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

SUBMITTER: Arslan-Kirchner M 

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

REPOSITORIES: biostudies-literature