Cardiovascular Genetics

Cardiovascular Genetics Program

The Cardiovascular Genetics Program at Massachusetts General Hospital specializes in clinical evaluations, genetic screening and personalized treatment for individuals with inherited cardiovascular diseases.
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Overview

The Cardiovascular Genetics Program at Massachusetts General Hospital provides comprehensive cardiovascular evaluations, genetic counseling, genetic testing and individualized treatment plans for patients at risk for inherited cardiovascular conditions. We take a multidisciplinary approach to care, leveraging the diverse cardiac expertise of the Corrigan Minehan Heart Center, and breadth of knowledge and resources across Mass General.

Our program includes several sub-specialty clinics with experts dedicated to specific cardiovascular disease areas:

Cardiovascular Genetics Services

Although lifestyle factors put a person at risk for heart disease, genetic predispositions may also play a large role in a person’s risk of developing a cardiac condition. Clinical and genetic screenings of patients and their family members, interpretation of test results and personalized treatment strategies can help patients live longer, healthier lives. It is important for patients to speak with their physician about the availability of genetic counseling and testing, especially if they have a family history of cardiac conditions.

Our program provides the following services:

    • Outpatient and inpatient consultation
    • Comprehensive risk assessment of personal and family history
    • Genetic counseling and genetic testing
    • Individualized screening and treatment options
    • Patient/family education and support
    • Web-based family history instruments and e-mail consultation
    • Seamless care with referring cardiologists and primary care physicians

Testing for Genetic Heart Conditions

We recommend family screening and genetic counseling for the following conditions:

  • Long QT syndrome, Brugada syndrome, arrhythmogenic right ventricular cardiomyopathy (ARVC), catecholaminergic polymorphic ventricular tachycardia (CPVT), and other sudden cardiac arrest syndromes
  • Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and other connective tissue disorders
  • Familial hypercholesterolemia and other inherited dyslipidemias
  • Hypertrophic cardiomyopathy
  • Dilated cardiomyopathy

Our specialists also offer clinical or genetic screening for many forms of the following conditions:

  • Aortic aneurysms and dissections
  • Bicuspid aortic valve
  • Premature conduction system disease
  • Premature coronary artery disease and heart attack
  • Premature vascular disease
  • Congenital heart disease
  • Pulmonary hypertension

Familial Aortic Disease

The Familial Aortic Disease Clinic, located within the Massachusetts General Hospital 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 aneursym 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

Arrhythmia Genetics

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.

Specializing in Heart Rhythm Abnormalities

Many arrhythmias caused by genetic factors are due to altered electrical activity or structural changes in the heart. Our multidisciplinary team provides care that includes a comprehensive cardiovascular evaluation and counseling to diagnose conditions that increase the risk of cardiac arrhythmias. Our team includes cardiologists, nurses and genetic counselors, who specialize in cardiac arrhythmias and have expertise in the use and interpretation of genetic information. We utilize a number of diagnostic, risk stratification and therapeutic tools to help direct treatment, and we work closely with colleagues trained in cardiovascular imaging and related subspecialties.

Conditions We Treat

Among the conditions we specialize in treating are:

  • Brugada syndrome: A condition that can cause a characteristic abnormal electrocardiogram (ECG) pattern and lead to irregular heartbeats in the ventricles (ventricular arrhythmias)
  • Long QT syndrome: A condition characterized by an abnormal lengthening of the QT interval on ECG, which can lead to ventricular arrhythmias. The QT interval measures the time it takes for the ventricles to recover from electrical excitation
  • Short QT syndrome: A condition characterized by an abnormal shortening of the QT interval on ECG, which can lead to ventricular arrhythmias
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC/ARVD): A condition characterized by progressive development of scar tissue in the heart muscle, which is can lead to arrhythmias
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT): A condition characterized by an abnormal heartbeat in response to physical activity or emotional stress, typically caused by excess calcium release in the heart muscle cells
  • Early onset atrial fibrillation (AF): A common condition characterized by an abnormal rhythm in the atria; early-onset typically refers to AF diagnosed before age 40
  • Early repolarization syndrome: Early repolarization is characterized by a specific pattern on the ECG that can indicate a predisposition to arrthythmia
  • Idiopathic ventricular tachycardia or ventricular fibrillation: Idiopathic VT or VF refers to abnormal heartbeat in the ventricles with no identified cause

