The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders.
BACKGROUND
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.


CONCLUSIONS
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.
Arslan-Kirchner
Mine
M
Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, Hannover, Germany.
von Kodolitsch
Yskert
Y
Schmidtke
Jörg
J