PURPOSE: To compare the Berlin and Ghent diagnostic criteria for Marfan syndrome and evaluate the utility of screening for dural ectasia in the diagnosis of Marfan syndrome. METHODS: Review of clinical and radiographic data on 73 patients evaluated for Marfan syndrome at the National Institutes of Health. RESULTS: Nineteen percent of patients diagnosed under the Berlin criteria failed to meet the Ghent standard. Dural ectasia was the second most common major diagnostic manifestation, and screening for dural ectasia established the diagnosis of Marfan syndrome in 23% of patients under the Ghent criteria. CONCLUSIONS: Some patients are appropriately excluded from the diagnosis of Marfan syndrome by the Ghent criteria. Determination of dural ectasia is valuable in the diagnosis of Marfan syndrome.
PURPOSE: To compare the Berlin and Ghent diagnostic criteria for Marfan syndrome and evaluate the utility of screening for dural ectasia in the diagnosis of Marfan syndrome. METHODS: Review of clinical and radiographic data on 73 patients evaluated for Marfan syndrome at the National Institutes of Health. RESULTS: Nineteen percent of patients diagnosed under the Berlin criteria failed to meet the Ghent standard. Dural ectasia was the second most common major diagnostic manifestation, and screening for dural ectasia established the diagnosis of Marfan syndrome in 23% of patients under the Ghent criteria. CONCLUSIONS: Some patients are appropriately excluded from the diagnosis of Marfan syndrome by the Ghent criteria. Determination of dural ectasia is valuable in the diagnosis of Marfan syndrome.
Authors: Santhi K Ganesh; Rachel Morissette; Zhi Xu; Florian Schoenhoff; Benjamin F Griswold; Jiandong Yang; Lan Tong; Min-Lee Yang; Kristina Hunker; Leslie Sloper; Shinie Kuo; Rafi Raza; Dianna M Milewicz; Clair A Francomano; Harry C Dietz; Jennifer Van Eyk; Nazli B McDonnell Journal: FASEB J Date: 2014-04-14 Impact factor: 5.191
Authors: Yskert von Kodolitsch; Julie De Backer; Helke Schüler; Peter Bannas; Cyrus Behzadi; Alexander M Bernhardt; Mathias Hillebrand; Bettina Fuisting; Sara Sheikhzadeh; Meike Rybczynski; Tilo Kölbel; Klaus Püschel; Stefan Blankenberg; Peter N Robinson Journal: Appl Clin Genet Date: 2015-06-16