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A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X
journal contribution
posted on 2004-05-01, 00:00 authored by Anna PeetersAnna Peeters, M Kucharekova, J Timmermans, F W P J van den Berkmortel, G H J Boers, I R O Novakova, D Egging, M den Heijer, J SchalkwijkBackground: 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.
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 medicineVolume
62Issue
5Pagination
160 - 162Publisher
De Erven Bohn B.V.Location
Amsterdam, The NetherlandsISSN
0300-2977eISSN
1872-9061Language
EnglishPublication classification
C1.1 Refereed article in a scholarly journalCopyright notice
2004, Van Zuiden Communications B.V.Usage metrics
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