Experienced Physicians and Genetics Expertise

The Arrhythmia Genetics Clinic at the Massachusetts General Hospital Corrigan Minehan Heart Center provides patients with comprehensive care. The Arrhythmia Genetics Clinic is led by Steven Lubitz, MD, MPHPatrick Ellinor, MD, PhD, and David Milan, MD. Our physicians provide expert care, and through ongoing research, continue to establish new best practices for the treatment of genetic arrhythmias. Our experts are skilled both in noninvasive and invasive therapies that may be necessary for the management of patients with inherited arrhythmia conditions.

Our comprehensive care includes:

    • Genetic testing and counseling
    • Risk stratification and diagnostics
    • Invasive electrophysiology diagnostic testing
    • Medical treatments
    • Pacemakers and defibrillators

Atherosclerosis Genetics

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, and Sekar Kathiresan, MD, who also both 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

Genetic Counseling

The Massachusetts General Hospital Cardiovascular Genetics Program offers clinical genetic counseling services for patients at risk for inherited cardiovascular conditions. Our certified genetic counselor meets with patients and their family members to:

  • Provide a comprehensive evaluation of medical and family history
  • Explain the benefits and limitations of genetic testing and recommend the most appropriate testing strategy
  • Provide helpful educational and support resources

What is Genetic Counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
  • Education about inheritance, testing, management, prevention, resources and research
  • Counseling to promote informed choices and adaptation to the risk or condition

For more information about the practice of genetic counseling, visit the National Society of Genetic Counselors

What to Expect

We will typically begin the appointment by reviewing your medical and family history in detail. Please obtain as much information as possible about your family’s health history ahead of time and bring it with you to your appointment. Our genetic counselor will use this information to provide you with information about the natural history of genetic cardiovascular conditions, inheritance patterns and potential risks for other family members. When indicated, the genetic counselor will guide you through options for genetic testing and explain how the possible results may impact your treatment or screening recommendations.

Genetic Testing

In some cases, genetic testing for inherited cardiac conditions can help clarify a diagnosis, direct treatment or screening guidelines, or provide useful information about the likelihood that your family members may be affected by the same condition. Genetic testing typically involves obtaining a blood sample, which is sent to a laboratory for DNA analysis.

Since the results of genetic testing can often have a significant impact on other family members, our genetic counselor is available to explain the results in detail and discuss how you and your family members may be affected by this information.

Our Team

  • Mark Lindsay, MD, PhD

    Mark Lindsay, MD, PhD, attended the University of Virginia School of Medicine where he completed the Medical Scientist Training Program, obtaining medical and doctorate degrees. He completed residency training in pediatrics as well as fellowship training in pediatric and congenital cardiology at the Johns Hopkins Hospital in Baltimore, Maryland. In the Mass General Thoracic Aortic Center, he performs genetic evaluations, and provides ongoing care for children and adult patients with Marfan syndrome and other familial aneurysm conditions. Dr. Lindsay is a member of the Cardiovascular Research Center at Mass General, investigating the genetic etiology and pathophysiology of human aortic disease focusing on gene discovery, the developmental underpinnings of aortic aneurysm and mechanisms of aortic dissection.

  • Steven Lubitz, MD, MPH

    Steven Lubitz, MD, MPH, graduated from University of Michigan Medical School. He trained in internal medicine and cardiovascular disease at Mount Sinai Hospital in New York, where he also served as a chief medical resident. He completed training in clinical electrophysiology at Mass General and earned a Master of Public Health degree from the Harvard University School of Public Health. His clinical efforts focus on caring for patients with heritable arrhythmias including early-onset atrial fibrillation, Brugada syndrome, long QT syndrome, short QT syndrome, unexplained ventricular tachycardia and fibrillation, arrhythmogenic right ventricular cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia. Dr. Lubitz is an active member of the Cardiovascular Research Center at Mass General, where he investigates the genetic mechanisms of and optimal treatments for heritable arrhythmias.

