Cardiovascular Genetics 

Why choose MUSC Health for cardiovascular genetic testing?

At MUSC Health, you have access to the Southeast’s experts in genetic heart disorders. Our team gives you:

• National leadership: MUSC Health’s team can identify the genetic cause of rare, inherited heart conditions that aren’t commonly seen in most medical practices. Our doctors work with others worldwide to pinpoint previously unknown variations in the genes that cause heart problems. Meet our team.
• Personalized consultation: Our board-certified genetic counselors advise you and your family on appropriate cardiovascular genetics testing and options. We make sure you understand your test results and what to expect in the future.
• Customized expertise: Our team’s knowledge means you can get specific advice about rare conditions that affect certain populations. For example, we test and offer options for TTR amyloidosis, an inherited condition that affects 3.5% of people with self-identified African heritage. Read more about cardiac amyloidosis. 
• Full spectrum of care, including transplant: Our team provides genetic evaluation for all forms of cardiomyopathy, aortic aneurysms, unexplained arterial dissections, familial hypercholesterolemia, and unexplained arrhythmias. We perform heart transplants for people with inherited TTR amyloidosis and advanced heart failure. We also perform heart transplants for people who have genetic cardiomyopathies (an enlarged and weakened heart because of an inherited condition). Read about our heart transplant program.
• Advancing innovation: MUSC Health’s extensive clinical trials program offers access to leading-edge treatments that aren’t available at all medical centers. Doctors are investigating and testing genetic therapies for TTR amyloidosis, as well as cardiomyopathies caused by alterations in the PKP2 and BAG3 genes. Learn more about our clinical trials. 

What are genetic heart disorders?

Inherited conditions are health problems that are passed down in your genes. Genes carry the DNA code that you get from your biological parents.
Many common inherited heart conditions — such as coronary artery disease and hypertension (high blood pressure) — run in families. These conditions have complex causes that aren’t routinely predictable with genetic testing.

Other heart problems have a strong genetic cause based on variants (changes) in specific genes. Cardiovascular genetic testing can identify these variants, which can lead to:

• Aortic aneurysm
• Valve disease, including familial mitral valve prolapse
• Cardiac amyloidosis
• Congenital heart defects
• Inherited cardiomyopathy, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC or ARVD)
• Syndromes such as Marfan, Loeys-Dietz and Ehlers-Danlos
• Other genetic conditions that involve the heart, such as osteogenesis imperfecta (brittle bone disease) and muscular dystrophies

Why have genetic testing for heart conditions?

Genetic testing is an essential part of medical care for inherited heart disease. Understanding a problem’s cause can direct your doctor to the right treatment. Knowing that a heart condition is inherited can also help your family make important decisions with the information you’ll gain. Cardiovascular genetic testing can:

• Confirm an inherited heart disease in an individual
• Find the cause for heart disease in a family
• Help predict which relatives are at risk to develop a genetic heart disorder
• Guide family planning options, including genetic diagnosis to reduce the likelihood of passing inherited heart disease to your children

Taking control of your genetic heart health.

We understand that genetic testing for inherited heart disorders can be intimidating. You might feel like you face a risk that is out of your control.

We’re here to help. We recommend first testing your family member who has a heart condition. If we find a genetic cause, we can do further genetic testing and counseling for relatives.

Because genetic heart disorders affect families, we partner with other departments at MUSC Health to care for your whole family, including pediatric cardiology. Today, testing is less expensive than ever. We let you know what to expect financially and help find the most cost-effective way to receive testing.

Remember, carrying a gene for heart disease does not mean you will develop that condition. But knowing your risk means you can take action. Lifestyle changes and a doctor’s monitoring can minimize your risks, and if you find out you do not carry a certain gene, you can move forward with your life.