The Marfan syndrome program at Cohen Children's provides patients with a coordinated approach to their care, utilizing the expertise of physicians and other health professionals from different specialties. The goal of the center is to provide early diagnosis, appropriate medical/surgical consultation and timely therapy.
The initial consultation and subsequent management of patients with Marfan syndrome and Marfan-related syndromes are coordinated through a multidisciplinary team from cardiology, cardiac surgery, genetics, ophthalmology and orthopaedics.
Our physicians attend an annual professional meeting sponsored by the Marfan Foundation, where they are updated on recent advances in these diseases. They also provide lectures to pediatric residents and cardiology fellows on Marfan and Marfan-related syndromes throughout the year.
What to expect
The initial visit includes a comprehensive evaluation by a pediatric cardiologist, a medical geneticist, and a genetic counselor. Following a detailed interview reviewing the family and medical history, a thorough physical examination (including skeletal measurements) is performed.
The cardiac evaluation includes a physical examination, an EKG and an echocardiogram. If necessary, the patients are referred for an ophthalmological evaluation by a pediatric ophthalmologist, and a thorough orthopaedic evaluation. The initial consultation is followed by a review of the medical findings with the patient and family. Recommendations for future management are discussed. The patients are often referred for molecular genetic testing when indicated.
Patients are then followed at the Marfan syndrome program annually, semiannually or more frequently, depending on the patient's individual needs and changes in health status. They are closely monitored for the development of potential complications associated with Marfan syndrome and Marfan-related syndromes.