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Aortic root dilates faster in patients with Marfan syndrome with stiffer aortas. The upper and lower borders of the box represent the upper and lower quartiles. The middle horizontal line represents the median. The upper and lower whiskers represent the maximum and minimum values of nonoutliers. Extra dots represent outliers. EM, Baseline elastic modulus; BSI, baseline beta stiffness index.
Source publication
Objective
Aortic root (AoR) size remains an imperfect predictor of rate of aortic dilation in Marfan syndrome (MFS). Indicators of vascular phenotype such as aortic stiffness have been proposed as additional predictors. In this study we assessed the rate of AoR dilation and stiffness in adult MFS patients.
Methods
We performed a retrospective char...
Context in source publication
Citations
Introduction: Marfan Syndrome has been a connective tissue disease affecting multiple systems of the body, requiring an interdisciplinary diagnostic and therapeutic approach. The variability in presentation and potential complications underscored the need for precise and specialized medical training. Therefore, the general objective of this research is to evaluate specific training programs to improve the diagnosis and management of Marfan Syndrome by identifying critical gaps in current medical practice.Method: Multicriteria decision-making methodologies were used, including the AHP Saaty method to quantify the incidence of diagnostic gaps and the MOORA method to prioritize medical training programs based on the improvement of the diagnosis and treatment of Marfan Syndrome.Results: The analysis revealed that insufficient knowledge and incomplete clinical evaluations are the main gaps. Priority training programs included the advanced course in clinical genetics and the training program in echocardiography, noted for their direct capacity to improve clinical outcomes.Conclusions: Medical education in genetics and echocardiography must be prioritized to effectively address Marfan Syndrome. The implementation of these programs constitutes the support to close the identified gaps. Thus, they significantly improve early diagnosis and management of complications, promoting interdisciplinary collaboration in patient care.
Background
Although the stiffness of tissue is known to play an important role in aortic dilatation, the current guidelines for offering a preventative aortic surgery in patients with Marfan syndrome rely solely on the aortic diameter. In this systematic review and meta-analysis, we analyze and compare literature on in-vivo aortic stiffness measurements in Marfan patients. Our aim is to assess the potential of these measurements as early indicators of aortic dilatation.
Methods
Following the PRISMA guidelines, we collected literature on diameter and three in-vivo stiffness measures: Pulse Wave Velocity (PWV), β -stiffness index and Distensibility, at five different aortic locations in patients with Marfan syndrome. Reported results were reviewed and compared against each other. For meta-analysis, an augmented dataset was created by combining extracted data from the reviewed literature. Regression with respect to age and statistical comparison were performed on the augmented dataset for all three measures at five different locations.
Results
30 articles reporting data from 1925 patients with Marfan and 836 patients without Marfan were reviewed. PWV was found to be statistically higher in Marfan at most aortic locations, but only when the aorta is already dilated. Distensibility was found to be lower at all aortic locations even in non-dilated aortas, and its decrease has been associated with higher chances of developing aortic dilatation. β -stiffness index was higher in Marfan patients and was positively correlated with the rate of aortic dilatation, emphasizing its role as a valuable indicator. In our meta-analysis based on a total 1197 datapoints, diameter was found to be higher only at the root ( p < 0.001). All stiffness measures showed a significant variation with age. PWV at the root and carotid-femoral region was not statistically different ( p = 0.62 and p = 0.14 respectively), but was positively correlated with age at all locations. Distensibility and β -stiffness index were different in Marfan patients at all locations, and the difference was more pronounced after accounting for age-related variation.
Conclusion
Based on the results in the literature, β -stiffness index and distensibility emerge as the best predictors of future aortic dilatation. Our meta-analysis quantifies age-related changes in aortic stiffness and highlights the importance of accounting for age in comparing these measurements. Missing diameter values in the literature limited our analysis. Further analysis based on combined aortic stiffness and diameter criteria is recommended to evaluate aortic disease in a comprehensive way and assist clinical decisions for prophylactic surgery.
