Clinic Visit
Each new patient in the Marfan / Ehlers-Danlos Syndrome Clinic at Cincinnati Children's Hospital Medical Center is evaluated by a clinical geneticist, genetic counselor and cardiologist at the time of their clinic appointment. A comprehensive family history and past medical history are obtained.
Each patient will also have an echocardiogram either before, or the day of, the clinic visit. The evaluation by Cardiology will include review of the echocardiogram, history, as well as a clinical examination. The genetics evaluation includes a comprehensive medical history as well as targeted physical examination.
The diagnosis of Marfan syndrome is based upon personal medical history, heart-related findings and a physical examination. Confirmation of a clinical diagnosis may require a blood test for genetic testing. Ehlers-Danlos syndromes (EDS) are a group of disorders primarily involving joint laxity (double-jointed). Joint laxity is diagnosed by a clinical examination using the Beighton criteria. The Beighton examination involves determining if certain joints (thumbs, fingers, elbows, knees and spine) bend farther than expected and is part of the physical examination. Blood tests are rarely useful for diagnosis of EDS. Once the correct diagnosis is established, a management plan is implemented and genetic counseling is provided to the patient and family.
Due to the involvement of echosonography, as well as evaluations by both genetics and cardiology, please allow up to 4 hours for a clinic visit.
Individuals may choose to wear gym shorts and / or a sports bra during the physical exam.
If a recent (within one year) echocardiogram has been performed, the patient may bring a copy of the echo recording for cardiology review. A baseline echocardiogram is required for all patients referred for Marfan syndrome and Ehlers-Danlos syndrome because of the risk of cardiac involvement.
Location / Directions
The main campus of Cincinnati Children's is located at 3333 Burnet Avenue, Cincinnati, OH 45219. View map and driving directions.
The Marfan / Ehlers-Danlos Syndrome Clinic is held in Cardiology on the fourth floor of Location C. Clinics are held on every Wednesday afternoon.
Contact the Marfan Syndrome / Ehlers-Danlos Syndrome Clinic
The Marfan Syndrome / Ehlers-Danlos Syndrome Clinic is open on Wednesdays and can be reached at 513-636-4351.