  • Patrick Ellinor, MD, PhD

    Patrick Ellinor, MD, PhD, is a cardiac electrophysiologist at Mass General. His clinical focus is on cardiac arrhythmias, and in particular, atrial fibrillation and heritable arrhythmias including long QT syndrome, Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. Dr. Ellinor attended medical school and graduate school at Stanford University, followed by a medical internship and residency at Brigham and Women's Hospital. He then came to Mass General for his fellowship training in cardiology and cardiac electrophysiology. He joined the faculty in the Cardiac Arrhythmia Service in 2003. Dr. Ellinor is currently an associate physician at Mass General and an associate professor at Harvard Medical School.

  • Eric Michael Isselbacher, MD

    Eric Michael Isselbacher, MD is the director of the Healthcare Transformation Lab and co-director of the Thoracic Aortic Center at Mass General. He is also an associate professor of medicine at Harvard Medical School.

  • David Milan, MD

    David Milan, MD, completed his undergraduate training at Stanford University, majoring in chemistry. He then attended Harvard Medical School in the Health Science and Technology Division. He completed his internship and residency at Brigham and Women's Hospital in Boston, and undertook his training in general cardiology and cardiac electrophysiology at Mass General. In addition to his busy clinical practice, he directs a research laboratory at Mass General, which studies the molecular basis of cardiac arrhythmias and seeks to find novel treatments for these disorders.

  • Sekar Kathiresan, MD

    Sekar Kathiresan, MD, received his Bachelor of Arts in history summa cum laude from the University of Pennsylvania. He received his medical degree from Harvard Medical School, and completed his clinical training in internal medicine and cardiology at Mass General. He served as chief resident in Internal Medicine at Mass General from 2002-2003. Subsequently, he pursued research training in cardiovascular genetic epidemiology through a combined experience at the Framingham Heart Study and the Broad Institute of Harvard/MIT, mentored jointly by Christopher J. O'Donnell, MD, and Joel N. Hirschhorn, MD. In addition to his research efforts, Dr. Kathiresan is the director of Preventive Cardiology at Mass General, and has a clinic focused on primary prevention of myocardial infarction in individuals with a family history of heart attack.

  • Pradeep Natarajan, MD, MMSc

    Pradeep Natarajan, MD, MMSc received his Bachelor of Arts in molecular biology with honors from the University of California, Berkeley. He received his medical degree from the University of California, San Francisco and a Master of Medical Sciences in biomedical informatics from Harvard Medical School. Dr. Natarajan completed his internship and residency in internal medicine at Brigham and Women's Hospital. He completed his clinical and research fellowship in cardiovascular medicine at Mass General. In 2012, he was awarded the national American Heart Association's Laennec Young Clinician Award.

    Dr. Natarajan researches the genetic drivers of human atherosclerosis using genetic epidemiology, large-scale sequencing studies, and genotype-driven human investigation under the mentorship of Drs. Sekar Kathiresan and Christopher O'Donnell. In addition to his research efforts, Dr. Natarajan is a clinical cardiologist focusing on heart attack prevention, cardiovascular risk reduction, premature heart attack, lipid disorders and cardiovascular genetics at the Mass General Cardiovascular Disease Prevention Center.

  • Christopher Holmes Newton-Cheh, MD, MPH

    Christopher Holmes Newton-Cheh, MD, MPH, is a cardiologist in the Heart Failure and Transplantation section of the Massachusetts General Hospital Cardiology Division and an assistant professor of medicine at Harvard Medical School. He sees patients with advanced heart failure.

    Dr. Newton-Cheh is a faculty member of the Center for Human Genetic Research and the Cardiovascular Research Center, where he co-directs the Human Cardiovascular Genetics Program. He is a complex trait geneticist and cardiovascular epidemiologist. The Newton-Cheh laboratory is focused on the study of hypertension, arrhythmias and heart failure. We are leveraging the growth of human genetics to identify DNA sequence variants that contribute to these common diseases, to translate these genetic findings to an improved understanding of human physiology through patient-oriented research and to define the role of genetic variants, alongside other clinical risk factors, in risk prediction at the population level.

  • Kelsey Newell, MS, CGC

    Kelsey Newell, MS, CGC, is a licensed and certified genetic counselor specializing in cardiovascular genetics. She received a Bachelor of Science in psychology from the College of William & Mary and her Master of Science in genetic counseling from Boston University School of Medicine. Before joining the Mass General Cardiovascular Genetics Program, she worked with a cardiology research team at Boston Children’s Hospital, focusing on the genetic contributions to congenital heart disease. Her other research interests include the implications of integrating exome sequencing into clinical practice.

  • Linda Pitler, RN, MS

    Linda Pitler, RN, MS, graduated from D’Youville College with her Bachelor of Science in Nursing and earned her Master of Science from University of Massachusetts, Boston. She has been involved in clinical research for more than 20 years, working in data management, drug safety and as a clinical research nurse. Linda has worked in varied disciplines, including cardiology, diabetes, HIV/AIDS and newborn screening disorders. She has been the clinical research nurse for the Mass General Thoracic Aortic Center since 2008.

  • Marisa Shea, RN

    Marisa Shea, RN, has been with Mass General for more than 30 years, initially working in inpatient cardiology and then in arrhythmia research. Marisa assists Drs. Ellinor, Lubitz and Milan in their research studies.

  • Erina Kii

    Erina Kii is a clinical research coordinator for the Kathiresan Lab and helps in recruiting subjects for the lab’s genetic studies on extreme lipid levels. She completed her Bachelor of Arts in biology at Vassar College and has a strong interest in translational genetic research

  • Melanie Kwan

    Melanie is a clinical research coordinator in the Cardiovascular Genetics Program at Mass General and recruits subjects for genetic studies of inherited arrhythmias. She received a Bachelor of Science in sociology with honors from the United States Military Academy. Before joining the team, she spent more than six years on active service with the U.S. Army.

Preparing for your Visit

What to Expect

If this is your initial visit with our team, you should expect the visit to last approximately one to two hours. The evaluation typically includes a detailed medical history, family history, and physical examination as well as education and counseling.

At the conclusion of the visit, we may recommend additional tests to help make a diagnosis or clarify your cardiovascular risk. This may include genetic testing, additional cardiac imaging or other tests. We also consider the familial implications of genetic cardiovascular conditions. As a result, we may also provide you with screening recommendations for your family members.

What to Bring

Please bring any relevant medical records if you have been previously evaluated at an outside institution. In addition, we request that you obtain as much information ahead of time about your family’s health history, particularly if there are any individuals who have been diagnosed with a heart condition.

Resources

Massachusetts General Hospital is dedicated to ensuring that patients and their family members have accurate and comprehensive information so they can make informed decisions about their health care. We are also devoted to providing educational and support resources to help families understand and cope with a diagnosis.

Please explore the links below for more information about inherited cardiovascular conditions.

Education

Support

 

Research

The Cardiovascular Genetics Program at Massachusetts General Hospital is committed to advancing our understanding of the genetic causes of cardiovascular disease and predisposing risk factors. Our clinicians engage in state-of-the art research to determine the underlying mechanisms of these conditions and identify ways to prevent adverse outcomes. During your visit with us, please inquire about our ongoing research protocols to learn more.

Please explore the links below for more information about the research interests of our faculty:

Cardiovascular Research Center
Lindsay Lab
Kathiresan Lab
Ellinor Lab

Conditions

The care team at the Corrigan Minehan Heart Center encourages all patients and family members to learn more about conditions and diseases that affect the heart and cardiovascular system. The links below provide more information about heart conditions and diseases that might be treated within the Cardiovascular Genetics Program.

  • Arrhythmias

    Arrhythmias are heart rhythm disorders that may originate in the atria (the receiving chambers of the heart) or the ventricles (the pumping chambers of the heart).

  • Atherosclerosis

    Atherosclerosis is a thickening or hardening of the arteries caused by a build-up of plaque in the inner lining of an artery.

  • Thoracic Aortic Aneurysm

    A thoracic aortic aneurysm, also called TAA, is a bulging, weakened area in the wall of the thoracic aorta (the largest artery in the body), resulting in an abnormal widening or ballooning.

Contact

Contact Us

Cardiovascular Genetics Program

Yawkey Center for Outpatient Care

55 Fruit Street Boston, MA 02144
  • Near Public Transit
  • Accessible
Request an Appointment Request a Second Opinion

Call to request an appointment or referral: 866-644-8910

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