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lüll The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders Arslan-Kirchner M; von Kodolitsch Y; Schmidtke JDtsch Arztebl Int 2008[Jul]; 105 (27): 483-91INTRODUCTION: Marfan syndrome and Marfan-related syndromes are part of a broad and overlapping spectrum of diseases that were originally defined on clinical grounds alone. They have in common a dramatically increased risk of life-threatening dissecting aortic aneurysms, which must be prevented by elective aortic replacement. METHODS: Selective review of the literature supplemented by own clinical experience. RESULTS: Marfan syndrome and Marfan-related syndromes are phenotypically highly variable. The full-blown clinical picture is not always present, and particular symptoms can be missing altogether. Accordingly, it is often very difficult to diagnose a specific syndrome in the individual patient. In many cases, only a combination of genetic tests and clinical assessment can settle the differential diagnosis, thus enabling better prognostication and better planning of preventive measures. DISCUSSION: The diagnosis and treatment of individual patients with Marfan syndrome and Marfan-related syndromes requires an interdisciplinary approach. This can only be achieved through a coordination of medical care with centralized record-keeping of all diagnostic findings.ä |