NOVYE PODKhODY K DIAGNOSTIKE SINDROMA MARFANA



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Abstract

The article is dedicated to main principles of Marfan syndrome diagnostics in the light of new Ghent nosology2010. Special attention is paid to differential diagnostics of this disease.

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НОВЫЕ ПОДХОДЫ К ДИАГНОСТИКЕ СИНДРОМА МАРФАНА
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About the authors

E B Luneva

Federal Center of Heart, Blood and Endocrinology named after V. A. Almazov

N N Parfenova

St. Petersburg Pediatric State Medical University

A L Korshunova

St. Petersburg Pediatric State Medical University

E V Zemtsovsky

Federal Center of Heart, Blood and Endocrinology named after V. A. Almazov; St. Petersburg Pediatric State Medical University

References

  1. Marfan M.-A.-B. Un cas de deformation congenitale des quatre membres, plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement // Bull. Mem. Soc. Med. Hop. Paris. — 1896. — 13. — P. 220-226.
  2. Etter L. E., Glover L. P. Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of aorta //JAMA. — 1943. — 123. — P. 88-89.
  3. Murdoch J. L., Walker B. A., Halpern B. L., Kuzma J. W., McKusick V. A. Life expectancy and causes of death in the Marfan syndrome // N. Engl. J. Med. — 1972. — № 286. — P. 804-808.
  4. Hollister D. W., Godfrey M., Sakai L. Y., Pyeritz R. E. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome // N. Engl. J. Med. — 1990. — № 323. — P. 152-159.
  5. Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome // N. Engl. J. Med. — 1990. — № 323. — P. 935-939.
  6. Neptune E. R., Frischmeyer P. A., Arking D. E., Myers L., Bunton T. E., Gayraud B., Ramirez F., Sakai L. Y., Dietz H. C. Dysregulation of TGF-p activation contributes to pathogenesis in Marfan syndrome // Nat. Genet. — 2003. — Vol. 33. — P. 407-411.
  7. Ng C. M., Cheng A., Myers L. A., Martinez-Murillo F., Jie C., Bedja D., Gabrielson K. L., Hausladen J. M., Mecham R. P., Judge D. P. TGF-P-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome // J. Clin. Invest. — 2004. — Vol. 114. — P. 1586-1592.
  8. Mc Kusick V. A. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue // Circulation. — 1955. — Vol. 11. — P. 321-342.
  9. Beighton P., de Paepe A., Danks D., Finidori G., Gedde-Dahl T., Goodman R., Hall J. G., Hollister D. W., Horton W., McKusick V. A. International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986 // Am. J. Med. Genet. — 1988. — Vol. 29. — P. 581-594.
  10. De Paepe A., Devereux R. B., Dietz H. C. Revised diagnostic criteria for the Marfan syndrome // Am J. Med. Gen. — 1996. — Vol. 62. — P. 417-426.
  11. Loeys B., Nuytinck L., Delvaux I., De Bie S., De Paepe A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome // Arch. Intern. Med. — 2001. — Vol. 161. — P. 2447-2454.
  12. Loeys B., De Backer J., Van Acker P., Wettinck K., Pals G., Nuytinck L., Coucke P., De Paepe A. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome // Hum. Mutat. — 2004. — Vol. 24. — P. 140-146.
  13. Bart L. Loeys, Harry C. Dietz, Alan C. Braverman. The revised Ghent nosology for the Marfan syndrome // J. Med. Genet. — 2010. — Vol. 47. — P. 476-485.
  14. Akutsu K., Morisaki H., Okajima T. Genetic Analysis of Young Adult Patients With Aortic Disease Not Fulfilling the Diagnostic Criteria for Marfan Syndrome // Circ. J. — 2010. — Vol. 74. — P. 990-997.
  15. Земцовский Э. В., Мартынов Ф. И., Мазуров В. И. Наследственные нарушения соединительной ткани. Российские рекомендации // Кардиоваскулярная терапия и профилактика. — 2009. — Vol. 8(6). — Приложение 5 ISSN 1728-8800.
  16. Favre L., Collod-Beroud G., Child A. Contribution of molecular analyses in diagnosting Marfan syndrome and type 1 fibrillinopathyes: an international study of 1009 probands // J. Med. Genet. — 2008. — Vol. 45. — P. 384-390.
  17. Roman M. J., Devereux R. B., Kramer-Fox R., O'Loughlin J. Cornell data-based formulae Two-dimensional echocardiographic aortic root dimensions in normal children and adults // Am J. Cardiol. — 1989. — Vol. 64(8). — P. 507-512.
  18. Hiratzka L. F., Bakris G. L., Beckman J. A., Bersin R. M., Carr V. F., Casey D. E. Jr. 2010 ACCF/AHA/AATS/ACR/ ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: executive summary. A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine //J. Am. Coll. Cardiol. — 2010. — Vol. 55 (14). — P. e27-e129.
  19. Baumgartner H., Bonhoeffer P., De Groot N. M., de Haan F., Deanfield J. E. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010) //Eur. Heart J. — 2010. — Dec. 31 (23). — P. 2915-2957.

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Copyright (c) 2012 Luneva E.B., Parfenova N.N., Korshunova A.L., Zemtsovsky E.V.

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