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Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features?

Published:January 05, 2018DOI:https://doi.org/10.1016/j.mayocp.2017.10.018

      Abstract

      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.

      Abbreviations and Acronyms:

      BSA (body surface area), MFS (Marfan syndrome)
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      Linked Article

      • Aortic Root Dilation in Patients With Leptosomic Features
        Mayo Clinic ProceedingsVol. 93Issue 2
        • Preview
          Marfan syndrome is an autosomal-dominant disorder usually due to mutations in the FBN1 gene, which encodes the protein fibrillin; a mutation in FBN1 can be defined in up to 97% of the patients with Marfan syndrome.1 Patients with Marfan syndrome are at risk for developing aortic aneurysm and dissection, and these patients need genetic and exercise counseling, and regular follow-up to monitor aortic size to determine the timing for aortic root replacement. These risks of aortic aneurysm and dissection and the need for closely monitoring aortic size highlight the importance of establishing the diagnosis of Marfan syndrome.
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