Ниже в алфавитном порядке приводится список публикаций в зарубежных научных изданиях по теме «Наследственные нарушения соединительной ткани».
1. Aalberts J.J., Waterbolk T.W., van Tintelen J.P. et al. Prophylactic aortic root surgery in patients with Marfan syndrome: 10 years’ experience with a protocol based on body surface area. Eur J Cardiothorac Surg. 2008; 34(3): 589–99. doi: 10.1016/j.ejcts.2008.04.035.
2. Abboud E.B. Retinal detachment surgery in Marfan’s syndrome. Retina. 1998; 18(5): 405–09. doi: 10.1097/00006982-199805000-00003.
3. Adams J.N., Brooks M., Redpath T.W. et al. Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan’s syndrome. Br Heart J. 1995; 73(3): 265–69. doi: 10.1136/hrt.73.3.265.
4. Adams J.N., Trent R.J. Aortic complications of Marfan’s syndrome. Lancet. 1998; 352(9142): 1722–23. doi: 10.1016/S0140-6736(05)79822-6.
5. Ades L.C., Holman K.J. Brett M.S. et al. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004; 126A(3): 284–89. doi: 10.1002/ajmg.a.20605.
7. Ahn N.U., Nallamshetty L., Ahn U.M. et al. Dural ectasia and conventional radiography in the Marfan lumbosacral spine. Skeletal Radiol. 2001; 30(6): 338–45. doi: 10.1007/s002560100323.
8. Ahram D., Sato T.S., Kohilan A. et al. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009; 84(2): 274–78. doi: 10.1016/j.ajhg.2009.01.007.
9. Akhurst R.J. TGF beta signaling in health and disease. Nat Genet. 2004; 36(8): 790–92. doi: 10.1038/ng0804-790.
10. 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(8): 1146–48. doi: 10.1016/j.amjcard.2008.12.037.
11. Alpendurada F., Wong J., Kiotsekoglou A. et al. Evidence for Marfan cardiomyopathy. Eur J Heart Fail. 2010; 12(10): 1085–91. doi: 10.1093/eurjhf/hfq127.
12. Attias D., Stheneur C., Roy C. et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 2009; 120(25): 2541–49. doi: 10.1161/CIRCULATIONAHA.109.887042.
13. Atzinger C.L., Meyer R.A., Khoury P.R. et al. 2011. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers–Danlos syndrome. J Pediatr. 2011; 158(5): 826–30.e1. doi: 10.1016/j.jpeds.2010.11.023.
14. Basso C., Boschello M., Perrone C. et al. An echocardiographic survey of primary school children for bicuspid aortic valve. Am J Cardiol. 2004; 93(5): 661–63. doi: 10.1016/j.amjcard.2003.11.031.
15. Baumann M., Giunta C., Krabichler B. et al. Mutations in FKBP14 cause a variant of Ehlers–Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet. 2012; 90(2): 201–16. doi: 10.1016/j.ajhg.2011.12.004.
16. Baumgartner H., Bonhoeffer P., De Groot N.M.S. et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J. 2010; 31(23): 2915–57. doi: 10.1093/eurheartj/ehq249.
17. Bee K.J., Wilkes D., Devereux R.B. et al. Structural and functional genetic disorders of the great vessels and outflow tracts. Ann N Y Acad Sci. 2006; 1085: 256–69. doi: 10.1196/annals.1383.002.
18. Beighton P., de Paepe A., Danks D. et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988; 29(3): 581–94. doi: 10.1002/ajmg.1320290316.
19. Beighton P., De Paepe A., Steinmann B. et al. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers–Danlos National Foundation (USA) and Ehlers–Danlos Support Group (UK). Am J Med Genet. 1998; 77(1): 31–37. doi: 10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
20. Bowen J.M., Sobey G.J., Burrows N.P. et al. 2017. Ehlers–Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017; 175(1): 27–39. doi: 10.1002/ajmg.c.31548.
21. Braverman A.C., Harris K.M., Kovacs R.J. et al. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan syndrome: a scientific statement from the American Heart Association and American College of Cardiology. Circulation. 2015; 132(22): e303–09. doi: 10.1161/CIR.0000000000000243.
22. Brignole M., Moya A., de Lange F.J. et al. 2018 ESC Guidelines for the diagnosis and management of syncope. Eur Heart J. 2018; 39(21): 1883–948. doi: 10.1093/eurheartj/ehy037.
23. Brooke B.S., Habashi J.P., Judge D.P. et al. Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med. 2008; 358: 2787–95. N Engl J Med. 2008; 358(26): 2787–95. doi: 10.1056/NEJMoa0706585.
24. Bruno L., Tredici S., Mangiavacchi M. et al. Cardiac, skeletal, and ocular abnormalities in patients with Marfan’s syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis. Br Heart J. 1984; 51(2): 220–30. doi: 10.1136/hrt.51.2.220.
25. Callewaert B.L., Loeys B.L., Ficcadenti A. et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat. 2009; 30(3): 334–41. doi: 10.1002/humu.20854.
26. Callewaert B.L., Willaert A., Kerstjens-Frederikse W.S. et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008; 29(1): 150–58. doi: 10.1002/humu.20623.
27. Cameron D.E., Alejo D.E., Patel N.D. et al. Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years. 2009; 87(5): 1344–49; discussion 1349–50. doi: 10.1016/j.athoracsur.2009.01.073.
