Document Detail

A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X.
MedLine Citation:
PMID:  15366699     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: We recently described a new autosomal recessive type of Ehlers-Danlos syndrome (EDS) based on a deficiency of the extracellular matrix protein tenascin-X (TNX). TNX-deficient patients have hypermobile joints, hyperextensible skin and show easy bruising. Because of the reported cardiovascular abnormalities in other EDS types and the excessive haematoma formation after mild trauma in TNX-deficient individuals, we investigated whether cardiovascular or coagulation abnormalities occur in these patients. METHODS: We examined seven TNX-deficient patients. One of them had a mitral valve prolapse and died postoperatively after valve replacement, before the study was completed. RESULTS: Bleeding time and coagulation factors (INR, APTT, PT and fibrinogen) were all within the normal range. Ultrasonographic examination of the carotid and femoral arteries showed normal vessel wall compliance and distensibility. Echocardiography showed a slight billowing of the mitral valve in two patients from one family. All patients had normal diameters of aortic root and ascending aorta. CONCLUSION: Although the patient group is small, there are no indications of generalised cardiovascular abnormalities in this type of EDS. We would recommend echocardiography for all these patients at the first evaluation and when a cardiac murmur appears.
A C T M Peeters; M Kucharekova; J Timmermans; F W P J van den Berkmortel; G H J Boers; I R O Nováková; D Egging; M den Heijer; J Schalkwijk
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Netherlands journal of medicine     Volume:  62     ISSN:  0300-2977     ISO Abbreviation:  Neth J Med     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-09-15     Completed Date:  2004-09-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0356133     Medline TA:  Neth J Med     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  160-2     Citation Subset:  IM    
University Medical Centre St Radboud, Nijmegen, The Netherlands.
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MeSH Terms
Ehlers-Danlos Syndrome / complications,  diagnosis*,  genetics,  metabolism
Mitral Valve Prolapse / complications,  ultrasonography
Tenascin / deficiency*
Reg. No./Substance:
0/Tenascin; 0/tenascin X

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