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A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

Authors

  • Jeong Hoon Yang,

    1. Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Hyejin Han,

    1. Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Shin Yi Jang,

    1. Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Ju Ryoung Moon,

    1. Department of Pediatrics, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Kiick Sung,

    1. Department of Thoracic and Cardiovascular Surgery, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Tae-Young Chung,

    1. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Heung Jae Lee,

    1. Department of Pediatrics, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
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  • Chang-Seok Ki MD, PhD,

    Corresponding author
    1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    • Chang-Seok Ki, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea.

      Duk-Kyung Kim, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea.

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  • Duk-Kyung Kim MD, PhD

    Corresponding author
    1. Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    • Chang-Seok Ki, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea.

      Duk-Kyung Kim, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, Korea.

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  • Conflict of interest: The authors declare no conflict of interest.

  • How to Cite this Article: Yang JH, Han H, Jang SY, Moon JR, Sung K, Chung T-Y, Lee HJ, Ki C-S, Kim D-K. 2011. A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. Am J Med Genet Part A. 158A:989–995.

Abstract

Recently, a revised Ghent nosology has been established for the diagnosis of Marfan syndrome (MFS) that puts more weight on the aortic root aneurysm and ectopia lentis. We compared the application of the Ghent and revised Ghent nosologies in adult Korean patients for whom there is suspicion of MFS. From January 1995 to June 2010, we enrolled 106 patients older than 20 years for whom there was suspicion of MFS, and who had undergone genetic analysis of the fibrillin-1 gene (FBN1). Of 106 patients, 86 patients (81%) fulfilled the criteria of the Ghent nosology, and 84 patients (79%) met the criteria of the revised Ghent nosology. The two patients who met the Ghent nosology criteria, but not the criteria of the revised Ghent nosology were diagnosed with Loeys–Dietz syndrome and MASS phenotype. The level of agreement between both nosologies was very high (κ = 0.94, 95% confidence interval: 0.86 to 1.0). Marfan-like syndromes were diagnosed in 30% (6/20 patients) with negative Ghent and revised Ghent criteria and no FBN1 mutations. These results suggest that adult Korean patients who fulfill the old Ghent criteria almost all fulfill the new criteria for the diagnosis of MFS. © 2011 Wiley Periodicals, Inc.

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