28. Camerota F., Castori M., Celletti C. et al. Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type. Clin Rheumatol. 2014; 33(7): 981–87. doi: 10.1007/s10067-014-2618-y.
29. Chiu H.H., Wu M.H., Wang J.K. et al. Losartan added to β-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc. 2013; 88(3): 271–76. doi: 10.1016/j.mayocp.2012.11.005.
30. Collins M.J., Dev V., Strauss B.H. et al. Variation in the histopathological features of patients with ascending aortic aneurysms: a study of 111 surgically excised cases. J Clin Pathol. 2008; 61(4): 519–23. doi: 10.1136/jcp.2006.046250.
31. Collod-Beroud G., Le Bourdelles S., Ades L. et al. Update of the UMD–FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003; 22(3): 199–208. doi: 10.1002/humu.10249.
32. Coucke P.J., Willaert A., Wessels M.W. et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006; 38(4): 452–57. doi: 10.1038/ng1764.
33. Dagoneau N., Benoist-Lasselin C., Huber C. et al. ADAMTS10 mutations in autosomal recessive Weill–Marchesani syndrome. Am J Hum Genet. 2004; 75(5): 801–06. doi: 10.1086/425231.
34. David T.E., Armstrong S., Maganti M. et al. Long-term results of aortic valve-sparing operations in patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2009; 138(4): 859–64; discussion 863–64. doi: 10.1016/j.jtcvs.2009.06.014.
35. David T.E. Surgical treatment of ascending aorta and aortic root aneurysms. Prog Cardiovasc Dis. 2010; 52(5): 438–44. doi: 10.1016/j.pcad.2009.12.005.
36. De Backer J., Loeys B., Devos D. et al. A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome. Genet Med. 2006; 8(7): 401–08. doi: 10.1097/01.gim.0000223550.41849.e3.
37. De Paepe A., Devereux R.B., Dietz H.C. et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62(4): 417–26. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R.
38. Desir J., Snzajer Y., Depasse F. et al. LTBP2 mutations in autosomal recessive syndrome with megalocornia, spherophakia and secondary glaucoma. Eur J Hum Genet. 2010; 18(7): 761–67. doi: 10.1038/ejhg.2010.11.
39. Devereux R.B., Brown W.T., Kramer-Fox R. et al. Inheritance of mitral valve prolapse: effect of age and sex on gene expression. Ann Intern Med. 1982; 97(6): 826–32. doi: 10.7326/0003-4819-97-6-826.
40. Dietz H.C., Cutting G.R., Pyeritz R.E. et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352(6333): 337–39. doi: 10.1038/352337a0.
41. Dietz H.C., McIntosh I., Sakai L.Y. et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993; 17(2): 468–75. doi: 10.1006/geno.1993.1349.
42. Dietz H.C., Ramirez F., Sakai L.Y. Marfan’s syndrome and other microfibrillar diseases. Adv Hum Genet. 1994; 22: 153–86. doi: 10.1007/978-1-4757-9062-7_4.
43. Disse S., Abergel E., Berrebi A. et al. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet. 1999; 65(5): 1242–51. doi: 10.1086/302624.
44. Dolan A.L., Mishra M.B,. Chambers J.B. et al. Clinical and echocardiographic survey of the Ehlers–Danlos syndrome. Br J Rheumatol. 1997; 36(4): 459–62. doi: 10.1093/rheumatology/36.4.459.
45. Doyle J.J., Doyle A.J., Wilson N.K. et al. A deleterious gene-by-environment interaction imposed by calcium channel blockers in Marfan syndrome. Elife. 2015; 4: e08648. doi: 10.7554/eLife.08648.
46. Dyhdalo K., Farver C. Pulmonary histologic changes in Marfan syndrome: a case series and literature review. Am J Clin Pathol. 2011; 136(6): 857–63. doi: 10.1309/AJCP79SNDHGKQFIN.
47. Edwards M.J., Challinor C.J., Colley P.W. et al. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet. 1994; 53(1): 65–71. doi: 10.1002/ajmg.1320530114.
48. Erbel R., Aboyans V., Boileau C. et al. 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35(41): 2873–926. doi: 10.1093/eurheartj/ehu281.
49. Erkula G., Jones K.B., Sponseller P.D. et al. Growth and maturation in Marfan syndrome. Am J Med Genet. 2002; 109(2): 100–15. doi: 10.1002/ajmg.10312.
50. Faivre L., Collod-Beroud G., Callewaert B. et al. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009; 149A(5): 854–60. doi: 10.1002/ajmg.a.32809.
51. Faivre L., Collod-Beroud G., Child A. et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet. 2008; 45(6): 384–90. doi: 10.1136/jmg.2007.056382.
52. Faivre L., Collod-Beroud G., Loeys B.L. 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(3): 454–66. doi: 10.1086/520125.
53. Faivre L., Dollfus H., Lyonnet S. et al. Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome. Am J Med Genet A. 2003; 123A(2): 204–07. doi: 10.1002/ajmg.a.20289.
54. Faivre L., Gorlin R.J., Wirtz M.K. et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill–Marchesani syndrome. J Med Genet. 2003; 40(1): 34–36. doi: 10.1136/jmg.40.1.34.
