Cardiovascular Genetics Program

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.

Comprehensive Care for Common to Complex Cardiovascular Conditions

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
• 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
• 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
• 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
• Spontaneous coronary artery dissection (SCAD): A spontaneous tear of one or more blood vessels of the heart

Treating Thoracic Aortic Aneurysm

Our experts are skilled in noninvasive evaluation of genetically triggered thoracic aortic disease.

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.

We work with patients to recommend options to diagnose and treat thoracic aortic disease. These options may include: genetic testing, medical management, noninvasive cardiovascular imaging, advanced cardiovascular biomarker testing or cardiac surgery.

Experienced Physicians and Genetics Expertise

The Mass General Familial Aortic Disease Clinic is structured to provide patients with comprehensive and informative care. 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

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.

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.

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.

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
• Elevated lipoprotein(a): Elevations of this lipoprotein fraction are often due to genetic predispositions
• APOC2 deficiency: A very rare genetic condition associated with severely 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
• 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
• Hypoalphalipoproteinemia: Low HDL cholesterol which may be due to genetic causes, other medical conditions or diet
• 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

Our experts at the Mass General Corrigan Minehan Heart Center are skilled both in noninvasive and invasive therapies that may be necessary for the management of patients at notably high risk for heart attack. Treatments may include genetic testing, medical management (including PCSK9 inhibitors), nutrition counseling, mobile fitness tracking, noninvasive cardiovascular imaging testing, advanced cardiovascular biomarker testing, coronary angiography, percutaneous coronary interventions, cardiac surgery or other options.

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, who conducts 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