The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria

Abstract

The Ghent nosology is the gold standard in the diagnosis of Marfan syndrome. In Ghent nosology, clinical features are assessed within seven body systems. The diagnosis of Marfan syndrome requires both a major criterion in two systems and the involvement of a third system. The purpose of this study was to evaluate the usefulness of multidetector computed tomographic (MDCT) angiography in the diagnosis of Marfan syndrome by Ghent nosology. Forty-nine patients (mean age: 33.2 ± 11.7 year, male:female = 25:24) with Marfan syndrome who had undergone 64-slice MDCT angiography of the aorta were included in this study. The Ghent criteria were evaluated by MDCT. MDCT could give positive signs for criteria in four body systems (skeletal, cardiovascular, pulmonary, and dural systems), identifying specific involvements, such as pectus deformity, scoliosis, spondylolisthesis, protrusio acetabuli, dilatation or dissection of the aorta, dilatation of the main pulmonary artery, mitral annulus calcification, apical blebbing, and dural ectasia. Twenty-nine (49%) of 49 patients fulfilled more than 2 major criteria. MDCT alone was sufficient for the diagnosis of Marfan syndrome in 24% of patients. Our study shows that knowledge and awareness of MDCT findings relevant to the Ghent nosology give important clues for the diagnosis of Marfan syndrome that provides better patient care. © 2011 Springer Science+Business Media, B.V.