55. Faivre L., Masurel-Paulet A., Collod-Beroud G. et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009; 123(1): 391–98. doi: 10.1542/peds.2008-0703.
56. Fattori R., Nienaber C.A., Descovich B. et al. Importance of dural ectasia in phenotypic assessment of Marfan’s syndrome. Lancet. 1999; 354(9182): 910–13. doi: 10.1016/s0140-6736(98)12448-0.
57. Finkbohner R., Johnston D., Crawford E.S. et al. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation. 1995; 91(3): 728–33. doi: 10.1161/01.cir.91.3.728.
58. Fuhrhop S.K., McElroy M.J., Dietz H.C. 3rd et al. High prevalence of cervical deformity and instability requires surveillance in Loeys–Dietz syndrome. J Bone Joint Surg Am. 2015; 97(5): 411–19. doi: 10.2106/JBJS.N.00680.
59. Giunta C., Elcioglu N.H., Albrecht B. et al. Spondylocheiro dysplastic form of the Ehlers–Danlos syndrome – an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet. 2008; 82(6): 1290–305. doi: 10.1016/j.ajhg.2008.05.001.
60. Glesby M.J., Pyeritz R.E. Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. JAMA. 1989; 262(4): 523–28.
61. Gott V.L., Greene P.S., Alejo D.E. et al. Replacement of the aortic root in patients with Marfan’s syndrome. N Engl J Med. 1999; 340(17): 1307–13. doi: 10.1056/NEJM199904293401702.
62. Gott V.L., Pyeritz R.E., Magovern G.J. Jr et al. Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients. N Engl J Med. 1986; 314(17): 1070–74. doi: 10.1056/NEJM198604243141702.
63. Gott V.L. Antoine Marfan and his syndrome: one hundred years later. Md Med J. 1998; 47(5): 247–52.
64. Groenink M., de Roos A., Mulder B.J. et al. Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping. Radiology. 2001; 219(2): 535–40. doi: 10.1148/radiology.219.2.r01ma01535.
65. Groenink M., de Roos A., Mulder B.J. et al. Changes in aortic distensibility and pulse wave velocity assessed with magnetic resonance imaging following beta-blocker therapy in the Marfan syndrome. Am J Cardiol. 1998; 82(2): 203–08. doi: 10.1016/s0002-9149(98)00315-4.
66. Groenink M., den Hartog A.W., Franken R. et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013; 34(45): 3491–500. doi: 10.1093/eurheartj/eht334.
67. Guo D., Hasham S., Kuang S.Q. et al. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 2001; 103(20): 2461–68. doi: 10.1161/01.cir.103.20.2461.
68. Guo D.C., Pannu H., Tran-Fadulu V. et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007; 39(12): 1488–93. doi: 10.1038/ng.2007.6.
69. Guo D.C., Papke C.L., Tran-Fadulu V. et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009; 84(5): 617–27. doi: 10.1016/j.ajhg.2009.04.007.
70. Gupta P.A., Putnam E.A., Carmical S.G. et al. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002; 19(1): 39–48. doi: 10.1002/humu.10017.
71. Habashi J.P., Judge D.P., Holm T.M. et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006; 312(5770): 117–21. doi: 10.1126/science.1124287.
72. Hahn R.T., Roman M.J., Mogtader A.H., Devereux R.B. Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. J Am Coll Cardiol. 1992; 19(2): 283–88. doi: 10.1016/0735-1097(92)90479-7.
73. Hakim A.J., Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract. 2003; 57(3): 163–66.
74. Hall J.R., Pyeritz R.E., Dudgeon D.L., Haller J.A. Jr. Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg. 1984; 37(6): 500–04. doi: 10.1016/s0003-4975(10)61142-3.
75. Halushka M.K. Angelini A., Bartoloni G. et al. Consensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association For European Cardiovascular Pathology: II. Noninflammatory degenerative diseases – nomenclature and diagnostic criteria. Cardiovasc Pathol. 2016; 25(3): 247–57. doi: 10.1016/j.carpath.2016.03.002.
76. Hautala T., Heikkinen J., Kivirikko K.I. et al. A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers–Danlos syndrome in two siblings. Genomics. 1993; 15(2): 399–404. doi: 10.1006/geno.1993.1074.
77. Helder M.R., Schaff H.V., Dearani J.A. et al. Management of mitral regurgitation in Marfan syndrome: Outcomes of valve repair versus replacement and comparison with myxomatous mitral valve disease. J Thorac Cardiovasc Surg. 2014; 148(3): 1020–24; discussion 1024. doi: 10.1016/j.jtcvs.2014.06.046.
78. Hess P.J. Jr, Harman P.K. Klodell C.T. et al. Early outcomes using the Florida sleeve repair for correction of aortic insufficiency due to root aneurysms. Ann Thorac Surg. 2009; 87(4): 1161–68; discussion 1168–69. doi: 10.1016/j.athoracsur.2009.01.016.
79. Heur M., Costin B., Crowe S. et al. The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome. Am J Ophthalmol. 2008; 145(6): 997–1001. doi: 10.1016/j.ajo.2008.01.028.
80. Hilhorst-Hofstee Y., Rijlaarsdam M.E., Scholte A.J. et al. The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Hum Mutat. 2010; 31(12): E1915–27. doi: 10.1002/humu.21372.
