Le syndrome de Marfan est une maladie génétique potentiellement mortelle qui touche le tissu conjonctif du corps. Reconnaître les signes du syndrome de Marfan, parvenir au diagnostic juste et recevoir le traitement nécessaire peuvent permettre aux personnes atteintes de vivre une existence longue et épanouie.
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Diagnose Des Marfan-Syndroms
Das Marfan-Syndrom ist eine ernste Erkrankung, die lebensgefährliche Komplikationen haben kann. Dank der Fortschritte in der medizinischen Versorgung können Patienten mit Marfan-Syndrom eine normale Lebenserwartung haben, wenn sie richtig diagnostiziert und behandelt werden.
Tags: Marfan Syndrome , Patients & Families
The Role of Genetic Testing in the Diagnosis of Marfan Syndrome
For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
Decoding Genetic Insights: Navigating Possible Test Results
Understanding your genetic test results for conditions like Marfan, Loeys-Dietz, or VEDS can be challenging. Here’s a simple Q&A to help make sense of what your results may mean and what you might consider doing next.
Tags: Caregivers, Patients & Families
Know the signs.
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