Das Marfan-Syndrom verursacht häufig Probleme mit Knochen und Gelenken. In der Tat sind dies oft die ersten Merkmale, die einen Verdacht auf das Marfan-Syndrom erwecken und eine Person zu einem Arztbesuch bewegen, um eine Diagnose stellen zu lassen. Zu diesen Skelettmerkmalen kommt es, wenn die Knochen übermäßig lang werden oder die Bänder (das Bindegewebe, das die Knochen an den Gelenken verbindet) dehnbar werden – wie ausgeleierte Gummibänder.
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Overview of Cardiac Management in Marfan Syndrome
Overview of Cardiac Management in Marfan Syndrome Aortic dissection is the major cause of premature morbidity and mortality in Marfan syndrome. Aortic root aneurysm or dissection and ectopia lentis are cardinal features of Marfan syndrome based on the 2010 Gent nosology. For the full diagnostic criteria, please visit MarfanDX.org. Cardiac features that may be seen […]
Genetic Testing and Marfan Syndrome
Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward. Therefore, working with a medical geneticist (a physician with training in genetics) […]
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COVID-19 Myths Busted
Professional Advisory Board Member Enid Neptune, MD, Johns Hopkins, addresses some of the myths around COVID-19.
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