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In this cohort a high percentage of patients fulfilling the revised Ghent criteria for MFS underwent genetic testing, often leading to or confirming the diagnosis of MFS. Other CTDs could be discriminated best by genetic testing. With respect to the diagnosis of MFS and related CTDs, the usefulness of the systemic score is limited, showing the importance of genetic testing, which enabled definitive diagnosis in 95% of tested patients. Patient education on medical treatment still has to be improved. (Trial registration no: KEK-ZH-Nr. 2013-0241).

schweizerische medizinische wochenschrift

Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing