Marfan Syndrome Diagnostic Evaluation

Initial Assessment

The European Society of Cardiology recommends a comprehensive workup for suspected Marfan syndrome, including transthoracic echocardiography to assess aortic root dimensions, complete imaging of the entire aorta and peripheral vasculature by CMR or CCT, dilated ophthalmologic examination for ectopia lentis, and application of the Ghent nosology criteria 1, 2, 3
Echocardiographic evaluation must include measurements at the aortic annulus, sinuses of Valsalva, sinotubular junction, and proximal ascending aorta, as well as assessment of left ventricular function, evaluation for aortic regurgitation, detection of mitral valve prolapse and/or mitral regurgitation, and assessment for tricuspid valve prolapse and regurgitation 2

Complete vascular imaging with CMR or CCT from head to pelvis is required at initial evaluation to visualize the entire aorta beyond the root and assess peripheral vasculature, with repeat imaging every 3-5 years if stable in patients without previous aortic surgery 1, 2
CT coronary angiography is preferred over invasive catheterization for pre-operative coronary assessment due to the risk of dissection in the weakened aortic wall 2
Holter monitoring should be performed in symptomatic patients to detect ventricular arrhythmias, conduction disturbances, and assess sudden cardiac death risk 2

A dilated eye examination by an ophthalmologist is essential to definitively identify or exclude ectopia lentis, which is one of the two cardinal features of Marfan syndrome 2, 3, 4

Molecular genetic testing for FBN1 mutations should be considered when clinical criteria are equivocal, particularly in children where age-dependent penetrance makes clinical diagnosis challenging 2
Testing for TGFBR1 and TGFBR2 mutations (Loeys-Dietz syndrome), ACTA2, MYH11, SMAD3 mutations (other heritable thoracic aortic disease) may be considered if clinical features suggest alternative diagnoses 1, 3

Alternative diagnoses to consider include Loeys-Dietz syndrome, Hypermobile Ehlers-Danlos syndrome, Bicuspid aortic valve with aortopathy, Familial thoracic aortic aneurysm syndromes, MASS phenotype, and Congenital contractural arachnodactyly (Beals syndrome) 1, 2, 3, 4