81. Hiratzka L.F., Bakris G.L., Beckman J.A. et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. 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; 55(14): e27–e129. doi: 10.1016/j.jacc.2010.02.015.
82. Hirst A.E., Gore I. Editorial: Is cystic medionecrosis the cause of dissecting aortic aneurysm? Circulation. 1976; 53(6): 915–16. doi: 10.1161/01.cir.53.6.915.
83. Januzzi J.L., Isselbacher E.M., Fattori R. et al. Characterizing the young patient with aortic dissection: results from the International Registry of Aortic Dissection (IRAD). J Am Coll Cardiol. 2004; 43(4): 665–69. doi: 10.1016/j.jacc.2003.08.054.
84. Jeremy R.W., Huang H., Hwa J. et al. Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome. Am J Cardiol. 1994; 74(4): 369–73. doi: 10.1016/0002-9149(94)90405-7.
85. Jondeau G., Boutouyrie P., Lacolley P. et al. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Circulation. 1999; 99(20): 2677–81. doi: 10.1161/01.cir.99.20.2677.
86. Judge D.P., Biery N.J., Keene D.R. et al. Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest. 2004; 114(2): 172–81. doi: 10.1172/JCI20641.
87. Judge D.P., Dietz H.C. Marfan’s syndrome. Lancet. 2005; 366(9501): 1965–76. doi: 10.1016/S0140-6736(05)67789-6.
88. Kahana M., Feinstein A., Tabachnic E. et al. 1987. Painful piezogenic pedal papules in patients with Ehlers-Danlos syndrome. J Am Acad Dermatol. 1987; 17(2 Pt 1): 205–09. doi: 10.1016/s0190-9622(87)70192-3.
89. Kajii T., Jondeau G., Ohta T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004; 36(8): 855–60. doi: 10.1038/ng1392.
90. Kalkat M.S., Edwards M.B., Taylor K.M. et al. Composite aortic valve graft replacement: mortality outcomes in a national registry. Circulation. 2007; 116(11 Suppl): I301–6. doi: 10.1161/CIRCULATIONAHA.106.681437.
91. Kallenbach K., Karck M., Pak D. et al. Decade of aortic valve sparing reimplantation: are we pushing the limits too far? Circulation. 2005; 112(9 Suppl): I253–9. doi: 10.1161/01.CIRCULATIONAHA.104.525907.
92. Karck M., Kallenbach K., Hagl C. et al. Aortic root surgery in Marfan syndrome: Comparison of aortic valve-sparing reimplantation versus composite grafting. J Thorac Cardiovasc Surg. 2004; 127(2): 391–98. doi: 10.1016/j.jtcvs.2003.07.049.
93. Kelly R.E. Jr., Mellins R.B., Shamberger R.C. et al. Multicenter study of pectus excavatum, final report: complications, static/exercise pulmonary function, and anatomic outcomes. J Am Coll Surg. 2013; 217(6): 1080–89. doi: 10.1016/j.jamcollsurg.2013.06.019.
94. Kosaki K., Takahashi D., Udaka T. et al. Molecular pathology of Shprintzen–Goldberg syndrome. Am J Med Genet A. 2006; 140(1): 104–08; author reply 109-10. doi: 10.1002/ajmg.a.31006.
95. Kozanoglu E., Coskun Benlidayi I., Akilli R. et al. Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome? Clin Rheumatol. 2016; 35(4): 1041–44. doi: 10.1007/s10067-015-3024-9.
96. Kunkala M.R., Schaff H.V., Li Z. et al. Mitral valve disease in patients with Marfan syndrome undergoing aortic root replacement. Circulation. 2013; 128(11 Suppl 1): S243–47. doi: 10.1161/CIRCULATIONAHA.112.000113.
97. Kyndt F., Schott J.J., Trochu J.N. et al. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet. 1998; 62(3): 627–32. doi: 10.1086/301747.
98. Lacro R.V., Dietz H.C., Sleeper L.A. et al. Atenolol versus losartan in children and young adults with Marfan’s syndrome. N Engl J Med. 2014; 371(22): 2061–71. doi: 10.1056/NEJMoa1404731.
99. Lacro R.V., Dietz H.C., Wruck L.M. et al. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J. 2007; 154(4): 624–31. doi: 10.1016/j.ahj.2007.06.024.
100. Lin F.Y., Devereux R.B., Roman M.J. 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(5): 298–308. doi: 10.1016/j.jcct.2008.08.002.
101. Lindsey J.M., Michelson J.D., MacWilliams B.A. et al. The foot in Marfan syndrome: clinical findings and weight-distribution patterns. J Pediatr Orthop. 1998; 18(6): 755–59.
102. Loeys B., De Backer J., Van Acker P. et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat. 2004; 24(2):140–46. doi: 10.1002/humu.20070.
103. Loeys B.L., Dietz H.C. Loeys–Dietz Syndrome. 2008 Feb 28 [Updated 2018 Mar 1]. In: Adam M.P., Ardinger H.H., Pagon R.A. et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.
104. Loeys B., Nuytinck L., Delvaux I. et al. 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; 161(20): 2447–54. doi: 10.1001/archinte.161.20.2447.
105. Loeys B.L., Chen J., Neptune E.R. et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005; 37(3): 275–81. doi: 10.1038/ng1511.
