A diagnosis based on the score necessitates lifestyle changes. High-intensity contact sports, heavy weightlifting, and isometric exercises are usually restricted to prevent sudden spikes in blood pressure that could rupture the aorta.
Once a diagnosis is confirmed via the score, beta-blockers or ARBs (Angiotensin Receptor Blockers) are often prescribed to lower blood pressure and reduce stress on the aorta.
Before 2010, diagnosis relied heavily on the "Berlin Nosology," which often missed atypical cases. The turning point came with the discovery of the FBN1 gene (fibrillin-1). However, genetic testing revealed a problem: Not everyone with an FBN1 mutation has Marfan syndrome (some have related conditions like MASS phenotype or geleophysic dysplasia).
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