Cardiovascular Genetics
Marfan and Aortic Disease Clinic

Diagnosis and Management of Marfan and Aortic Diseases

The Marfan and Aortic Disease Clinic is part of the Heart Institute at Cincinnati Children’s. Our program specializes in diagnosing and managing specific cardiovascular diseases. These diseases include genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.

At the Marfan and Aortic Disease Clinic, we see both children and adults. We offer thorough clinical assessments, including echocardiography and other specialized heart screenings. Our specialists also discuss and evaluate medical and family histories to help clearly diagnose your or your child’s condition. We discuss the possible underlying genetic basis for cardiovascular disease and the best approach for diagnosis and management in your family.

Our multidisciplinary team includes cardiologists, geneticists, nurse practitioners and genetic counselors. If we recommend genetic testing, our cardiac-focused genetic counselors can walk you through the process. Our highly specialized program allows us to screen, diagnose and manage patients and relatives who might be at risk for genetic cardiovascular disorders. That means we can make recommendations to help minimize and prevent future cardiovascular health problems for your family members. 

Why Choose Cincinnati Children’s

Easy Access

Our goal is to make expert services for certain genetic conditions and arterial disorders available to anyone who could benefit, even those outside Greater Cincinnati. For individuals referred for evaluation of a possible diagnosis of Marfan syndrome, a genetic counseling appointment is typically scheduled virtually via telehealth through a computer, smartphone or tablet. Genetic testing may be recommended at this visit and can happen remotely, without the need to travel to a Cincinnati Children’s location. Individuals will then have an in-person visit with a genetics doctor and possibly a heart doctor to complete the evaluation and review genetic testing results and other recommendations.

Convenience and Reassurance

We value your time and want to get you the exact care you or your child needs. That’s why, in our initial conversation with you, we make sure next steps are clear and timely, based on your situation. Early reassurance helps you know you’re in good hands.

Expert Collaboration

We regularly collaborate with your other healthcare teams—from primary care providers to cardiologists and beyond—whether they’re part of the Cincinnati Children’s staff or a different health system. Upon request, we’re happy to share consult notes, test results and any recommended changes to your care with both you and your healthcare team. We also work with genetic testing labs at Cincinnati Children’s and across the country to ensure you have access to the most current and appropriate tests.

A Focus on Family

Since Marfan syndrome and other genetic heart conditions can run in families, we work closely with you to provide family-centered care, including written information and recommendations to share with relatives when needed. We can even see entire families at our clinic—both children and adults.

Conditions We Treat

Genetic conditions with cardiac features

Examples include:

Arterial disorders

Examples include:

Treatments and Services

Our team develops personalized plans for screening and treatment of various genetic heart conditions. Our services include:

Evaluation of Medical History

A genetic counseling visit typically will include collection and evaluation of personal and family medical histories and a review of medical records. This process helps determine your risk or guide us in developing your treatment plan.

Consultations with a Geneticist and Cardiologist

For some conditions and circumstances, you may need a visit with another healthcare provider, such as a geneticist or cardiologist. We have both on staff at the Marfan and Aortic Disease Clinic. They may recommend additional testing or treatment or refer you to other specialists, depending on your diagnosis.

Genetic Testing

Genetic testing looks for changes in your DNA that can guide us in offering you the best medical care. It can help diagnose your specific heart condition or clarify if you’re at risk for a condition that runs in your family. Our genetic counselors can determine if genetic testing is right for you, help facilitate the testing and interpret the results. We also may recommend genetic testing for a family member to provide you with more personalized care. Most genetic testing can be done with a cheek swab or saliva sample. Genetic testing kits can be sent through the mail, and you can facilitate sample collection at home.

What to Expect at the Marfan and Aortic Disease Clinic

Making an Appointment at the Marfan and Aortic Disease Clinic

We want it to be easy for you and your family to get the care you need. When you contact us to schedule an appointment or are referred to our clinic, you’ll work with a coordinator. We’ll gather intake information about you, including your age and current or suspected diagnosis. These details tell us how soon you or your child needs a visit and which of our team members need to be involved in your visit.

Before Your Visit to the Marfan and Aortic Disease Clinic

Before your visit, if you were referred by another provider, we’ll collect any notes and prior test results. Examples include both genetic testing results and cardiology tests, such as an echocardiogram (echo) and magnetic resonance imaging (MRI). We’ll review the test results to decide if you need other testing at the clinic.

If you’re a new patient, you may meet virtually with a genetic counselor via telehealth before your visit with a cardiologist or geneticist. The genetic counselor will gather your medical and family history and discuss your genetic testing options.

On the Day of Your Visit to the Marfan and Aortic Disease Clinic

Most clinic visits happen in person but can be telehealth visits in some cases. At your visit, you’ll meet with the appropriate providers for your needs. You’ll see a geneticist, a cardiologist, or both, and possibly a genetic counselor. We’ll review any existing test results and discuss follow-up recommendations. We may refer you to another clinic or specialist if appropriate.

After Your Visit to the Marfan and Aortic Disease Clinic

You’ll receive an “After Visit Summary” at the end of your visit. It will include important details about upcoming appointments, test results, and what follow-up testing you need. Your primary care doctor or cardiologist also will receive this summary.

Sign up for MyChart for easy access to your After Visit Summary. You also can use MyChart to communicate with your providers about results and any questions.


Clinical genetic testing is widely available and, for most patients, is the first step in identifying an underlying genetic cause for heart disease. Sometimes, though, clinical genetic testing can’t determine the genetic cause. When this happens, we often can help identify opportunities for other research-based genetic testing or research studies specific to personal and family history and genetic testing results.

We have a variety of ongoing internal research studies at Cincinnati Children’s. We’re also in close contact with external researchers, including the Marfan Foundation. This collaboration means a better chance of finding research opportunities that best fit you or your child’s condition.