106. Loeys B.L., Dietz H.C., Braverman A.C. et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47(7): 476–85. doi: 10.1136/jmg.2009.072785.
107. Loeys B.L., Schwarze U., Holm T. et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006; 355(8): 788–98. doi: 10.1056/NEJMoa055695.
108. Loscalzo M.L., Goh D.L., Loeys B. et al. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A. 2007; 143A(17): 1960–67. doi: 10.1002/ajmg.a.31872.
109. Malfait F., Francomano C., Byers P. et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017; 175(1): 8–26. doi: 10.1002/ajmg.c.31552.
110. Malfait F., Symoens S., Coucke P. et al. Total absence of the alpha2 (I) chain of collagen type I causes a rare form of Ehlers–Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet. 2006; 43(7):e36. doi: 10.1136/jmg.2005.038224.
111. Malfait F., Symoens S., De Backer J. et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers–Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007; 28(4): 387–95. doi: 10.1002/humu.20455.
112. Marfan A.B. Un cas de deformation congenitale des quatre membres plus prononcee aux extremites characterisee par l’allongment des os avec un certain degre d’amincissement. Bull Mem Soc Med Hop Paris. 1896; 13: 220–21.
113. Maron B.J., Chaitman B.R., Ackerman M.J. et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004; 109(22):2807–16. doi: 10.1161/01.CIR.0000128363.85581.E1.
114. Martin L.J., Ramachandran V., Cripe L.H. et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet. 2007; 121(2): 275–84. doi: 10.1007/s00439-006-0316-9.
115. McKusick V.A. Heritable disorders of connective tissue. St Louis: C.V. Mosby Co. 1956.
116. McKusick V.A. The cardiovascular aspects of Marfan’s syndrome: a heritable disorder of connective tissue. Circulation. 1955; 11(3): 321–42. doi: 10.1161/01.cir.11.3.321.
117. McDonnell N.B., Gorman B.L., Mandel K.W. et al. Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes. Am J Med Genet A. 2006; 140(2): 129–36. doi: 10.1002/ajmg.a.31035.
118. McKay M.J., Baldwin J.N., Ferreira P. et al. 1000 Norms Project: protocol of a cross-sectional study cataloging human variation. Physiotherapy. 2016; 102(1): 50–56. doi: 10.1016/j.physio.2014.12.002.
119. McLoughlin D., McGuinness J., Byrne J. et al. Pravastatin reduces Marfan aortic dilation. Circulation. 2011; 124(11 Suppl): S168–73. doi: 10.1161/CIRCULATIONAHA.110.012187.
120. Mehta R.H., O’Gara P.T., Bossone E. et al. Acute type A aortic dissection in the elderly: clinical characteristics, management, and outcomes in the current era. J Am Coll Cardiol. 2002; 40(4): 685–92. doi: 10.1016/s0735-1097(02)02005-3.
121. Meijboom L.J., Nollen G.J., Merchant N. et al. Frequency of coronary ostial aneurysms after aortic root surgery in patients with the Marfan syndrome. Am J Cardiol. 2002; 89(9): 1135–38. doi: 10.1016/s0002-9149(02)02290-7.
122. Merlocco A., Lacro R.V., Gauvreau K. et al. Longitudinal changes in segmental aortic stiffness determined by cardiac magnetic resonance in children and young adults with connective tissue disorders (the Marfan, Loeys–Dietz, and Ehlers–Danlos Syndromes, and nonspecific connective tissue disorders). Am J Cardiol. 2017; 120(7): 1214–19. doi: 10.1016/j.amjcard.2017.06.064.
123. Coady M.A., Ikonomidis J.S., Cheung A.T. et al. Surgical management of descending thoracic aortic disease: open and endovascular approaches: a scientific statement from the American Heart Association. Circulation. 2010; 121(25): 2780–804. doi: 10.1161/CIR.0b013e3181e4d033.
124. Milewicz D.M., Dietz H.C., Miller D.C. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005; 111(11): e150–57. doi: 10.1161/01.CIR.0000155243.70456.F4.
125. Milewicz D.M., Michael K., Fisher N. et al. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation. 1996; 94(11): 2708–11. doi: 10.1161/01.cir.94.11.2708.
126. Milleron O., Arnoult F., Ropers J. et al. Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Eur Heart J. 2015; 36(32): 2160–66. doi: 10.1093/eurheartj/ehv151.
127. Mizuguchi T., Collod-Beroud G,. Akiyama T. et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004; 36(8): 855–60. doi: 10.1038/ng1392.
128. Movahed M.R., Hepner A.D., Ahmadi-Kashani M. et al. Echocardiographic prevalence of bicuspid aortic valve in the population. Heart Lung Circ. 2006; 15(5): 297–99. doi: 10.1016/j.hlc.2006.06.001.
129. Mulvey M.R., Macfarlane G.J., Beasley M. et al. Modest association of joint hypermobility with disabling and limiting musculoskeletal pain: Results from a largescale general population-based survey. Arthritis Care Res (Hoboken). 2013; 65(8): 1325–33. doi: 10.1002/acr.21979.
130. Nishimura R.A., Otto C.M., Bonow R.O. et al. 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. Am Coll Cardiol. 2014; 63(22): 2438–88. doi: 10.1016/j.jacc.2014.02.537.
