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Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features?
Meghana R K Helder1, Hartzell V Schaff1, Thomas A Foley2
1Division of Cardiovascular Surgery, Mayo Clinic, Rochester, MN.
Objective:
To discover whether patients with aortic root dilation and leptosomic features but without a diagnosis of Marfan syndrome (MFS) fare similarly to patients with MFS.
Methods:
Of 124 patients with aortic root dilation identified from August 1, 1994, through October 31, 2012, 66 had MFS and 58 had leptosomic features but did not meet the Ghent criteria. Genetic testing was performed in 35% of patients (n=43). We compared z scores and aortic root diameters for patients who presented with aortic root dilation with and without an MFS diagnosis and with and without aortic root repair.
Results:
No difference existed in initial aortic root diameters between groups (P=.15); however, mean ± SD z scores for patients without MFS and with MFS were 3.1±2.3 vs 4.5±3.2 (P=.005). Fourteen of 58 patients (24%) without MFS and 35 (53%) with MFS underwent aortic root operations (P<.05). For both groups who did not have surgery, aortic root diameters and z scores remained similar at follow-up (P=.20), as did 10-year survival: MFS, 100%; no MFS, 94.1% (P=.98). No significant difference was found for mean ± SD root diameter (no MFS, 38.9±7.3 mm; MFS, 35±8.6 mm; P=.06) or z score (no MFS, 2.4±2.0; MFS, 2.1±2.0; P=.53) for patients who underwent surgery. Two patients in each group had aortic root dissections.
Conclusion:
Similar rates of aortic dissection between the 2 groups warrant further study regarding patients with leptosomic features but no diagnosis of MFS. Aortic root dilation progressed similarly in patients who did not undergo surgery.
Insights
Patients with aortic root dilation and leptosomic features without Marfan syndrome (MFS) showed similar aortic progression and survival rates compared to MFS patients. Further study is warranted for aortic dissection rates in this group.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Medical Diagnostics
Background:
- Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to aortic root dilation.
- Patients with aortic root dilation and leptosomic features may present without meeting full MFS diagnostic criteria.
- Understanding the clinical course of these patients is crucial for appropriate management.
Purpose of the Study:
- To compare the clinical outcomes of patients with aortic root dilation and leptosomic features who do not meet MFS criteria versus those diagnosed with MFS.
- To assess differences in aortic root diameter progression, surgical intervention rates, and survival between these groups.
Main Methods:
- Retrospective analysis of 124 patients with aortic root dilation (1994-2012).
- Patients were categorized into MFS (n=66) and non-MFS with leptosomic features (n=58).
- Comparison of initial and follow-up aortic root diameters (z scores), surgical rates, and survival, with genetic testing in a subset.
Main Results:
- Initial aortic root diameters were similar; however, MFS patients had higher mean z scores (4.5±3.2 vs 3.1±2.3).
- Fewer non-MFS patients underwent aortic root operations (24% vs 53%).
- Aortic root diameters and z scores remained similar at follow-up in non-surgical patients, with comparable 10-year survival (94.1% vs 100%) and similar dissection rates (2 per group).
Conclusions:
- Patients with aortic root dilation and leptosomic features without MFS exhibit similar aortic progression and survival rates to MFS patients.
- The similar rates of aortic dissection suggest a need for further investigation into this patient cohort.
- Management strategies may need to consider the shared risk factors for aortic complications.
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