Le persone affette da sindrome di Marfan spesso hanno problemi al cuore e ai vasi sanguigni, a volte anche molto gravi. La complicazione più comune riguarda l’aorta (il vaso sanguigno che porta il sangue dal cuore al resto dell’organismo). Possono essere interessate anche le valvole cardiache. Più raramente sono colpiti vasi sanguigni diversi dall’aorta. È importante arrivare a una diagnosi precoce e accurata per poter individuare e gestire i problemi medici del cuore e dei vasi sanguigni prima che si trasformino in emergenze potenzialmente letali.
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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 […]
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