131. Nkomo V.T., Enriquez-Sarano M., Ammash N.M. et al. Bicuspid aortic valve associated with aortic dilatation: a community-based study. Arterioscler Thromb Vasc Biol. 2003; 23(2): 351–56. doi: 10.1161/01.atv.0000055441.28842.0a.
132. Oosterhof T., Groenink M., Hulsmans F.J. et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology. 2001; 220(2): 514–18. doi: 10.1148/radiology.220.2.r01au08514.
133. Pepin M., Schwarze U., Superti-Furga A., Byers P.H. Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type. 2000; 342(10): 673–80. doi: 10.1056/NEJM200003093421001.
134. Pereira L., Levran O., Ramirez F. et al. A molecular approach to the stratification of cardiovascular risk in families with Marfan’s syndrome. N Engl J Med. 1994; 331(3): 148–53. doi: 10.1056/NEJM199407213310302.
135. Poppe H., Hamm H. Piezogenic papules in Ehlers–Danlos syndrome. J Pediatr. 2013; 163(6): 1788. doi: 10.1016/j.jpeds.2013.07.035.
136. Putnam E.A., Cho M., Zinn A.B. et al. Delineation of the Marfan phenotype associated with mutations in exons 23–32 of the FBN1 gene. Am J Med Genet. 1996; 62(3): 233–42. doi: 10.1002/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U.
137. Putnam E.A., Zhang H., Ramirez F. et al. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet. 1995; 11(4): 456–58. doi: 10.1038/ng1295-456.
138. Pyeritz R.E., Loeys B. The 8th international research symposium on the Marfan syndrome and related conditions. Am J Med Genet A. 2012; 158A(1): 42–49. doi: 10.1002/ajmg.a.34386.
139. Pyeritz R.E., Fishman E.K., Bernhardt B.A. et al. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet. 1988; 43(5): 726–32.
140. Radonic T., de Witte P., Groenink M. et al. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Clin Genet. 2011; 80(4): 346–53. doi: 10.1111/j.1399-0004.2011.01646.x.
141. Ramirez F., Godfrey M., Lee B. et al. Marfan syndrome and related disorders. In: The Metabolic and Molecular Basis of Inherited Disease. Scriver C.R., Beaudet A.L., Sly W.S. et al. (Eds). McGraw Hill, New York. 1995; p. 4079.
142. Pyeritz R.E., American College of Medical Genetics and Genomics. Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med. 2012; 14(1): 171–77. doi: 10.1038/gim.2011.48.
143. Reeves S.L., Varakamin C., Henry C.J. The relationship between arm-span measurement and height with special reference to gender and ethnicity. Eur J Clin Nutr. 1996; 50(6): 398–400.
144. Regitz-Zagrosek V., Roos-Hesselink W.J., Bauersachs J. et al. 2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018; 39(34): 3165–241. doi: 10.1093/eurheartj/ehy340.
145. Reinhardt D.P., Keene D.R., Corson G.M. et al. Fibrillin-1: organization in microfibrils and structural properties. J Mol Biol. 1996; 258(1): 104–16. doi: 10.1006/jmbi.1996.0237.
146. Remvig L., Duhn P.H., Ullman S. et al. Skin extensibility and consistency in patients with Ehlers–Danlos syndrome and benign joint hypermobility syndrome. Scand J Rheumatol. 2009; 38(3): 227–30. doi: 10.1080/03009740802520714.
147. Remvig L., Jensen D.V., Ward R.C. Are diagnostic criteria for general joint hypermobility and benign joint hypermobility syndrome based on reproducible and valid tests? A review of the literature. J Rheumatol. 2007; 34(4): 798–803.
148. Rios A.S., Silber E.N., Bavishi N. et al. Effect of long-term beta-blockade on aortic root compliance in patients with Marfan syndrome. Am Heart J. 1999; 137(6): 1057–61. doi: 10.1016/s0002-8703(99)70362-5.
149. Ritelli M., Dordoni C., Venturini M. et al. Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013; 8: 58. doi: 10.1186/1750-1172-8-58.
150. Robinson P.N., Neumann L.M., Tinschert S. Response to Kosaki et al «Molecular pathology of Shprintzen–Goldberg syndrome». Am J Med Genet. 2006; 140A: 109–10.
151. Rohrbach M.S.H., Porter L.F., Burkitt-Wright E.M. et al. ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab. 2013; 109(3): 289–95. doi: 10.1016/j.ymgme.2013.04.014.
152. Roman M.J., Devereux R.B., Kramer-Fox R. et al. Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome. Am J Cardiol. 1989; 63(5): 317–21. doi: 10.1016/0002-9149(89)90338-x.
153. Roman M.J., Devereux R.B., Kramer-Fox R., O’Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol. 1989; 64(8): 507–12. doi: 10.1016/0002-9149(89)90430-x.
154. Rossi-Foulkes R., Roman M.J., Rosen S.E. et al. Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome. Am J Cardiol. 1999; 83(9): 1364–68. doi: 10.1016/s0002-9149(99)00101-0.
155. Rossiter J.P., Repke J.T., Morales A.J. et al. A prospective longitudinal evaluation of pregnancy in the Marfan syndrome. Am J Obstet Gynecol. 1995; 173(5): 1599–606. doi: 10.1016/0002-9378(95)90655-x.
