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


ABSTRACT: INTRODUCTION: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.

SUBMITTER: Arslan-Kirchner M 

PROVIDER: S-EPMC2696906 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature

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

Arslan-Kirchner Mine M   von Kodolitsch Yskert Y   Schmidtke Jörg J  

Deutsches Arzteblatt international 20080704 27


<h4>Introduction</h4>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.<h4>Methods</h4>Selective review of the literature supplemented by own clinical experience.<h4>Results</h4>Marfan syndrome and Marfan-related syndromes are phenotypica  ...[more]

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