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Marfan Syndrome Center

The Marfan Syndrome Center works as a specialized team on the diagnosis, treatment and genetic counseling of patients with Marfan syndrome. It is also committed to education and research activities.

Medical services / Diagnosis and treatment policy

Marfan syndrome is caused by structural weakness of connective tissue, resulting in symptoms associated with functional failure in the cardiovascular, skeletal, ocular, and pulmonary systems. Although several causative genes have been identified, the disease is believed arise from a complex interaction of unknown genes and environmental factors, and is often difficult to diagnose. Because it is a rare disease with a genetic predisposition, and the symptoms and examination items cover a wide range of systems, it is necessary for multiple specialized departments to work together to differentiate, diagnose, and treat the disease and its related disorders. The University of Tokyo Hospital established the Marfan Clinic in April 2005 and has been providing comprehensive medical care for the early diagnosis and treatment of Marfan syndrome and related disorders, in close cooperation with related internal departments and external medical institutions. Renamed as Marfan Syndrome Center in June 2021, the center is working in collaboration with numerous departments to provide appropriate medical care, establish new medical guidelines, and implement genetic medicine. Collaborating departments include Cardiovascular Medicine, Pediatrics, Cardiovascular Surgery, Orthopaedic Surgery and Spinal Surgery, Ophthalmology, Obstetrics and Gynecology, and the Department of Clinical Genomics. In the future, the center will continue to promote activities leveraging its comprehensive medical services for this disease, as well as engage in medical treatment, education, and research in this disease area.

Target diseases

Marfan syndrome and related disorders (Loeys-Dietz syndrome, vascular Ehlers- Danlos syndrome, familial thoracic aortic aneurysms and dissections, etc.).

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