Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
권호 표지
DOI QR코드

DOI QR Code

Clinical Characteristics of Marfan Syndrome in Korea

  • Lim, A Young (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Song, Ju Sun (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Eun Kyoung (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jang, Shin Yi (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Chung, Tae-Young (Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Choi, Seung-Hyuk (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sung, Kiick (Department of Thoracic and Cardiovascular Surgery, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, June (Department of Pediatrics, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kang, I-Seok (Department of Pediatrics, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Choe, Yeon Hyeon (Department of Radiology, HVSI Imaging Center, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Duk-Kyung (Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2016.01.22
  • Accepted : 2016.04.05
  • Published : 2016.11.30
⟨ Previous Next ⟩

Abstract

Background and Objectives: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. Subjects and Methods: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ${\geq}15$ years who satisfied the revised Ghent nosology were included. Results: The mean patient age at diagnosis was $35.9{\pm}12.6$ years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ${\geq}2$ or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ${\geq}7$ was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up. Conclusion: We described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.

Keywords

References

  1. Pyeritz RE. Marfan syndrome. N Engl J Med 1990;323:987-9. https://doi.org/10.1056/NEJM199010043231409
  2. Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005;366:1965-76. https://doi.org/10.1016/S0140-6736(05)67789-6
  3. von Kodolitsch Y, De Backer J, Schuler H, et al. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet 2015;8:137-55.
  4. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85. https://doi.org/10.1136/jmg.2009.072785
  5. Yoo EH, Woo H, Ki CS, et al. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Clin Genet 2010;77:177-82. https://doi.org/10.1111/j.1399-0004.2009.01287.x
  6. Yang JH, Han H, Jang SY, et al. A comparison of the Ghent and revised Ghent nosologies for the diagnosis of Marfan syndrome in an adult Korean population. Am J Med Genet A 2012;158A:989-95. https://doi.org/10.1002/ajmg.a.34392
  7. Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr 2015;28:1-39. e14. https://doi.org/10.1016/j.echo.2014.10.003
  8. Kim EK, Choi SH, Sung K, et al. Aortic diameter predicts acute type A aortic dissection in patients with Marfan syndrome but not in patients without Marfan syndrome. J Thorac Cardiovasc Surg 2014;147:1505-10. https://doi.org/10.1016/j.jtcvs.2013.05.025
  9. Devereux RB, de Simone G, Arnett DK, et al. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons >/=15 years of age. Am J Cardiol 2012;110:1189-94. https://doi.org/10.1016/j.amjcard.2012.05.063
  10. Lin FY, Devereux RB, Roman MJ, et al. Assessment of the thoracic aorta by multidetector computed tomography: age- and sex-specific reference values in adults without evident cardiovascular disease. J Cardiovasc Comput Tomogr 2008;2:298-308. https://doi.org/10.1016/j.jcct.2008.08.002
  11. Williams A, Davies S, Stuart AG, Wilson DG, Fraser AG. Medical treatment of Marfan syndrome: a time for change. Heart 2008;94:414-21.
  12. Sohn GH, Jang SY, Moon JR, et al. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging 2011;27:679-88. https://doi.org/10.1007/s10554-011-9867-5
  13. Akutsu K, Morisaki H, Takeshita S, et al. Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. Am J Cardiol 2009;103:1146-8. https://doi.org/10.1016/j.amjcard.2008.12.037
  14. Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 2007;81:454-66. https://doi.org/10.1086/520125
  15. Franken R, den Hartog AW, van de Riet L, et al. Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome. Circ J 2013;77:2793-8. https://doi.org/10.1253/circj.CJ-13-0584

Cited by

  1. Association between malignancies and Marfan syndrome: a population-based, nested case–control study in Taiwan vol.7, pp.10, 2016, https://doi.org/10.1136/bmjopen-2017-017243
  2. Increased risk of malignancy in patients with an aortic aneurysm: a nationwide population-based retrospective study vol.9, pp.2, 2016, https://doi.org/10.18632/oncotarget.20181
  3. Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults vol.40, pp.2, 2016, https://doi.org/10.1007/s00246-018-2025-2