Deakin University
Browse

File(s) under permanent embargo

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

Version 2 2024-06-04, 06:23
Version 1 2019-07-18, 13:35
journal contribution
posted on 2024-06-04, 06:23 authored by Anna PeetersAnna Peeters, M Kucharekova, J Timmermans, FWPJ van den Berkmortel, GHJ Boers, IRO Novakova, D Egging, M den Heijer, J Schalkwijk
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.

History

Journal

Netherlands journal of medicine

Volume

62

Pagination

160-162

Location

Amsterdam, The Netherlands

ISSN

0300-2977

eISSN

1872-9061

Language

English

Publication classification

C1.1 Refereed article in a scholarly journal

Copyright notice

2004, Van Zuiden Communications B.V.

Issue

5

Publisher

De Erven Bohn B.V.

Usage metrics

    Research Publications

    Categories

    No categories selected

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC