13th March 2024

Diagnostics

Diagnosis of Marfan’s syndrome can be complicated, and the criteria generally considers family history, aortic dilation or dissection, ocular lens subluxation, genetic testing for FBN-1 and physical examination findings. 

When investigating cardiovascular features of Marfan’s, aortic dilation is initially diagnosed via transthoracic echocardiogram, with at least annual monitoring. CT and MRI are used in conjugation with echocardiogram to confirm aortic dilation. Echocardiogram is also used to diagnose MVP, which will show a mitral valve with elongated leaflets and redundant appearance, affecting one or both leaflets.