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Early Systolic Dysfunction And Impact Of Gene Mutation Severity In Marfan Syndrome, Aaron Clem, Lois J. Starr, David Danford, Mary Craft, Ling Li, Jason Christensen, Anji Yetman
Early Systolic Dysfunction And Impact Of Gene Mutation Severity In Marfan Syndrome, Aaron Clem, Lois J. Starr, David Danford, Mary Craft, Ling Li, Jason Christensen, Anji Yetman
Child Health Research Institute Pediatric Research Forum
Background
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:
- Assess systolic dysfunction in patients …