time. Recent research has found that arrhythmogenic cardiomyopathies can affect both the right and left ventricles, with some genes having predilections for one ventricle or the other. 

Cardiomyopathies can affect the ability of the heart to pump blood to the body leading to shortness of breath and leg swelling, can cause palpitations due to extra heart beats, and can cause arrhythmias that can cause stroke or sudden death. Cardiomyopathy can be a result of other factors in addition to genetic factors, such as uncontrolled high blood pressure, chemotherapy and iron overload. Our program has expertise in distinguishing among the many potential contributors to cardiomyopathy. 

Experienced Physicians and Genetics Expertise 

The Mass General Familial Cardiomyopathy Clinic is structured to provide patients with comprehensive and informative care. The clinic is directed by Christopher Newton-Cheh, MD, MPH and Krishna Aragam, MD, MS who also conduct leading-edge scientific cardiovascular research at Mass General. Our clinicians are faculty of Harvard Medical School and are committed to providing expert care and establishing new best practices for the treatment and prevention of cardiomyopathy. 

Our comprehensive care includes: 

• Genetic testing and counseling 
• Risk stratification and advanced cardiovascular lab testing 
• Medical treatments 
• Noninvasive cardiovascular imaging 
• Referral for advanced therapies such as left ventricular assist devices or heart transplantation in patients with advanced cardiomyopathy 

The Arrhythmia Genetics Clinic, part of the Massachusetts General Hospital Corrigan Minehan Heart Center and affiliated with the Cardiovascular Genetics Program, provides specialized care for individuals with suspected or diagnosed genetic conditions that may increase the risk of heart rhythm disturbances, known as arrhythmias. Genetic evaluation can provide an accurate diagnosis and inform prognostic, treatment, and reproductive implications for patients and their families. 

Conditions We Treat 

We specialize in genetic evaluation for numerous conditions, including those listed below. It is important to note that patients may experience these conditions very differently. You should speak with your cardiologist at Mass General about your particular condition to learn about a personalized treatment approach. 

• Long QT syndrome (LQTS): A condition in which the QT interval (the time it takes the ventricles to contract and relax) is longer than normal. A prolonged QT interval can be caused by certain medications or triggered by exercise/swimming, emotional stress, loud noises, or sleep. The prolonged QT interval can be a risk for dangerous rapid heart beats called ventricular arrhythmias. A genetic cause can be identified about 4/5 of the time, and a personalized approach to treatment can be developed. 
• Brugada syndrome (BrS): A condition characterized by specific electrocardiographic (ECG) abnormalities that can result in ventricular arrhythmias or even sudden cardiac death. This may be triggered by fever, dehydration, sleep, or particular medications. 
• Catecholaminergic polymorphic ventricular tachycardia (CPVT): A condition in which there is a problem with the heart rhythm that is often triggered by physical activity or emotional stress. It can cause light-headedness, dizziness, and fainting (also known as syncope) and usually starts in childhood. A genetic cause can be identified about 1/3 of the time. 
• Arrhythmogenic cardiomyopathy (ACM) including right ventricular cardiomyopathy (ARVC) and biventricular or left-dominant ACM: A condition in which the heart muscle of one or both ventricles may be replaced by fatty tissue and scar over time. This can cause arrhythmias. A genetic cause for someone with a clinical diagnosis of ARVC can be identified about 1/2 the time. Recent research has found that arrhythmogenic cardiomyopathies can affect both the right and left ventricles, with some genes having predilections for one ventricle or the other. 
• Sudden cardiac arrest/death (SCA/D): An emergency in which the electrical system of the heart malfunctions and causes the heart to suddenly stop beating. If the heart isn’t beating, it can’t pump important oxygenated blood to the other organs in the body (such as the lungs or brain). CPR can help keep oxygen in the lungs and brain until a defibrillator can attempt to return the heart to a normal rhythm. Any of the genetic conditions listed above can lead to sudden cardiac arrest, although there may be other genetic or environmental causes as well. 

