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Marfan syndrome is caused by a mutation in the fibrillin-1 gene that manifests with a variety of features including aortic root dilation. Recent research has identified a primary cardiomyopathy in patients with Marfan syndrome, hypothesized to be due to the presence of abnormal fibrillin-1 in the myocardium. Controversy over the nature and significance of this cardiomyopathy remains. Echocardiographic measurement of the first-phase of ejection (defined as the beginning of systole to peak aortic valve flow) may be more sensitive to systolic dysfunction and provide useful clinical information. The purpose of this study is to:

  1. Assess systolic dysfunction in patients with Marfan syndrome
  2. Describe first-phase fractional area change (FAC1) in patients with Marfan syndrome and determine how it varies between Marfan syndrome patients and a control group
  3. Verify there is a difference in propensity for cardiomyopathy in mild vs severe gene mutation Marfan syndrome patients not secondary to increased aortic stiffness


Patients were identified from a pre-existing list of patients with Marfan syndrome maintained by the Children's Hospital and Medical Center and University of Nebraska Medical Center. All relevant medical records were reviewed. Echocardiographic parameters will include left ventricular (LV) ejection fraction, LV FAC1, LV end-diastolic volume, global longitudinal strain, aortic root diameter, and aortic stiffness. Patients were excluded if they have more than mild aortic insufficiency or mitral valve regurgitation. Neonatal Marfan syndrome patients and patients with other significant congenital heart disease will also be excluded. Statistical analysis of the data will be performed including basic statistical tests, univariate regression, and multivariate regression to compare data from each group. P values will be calculated and a p value < 0.05 will be considered statistically significant.


At the time of writing, 126 patients with Marfan syndrome have been identified. 44 were excluded based on significant mitral or aortic valve disease, prior cardiovascular surgery, or poor echocardiographic image quality. Of the 82 patients not excluded, genetic testing results are available for 59 and are being categorized to allow for statistical analysis. Echocardiographic measurements are underway.

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Cardiology | Pediatrics

Early Systolic Dysfunction and Impact of Gene Mutation Severity in Marfan Syndrome