Diagnosis and Long-Term Management

Marfan Syndrome Diagnosis and Long-Term Management

Diagnosing and maintaining Marfan syndrome can include a combination of medical history, genetic testing and diagnostic tests to monitor the heart, eyes, joints and more. Our multidisciplinary team of cardiologists, ophthalmologists, orthopedic specialists and geneticists, will work together to confirm your diagnosis and develop a personalized management plan.

It's important to note that early diagnosis and treatment are crucial for individuals with Marfan syndrome to prevent complications and improve outcomes.

Diagnostic and Management Services:

Medical history: A detailed medical history is used to confirm any family history of Marfan syndrome or other connective tissue disorders, as well as identify any existing conditions associated with MFS.

Echocardiogram: An ultrasound examination of the heart to detect any abnormalities in the heart valves, chambers or blood vessels.

Imaging studies: X-rays, computed tomography (CT) scans, or magnetic resonance imaging (MRI) scans may be used to evaluate the spine, chest and abdominal organs.

Eye exams: Comprehensive eye exams are used to assess any eye abnormalities, such as dislocated lenses or retinal detachment.

Genetic testing: Genetic testing can help confirm if there is a family history of Marfan syndrome, and if so, it can also help identify which family member(s) have MFS, and what the likelihood is of any children also inheriting the condition.