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Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.
Am J Med Genet A
February 2020
Faculty of Medicine, University of Oslo, Institute of Clinical Medicine, Oslo, Norway.
The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology.
View Article and Find Full Text PDFAnalysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations.
J Korean Med Sci
September 2015
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
A new CT-based diagnostic method of protrusio acetabuli (PA) was introduced. However, prevalence of PA by this method and correlation between PA and other manifestations of Marfan syndrome (MFS) is unknown in Korean MFS patients. This study aimed to investigate the prevalence of PA diagnosed by a CT-based method in Korean patients with MFS, the association of PA with other manifestations of MFS, and the contribution of PA to MFS diagnosis.
View Article and Find Full Text PDFThe usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria.
Int J Cardiovasc Imaging
June 2011
Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
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.
View Article and Find Full Text PDFMarfan syndrome is a variable autosomal dominant disorder; most cases result from mutations of fibrillin-1. Diagnosis is guided by the Ghent nosology. The condition may manifest in the cardiovascular and ocular systems.
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