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)To read this article in full you will need to make a payment
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References
- The revised Ghent nosology for the Marfan syndrome.J Med Genet. 2010; 47: 476-485
- A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome.Genet Med. 2013; 15 ([published correction appears in Genet Med. 2015;17(1):93]): 528-532
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Article Info
Publication History
Published online: January 05, 2018
Footnotes
For editorial comment, see page 136
Potential Competing Interests: The authors report no competing interests.
Data Previously Presented: These data were presented at the AATS Aortic Symposium in New York, NY, May 12-13, 2016.
Identification
Copyright
© 2017 Mayo Foundation for Medical Education and Research
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Access this article on ScienceDirectLinked Article
- Aortic Root Dilation in Patients With Leptosomic FeaturesMayo Clinic ProceedingsVol. 93Issue 2
- PreviewMarfan 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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