156. Rybczynski M., Bernhardt A.M., Rehder U. et al. The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. Am J Med Genet A. 2008; 146A(24): 3157–66. doi: 10.1002/ajmg.a.32595.
157. Rybczynski M., Mir T.S., Sheikhzadeh S. et al. Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol. 2010; 106(7): 1048–53. doi: 10.1016/j.amjcard.2010.05.038.
158. Sakai L.Y., Keene D.R., Glanville R.W. et al. Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem. 1991; 266(22): 14763–70.
159. Schalkwijk J., Zweers M.C., Steijlen P.M. et al. A recessive form of the Ehlers–Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001; 345(16): 1167–75. doi: 10.1056/NEJMoa002939.
160. Schlatmann T.J., Becker A.E. Histologic changes in the normal aging aorta: implications for dissecting aortic aneurysm. Am J Cardiol. 1977; 39(1): 13–20. doi: 10.1016/s0002-9149(77)80004-0.
161. Schlatmann T.J., Becker A.E. Pathogenesis of dissecting aneurysm of aorta. Comparative histopathologic study of significance of medial changes. Am J Cardiol. 1977; 39(1): 21–26. doi: 10.1016/s0002-9149(77)80005-2.
162. Schwarze U., Hata R., McKusick V.A. et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004; 74(5): 917–30. doi: 10.1086/420794.
163. Selamet Tierney E.S., Feingold B., Printz B.F. et al. Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome. J Pediatr. 2007; 150(1): 77–82. doi: 10.1016/j.jpeds.2006.09.003.
164. Shores J., Berger K.R., Murphy E.A., Pyeritz R.E. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan’s syndrome. N Engl J Med. 1994; 330(19): 1335–41. doi: 10.1056/NEJM199405123301902.
165. Silverman D.I., Burton K.J., Gray J. et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995; 75(2): 157–60. doi: 10.1016/s0002-9149(00)80066-1.
166. Silverman D.I., Gray J., Roman M.J. et al. Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival. J Am Coll Cardiol. 1995; 26(4): 1062–67. doi: 10.1016/0735-1097(95)00258-0.
167. Singh K.K., Rommel K., Mishra A. et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys–Dietz syndrome. Hum Mutat. 2006; 27(8): 770–77. doi: 10.1002/humu.20354.
168. Sinha S., Nevett C., Shuttleworth C.A., Kielty C.M. Cellular and extracellular biology of the latent transforming growth factor-beta binding proteins. Matrix Biol. 1998; 17(8–9): 529–45. doi: 10.1016/s0945-053x(98)90106-8.
169. Sirko-Osadsa D.A., Murray M.A., Scott J.A. et al. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2 (XI) chain of type XI collagen. J Pediatr. 1998; 132(2): 368–71. doi: 10.1016/s0022-3476(98)70466-4.
170. Smallridge R.S., Whiteman P., Doering K. et al. EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1. J Mol Biol. 1999; 286(3): 661–68. doi: 10.1006/jmbi.1998.2536.
171. Smits-Engelsman B., Klerks M., Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011; 158(1): 119–23, 123.e1–4. doi: 10.1016/j.jpeds.2010.07.021.
172. Sood S., Eldadah Z.A., Krause W.L. et al. Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen–Goldberg) syndrome. Nat Genet. 1996; 12(2): 209–11. doi: 10.1038/ng0296-209.
173. Soucie J.M., Wang C., Forsyth A. et al. Range of motion measurements: reference values and a database for comparison studies. Haemophilia. 2011; 17(3): 500–07. doi: 10.1111/j.1365-2516.2010.02399.x.
174. Sponseller P.D., Hobbs W., Riley L.H. 3rd, Pyeritz R.E. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am. 1995; 77(6): 867–76. doi: 10.2106/00004623-199506000-00007.
175. Sponseller P.D., Jones K.B., Ahn N.U. et al. Protrusio acetabuli in Marfan syndrome: age-related prevalence and associated hip function. J Bone Joint Surg Am. 2006; 88(3): 486–95. doi: 10.2106/JBJS.E.00611.
176. Stheneur C., Collod-Beroud G., Faivre L. et al. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys–Dietz syndrome and related disorders. Hum Mutat. 2008; 29(11): E284–95. doi: 10.1002/humu.20871.
177. Svensson L.G., Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2002; 123(2): 360–61. doi: 10.1067/mtc.2002.118497.
178. Symoens S., Syx D., Malfait F. et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012; 33(10): 1485–93. doi: 10.1002/humu.22137.
179. Talhaoui I., Bui C., Oriol R. et al. Identification of key functional residues in the active site of human {beta}1, 4-galactosyltransferase 7: A major enzyme in the glycosaminoglycan synthesis pathway. J Biol Chem. 2010; 285(48): 37342–58. doi: 10.1074/jbc.M110.151951.
180. The Marfan Foundation. URL: https://www.marfan.org/resources/professionals
181. Treasure T., Petrou M., Rosendahl U. et al. Personalized external aortic root support: a review of the current status. Eur J Cardiothorac Surg. 2016; 50(3): 400–04. doi: 10.1093/ejcts/ezw078.