Symptoms of arrhythmias may include dizziness, palpitations, gasping or labored breathing, light-headedness, or fainting (syncope), although some people may be completely asymptomatic. Arrhythmias can also cause sudden death. Patients with these conditions may be instructed to avoid competitive sports and certain medications to reduce their risk. Patients may also be prescribed medicines or recommended to get an implantable cardioverter defibrillator and/or pacemaker to help prevent abnormal heartbeats that can lead to sudden death.  

Experienced Physicians and Genetics Expertise 

The Mass General Arrhythmia Genetics Clinic is structured to provide patients with comprehensive and informative care. The clinic is directed by Saumya Das, MD, PhD and Steven Lubitz, MD, MPH who also conduct leading-edge scientific cardiovascular research at Mass General aimed at improving the treatment of patients with genetic arrhythmia syndromes. Our clinicians are faculty of Harvard Medical School and are committed to providing expert care and establishing new best practices for the treatment and prevention of arrhythmias.  

Our comprehensive care includes: 

• Genetic testing and counseling 
• Risk stratification and advanced cardiovascular lab testing 
• Medical treatments 
• Noninvasive cardiovascular imaging 

The Familial Aortic Disease Clinic, located within the Mass General Thoracic Aortic Center and affiliated with the Cardiovascular Genetics Program, provides specialized care for individuals with suspected or diagnosed inherited conditions causing aortic disease. 

To diagnose familial aortic disease, our team uses physical examination, cardiovascular imaging and molecular genetic testing. Proper treatment requires accurate genetic evaluation as medical and surgical decision-making is increasingly driven by genetic diagnosis. 

Conditions We Treat 

We specialize in treating numerous conditions, including those listed below. It is important to note that patients may experience these conditions very differently. You should speak with your cardiologist at Mass General about your particular condition to learn about a personalized treatment approach. 

• Thoracic aortic aneurysm:  A cardiovascular condition caused by weakening of the wall of the aorta, which can lead to an abnormal enlargement (aneurysm). 
• Marfan syndrome: A genetic condition that affects the body’s connective tissue and causes a strong predisposition to aortic root aneurysm and other health conditions, such as lens dislocation (ectopia lentis), pectus defects, scoliosis, and lung collapse. 
• Loeys-Dietz syndrome: A genetic condition that affects the body’s connective tissue and causes a strong predisposition to aortic aneurysm, arterial tortuosity and other health conditions, such as lung collapse, scoliosis, and bifid uvula/cleft palate. 
• Vascular Ehlers-Danlos syndrome (type 4): A genetic condition that affects the body’s connective tissue and causes a strong predisposition to arterial fragility and dissection and other health conditions, such as organ rupture, lung collapse, and easy bruising 
• Familial aortic aneurysm: A genetic predisposition to aortic enlargement that can be passed down in families. 
• Bicuspid aortic valve with ascending aortic aneurysm (BAV/AscAA): A predisposition to develop aortic enlargement as a result of a common congenital abnormality of the aortic valve. Approximately 1% of the U.S. population has BAV. 
• Spontaneous coronary artery dissection (SCAD): A spontaneous tear of one or more blood vessels of the heart. 

Thoracic aortic aneurysm is a common cardiovascular condition caused by weakening of the wall of the aorta (the largest artery in the body) which is responsible for carrying oxygen-rich blood from the heart to the rest of the body. This weakening can lead to an abnormal enlargement (aortic dilation), which produces a risk of tear or “dissection”. Aortic dissection is life threatening since it can affect blood flow to vital organs, such as the heart, brain, limbs or kidneys.  

Abdominal aortic aneurysm, the most common aortic disease in humans, is often associated with risk factors similar to those associated with heart attack, such as hypertension, atherosclerosis and diabetes. In contrast, thoracic aortic aneurysm is more commonly related to dysfunction of a single gene, which can sometimes be associated with an underlying syndrome that can be inherited in families. 

