A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X

Netherlands Journal of Medicine

Volumn 62, Issue 5, 2004, Pages 160-162

  Peeters, A C T M ^a   Kucharekova, M ^a   Timmermans, J ^a   van den Berkmortel, F W P J ^a   Boers, G H J ^a   Novakova I R O ^a   Egging, D ^a   den Heijer, M ^a   Schalkwijk, J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR; FIBRINOGEN; PROTHROMBIN; SCLEROPROTEIN; TENASCIN X; THROMBOPLASTIN; UNCLASSIFIED DRUG;

AORTA ROOT; ARTERY COMPLIANCE; ARTERY DIAMETER; ARTICLE; ASCENDING AORTA; BLEEDING TIME; BLOOD CLOTTING TEST; CARDIOVASCULAR DISEASE; CAROTID ARTERY; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ECHOGRAPHY; EHLERS DANLOS SYNDROME; FEMORAL ARTERY; HEART MURMUR; HUMAN; INTERNATIONAL STANDARD UNIT; MITRAL VALVE PROLAPSE; MITRAL VALVE REPLACEMENT; PARTIAL THROMBOPLASTIN TIME; PROTEIN DEFICIENCY; PROTHROMBIN TIME; SURGICAL MORTALITY;

ECHOCARDIOGRAPHY; EHLERS-DANLOS SYNDROME; HUMANS; MITRAL VALVE PROLAPSE; TENASCIN;

EID: 4143074737     PISSN: 03002977     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Beighton P, Paepe A de, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 1998;77:31-7.
2. Schalkwijk J, Zweers MC, Steijlen PM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 2001;345:1167-75.
3. Burch GH, Gong Y, Liu W, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997;17:104-8.
4. Zweers MC, Vlijmen-Willems IM van, Kuppevelt TH van, et al. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. In press.
5. Leier CV, Call TD, Fulkerson PK, Wooley CF. The spectrum of cardiac defects in the Ehlers-Danlos syndrome, types I and III. Ann Intern Med 1980;92:171-8.
6. Dolan AL, Mishra MB, Chambers JB, Grahame R. Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. Br J Rheumatol 1997; 36:459-62.
7. Roman MJ, Devereux RB, Kramer-Fox R, O'Loughlin J. Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 1989;64:507-12.
8. Krivokapich J, Child JS, Dadourian BJ, Perloff JK. Reassessment of echocardiographic criteria for diagnosis of mitral valve prolapse. Am J Cardiol 1988;61:131-5.
9. Hoeks AP, Brands PJ, Smeets FA, Reneman RS. Assessment of the distensibility of superficial arteries. Ultrasound Med Biol 1990;16:121-8.
10. Reneman RS, Merode T van, Hick P, Hoeks AP. Cardiovascular applications of multi-gate pulsed Doppler systems. Ultrasound Med Biol 1986;12:357-70.
11. Berkmortel FW van den, Wollersheim H, Langen H van, Thien T. Dynamic vessel wall properties and their reproducibility in subjects with increased cardiovascular risk. J Hum Hypertens 1998;12:345-50.
12. Smilde TJ, Berkmortel FW van den, Boers GH, et al. Carotid and femoral artery wall thickness and stiffness in patients at risk for cardiovascular disease, with special emphasis on hyperhomocysteinemia. Arterioscler Thromb Vasc Biol 1998;18:1958-63.
13. Grahame R, Edwards JC, Pitcher D, Gabell A, Harvey W. A clinical and echocardiographic study of patients with the hypermobility syndrome. Ann Rheum Dis 1981;40:541-6.
14. Avierinos JF, Gersh BJ, Melton LJ III, et al. Natural history of asymptomatic mitral valve prolapse in the community. Circulation 2002;106:1355-61.
15. Freed LA, Levy D, Levine RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999;341:1-7.
16. Jaffe AS, Geltman EM, Rodey GE, Uitto J. Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen. Circulation 1981;64:121-5.
17. Tiller GE, Cassidy SB, Wensel C, Wenstrup RJ. Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III. A report of five cases. Clin Genet 1998;53:460-5.
18. Matsumoto K, Saga Y, Ikemura T, Sakakura T, Chiquet-Ehrismann R. The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C. J Cell Biol 1994;125:483-93.