182. Treasure T., Takkenberg J.J., Golesworthy T. et al. Personalised external aortic root support (PEARS) in Marfan syndrome: analysis of 1-9 year outcomes by intention-to-treat in a cohort of the first 30 consecutive patients to receive a novel tissue and valve-conserving procedure, compared with the published results of aortic root replacement. Heart. 2014; 100(12): 969–75. doi: 10.1136/heartjnl-2013-304913.
183. Treasure T., Takkenberg J.J., Pepper J. Surgical management of aortic root disease in Marfan syndrome and other congenital disorders associated with aortic root aneurysms. Heart. 2014; 100(20): 1571–76. doi: 10.1136/heartjnl-2013-305132.
184. Trotter S.E., Olsen E.G. Marfan’s disease and Erdheim’s cystic medionecrosis. A study of their pathology. Eur Heart J. 1991; 12(1): 83–87. doi: 10.1093/oxfordjournals.eurheartj.a059830.
185. Tsipouras P., Del Mastro R., Sarfarazi M. et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med. 1992; 326(14): 905–09. doi: 10.1056/NEJM199204023261401.
186. Vahanian A., Alfieri O., Andreotti F. et al. Guidelines on the management of valvular heart disease (version 2012): The Joint Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology (ESC) and the European Association for Cardio-Thoracic Surgery (EACTS). Eur Heart J 2012; 33(19): 2451–96. doi: 10.1093/eurheartj/ehs109.
187. Vaughan C.J., Casey M., He J. et al. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001; 103(20): 2469–75. doi: 10.1161/01.cir.103.20.2469.
188. Villeirs G.M., Van Tongerloo A.J., Verstraete K.L. et al. Widening of the spinal canal and dural ectasia in Marfan’s syndrome: assessment by CT. Neuroradiology. 1999; 41(11): 850–54. doi: 10.1007/s002340050856.
189. Volguina I.V., Miller D.C., LeMaire S.A. et al. Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome. J Thorac Cardiovasc Surg. 2009; 137(5): 1124–32. doi: 10.1016/j.jtcvs.2009.03.023.
190. Weerakkody R.A., Vandrovcova J., Kanonidou C. et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers–Danlos syndrome. Genet Med. 2016; 18(11): 1119–27. doi: 10.1038/gim.2016.14.
191. Weigang E., Ghanem N., Chang X.C. et al. Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin Radiol. 2006; 61(11): 971–78. doi: 10.1016/j.crad.2006.05.015.
192. Weissman N.J., Pini R., Roman M.J. et al. In vivo mitral valve morphology and motion in mitral valve prolapse. Am J Cardiol. 1994; 73(15): 1080–88. doi: 10.1016/0002-9149(94)90287-9.
193. Wenstrup R.J., Murad S., Pinnell S.R. Ehlers–Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. J Pediatr. 1989; 115(3): 405–09. doi: 10.1016/s0022-3476(89)80839-x.
194. Wessels M.W., Catsman-Berrevoets C.E., Mancini G.M. et al. Three new families with arterial tortuosity syndrome. Am J Med Genet A. 2004; 131(2): 134–43. doi: 10.1002/ajmg.a.30272.
195. Wilkin D.J., Mortier G.R., Johnson C.L. et al. Correlation of linkage data with phenotype in eight families with Stickler syndrome. Am J Med Genet. 1998; 80(2): 121–27.
196. Williams A., Kenny D., Wilson D. et al. Effects of atenolol, perindopril and verapamil on haemodynamic and vascular function in Marfan syndrome – a randomised, double-blind, crossover trial. Eur J Clin Invest. 2012; 42(8): 891–99. doi: 10.1111/j.1365-2362.2012.02668.x.
197. Wright M.J., Dietz H.C. III. Connective tissue diseases. In: Oski’s Principles and Practice of Pediatrics. McMillan, J, Oski, F (Eds). Lippincott Raven, Philadelphia. 1999.
198. Yetman A.T., Bornemeier R.A., McCrindle B.W. Usefulness of enalapril versus propranolol or atenolol for prevention of aortic dilation in patients with the Marfan syndrome. Am J Cardiol. 2005; 95(9): 1125–27. doi: 10.1016/j.amjcard.2005.01.032.
199. Yin F.C.P., Brin K.P., Ting C.-T., Pyeritz R.E. Arterial hemodinamic indexes in Marfan’s syndrome. Circulation. 1989; 79(4): 854–62. doi: 10.1161/01.cir.79.4.854.
201. Zanotti G., Vricella L., Cameron D. Thoracic aortic aneurysm syndrome in children. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2008; 11–21. doi: 10.1053/j.pcsu.2008.01.005.
200. Zhang H., Hu W., Ramirez F. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol. 1995; 129(4): 1165–76. doi: 10.1083/jcb.129.4.1165.
201. Zhu L., Vranckx R., Khau Van Kien P. et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006; 38(3): 343–49. doi: 10.1038/ng1721.
202. Zoppi N., Chiarelli N., Cinquina V. et al. GLUT10 deficiency leads to oxidative stress and non-canonical alphavbeta3 integrin-mediated TGFbeta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Hum Mol Genet. 2015; 24(23): 6769–87. doi: 10.1093/hmg/ddv382.
203. Zou Y., Zwolanek D., Izu Y. et al. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014; 23(9): 2339–52. doi: 10.1093/hmg/ddt627.