Experienced Physicians and Genetics Expertise 

The Mass General Familial Aortic Disease Clinic is structured to provide patients with comprehensive and informative care. Our experts are skilled in non-invasive evaluation of genetically triggered thoracic aortic disease. The clinic is directed by Eric Isselbacher, MD and Mark E. Lindsay, MD, PhD, who also conducts leading-edge scientific cardiovascular research at Mass General. Our clinicians are faculty of Harvard Medical School and are committed to providing expert care and establishing new best practices for the treatment and prevention of aortic dissection. 

Our comprehensive care includes: 

• Genetic testing and counseling 
• Risk stratification and advanced cardiovascular lab testing 
• Medical treatments 
• Noninvasive cardiovascular imaging 
• Cardiac surgical consultation 

Under the Massachusetts General Hospital Cardiovascular Genetics Program, the Atherosclerosis Genetics Clinic provides specialized care for individuals and families with suspected or established inherited conditions causing or predisposing them to premature heart attacks. Genetic evaluation can provide an accurate diagnosis and inform prognostic, treatment, and reproductive implications for patients and their families. 

Conditions We Treat 

Among the conditions we specialize in treating are: 

• Personal or family history of early-onset heart attack (men under 55 years old, women under 65 years old) 
• Intolerance of statin treatment or resistance to statins 
• Familial hypercholesterolemia (FH): A common genetic condition characterized by an inherited predisposition to elevated LDL cholesterol levels and a high risk for coronary artery disease. 
• Familial hypertriglyceridemia: A relatively common condition associated with a personal and family history of elevated triglycerides. 
• Familial chylomicronemia syndrome: A very rare genetic condition associated with severely elevated triglycerides. 
• Familial dysbetalipoproteinemia: A genetic condition that causes a predisposition to high cholesterol and triglyceride levels in the blood. 
• Elevated lipoprotein(a): Elevations of this lipoprotein fraction are often due to genetic predispositions. 
• Hypoalphalipoproteinemia: Low HDL cholesterol which may be due to genetic causes, other medical conditions or diet. 
• APOC2 deficiency: A very rare genetic condition associated with severely elevated triglycerides. 
• Sitosterolemia: A rare genetic condition that causes fatty substances to build up in the blood and tissues. 
• Pseudoxanthoma elasticum: A genetic condition characterized by accumulation of mineral deposits in the body’s connective tissue. 

Comprehensive Heart Attack Care 

Atherosclerotic cardiovascular disease is the leading cause of death worldwide and is the result of both genetic and environmental factors. Individuals or those with first-degree relatives who experienced premature heart attacks (men younger than 55 or women younger than 65) are often suspected to have strong genetic factors contributing to heart attack risk. 

Abnormal cardiovascular risk factors, such as diabetes mellitus, high blood pressure or high cholesterol, may or may not be present in such individuals. Additionally, individuals with abnormal cardiovascular risk factors, such as high cholesterol, that do not respond to traditional therapies, may be candidates for advanced testing and therapies, including PCSK9 inhibitors (a new class of drugs shown to dramatically lower LDL cholesterol levels). 

Our specialists provide multidisciplinary care that includes comprehensive cardiovascular examination and counseling to diagnose and manage both predisposing genetic and environmental/lifestyle factors. Our team comprises nurses, genetic counselors, nutritionists and medical assistants specialized in managing individuals at particularly high risk for sustaining a first or recurrent heart attack. 

Experienced Physicians and Genetics Expertise 

The Atherosclerosis Genetics Clinic at the Mass General Hospital Corrigan Minehan Heart Center is structured to provide patients with comprehensive and informative care. The Atherosclerosis Genetics Clinic is directed by Pradeep Natarajan, MD and Krishna Aragam, MD, MS, who conduct leading-edge scientific cardiovascular genetics research. Our clinicians are faculty of the Harvard Medical School, and are committed both to providing expert care and establishing new best practices for the treatment and prevention of heart attacks. 

Our comprehensive care includes: 

• Genetic testing and counseling 
• Risk stratification and advanced cardiovascular lab testing 
• Medical treatments, including advanced lipid therapies 
• Noninvasive cardiovascular imaging 
• Invasive cardiovascular testing and therapy