Echocardiography is the Answer
C- Echo is the correct choice to rule out life-threatening complications in a patient with suspected Marfan syndrome. 1
Why Echocardiography is Essential
The most critical life-threatening complication in Marfan syndrome is aortic root dilatation leading to dissection and rupture, which accounts for the majority of mortality in these patients. 1 Echocardiography is specifically recommended as the investigation of choice because:
Transthoracic echocardiography (TTE) accurately visualizes the aortic root, which is the primary site of pathology in Marfan syndrome, making it the ideal screening and surveillance tool. 1
An echocardiogram is mandatory at the time of diagnosis to determine baseline aortic root and ascending aortic diameters, with repeat imaging at 6 months to establish the rate of enlargement. 1
Virtually every patient with Marfan syndrome develops aortic disease at some point during their lifetime, making cardiovascular assessment the highest priority. 2
What Echocardiography Evaluates
The echocardiogram must measure specific anatomical points:
- Aortic root diameter at the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta 1
- Left ventricular function 2
- Aortic valve and aortic regurgitation 2
- Mitral valve prolapse and regurgitation 2
- Tricuspid valve abnormalities 2
Why Not the Other Options
MRI (Option A) is reserved for specific situations:
- Loeys-Dietz syndrome requires yearly MRI from cerebrovascular circulation to pelvis 2
- MRI or CT should be performed in every Marfan patient eventually, but echocardiography is the first-line test 2
Chest CT (Option B) is not the primary screening tool:
- CT provides external diameter measurements and is useful for surgical planning 2
- However, it involves radiation exposure and is not recommended as the initial diagnostic test 1
Critical Risk Stratification
After the initial echocardiogram, the findings determine immediate risk:
- If aortic root diameter ≥5.0 cm: surgical intervention should be considered due to significantly increased dissection risk 3
- If diameter 4.5-5.0 cm with additional risk factors: reasonable to consider earlier surgical intervention 3
- If diameter <4.5 cm and stable: annual surveillance is appropriate 3, 1
Common Pitfall to Avoid
Do not delay echocardiography while pursuing other diagnostic tests. The echocardiogram provides immediate, actionable information about the most life-threatening complication (aortic dissection risk) and should be obtained urgently in any patient with suspected Marfan syndrome presenting with arachnodactyly and other suggestive features. 2, 1