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.
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-deficientpatients 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-deficientpatients. 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.
Authors: Russell A Norris; Brook Damon; Vladimir Mironov; Vladimir Kasyanov; Anand Ramamurthi; Ricardo Moreno-Rodriguez; Thomas Trusk; Jay D Potts; Richard L Goodwin; Jeff Davis; Stanley Hoffman; Xuejun Wen; Yukiko Sugi; Christine B Kern; Corey H Mjaatvedt; Debi K Turner; Toru Oka; Simon J Conway; Jeffery D Molkentin; Gabor Forgacs; Roger R Markwald Journal: J Cell Biochem Date: 2007-06-01 Impact factor: 4.429
Authors: Wuyan Chen; Mimi S Kim; Sujata Shanbhag; Andrew Arai; Carol VanRyzin; Nazli B McDonnell; Deborah P Merke Journal: Am J Med Genet A Date: 2009-12 Impact factor: 2.802
Authors: Deborah P Merke; Wuyan Chen; Rachel Morissette; Zhi Xu; Carol Van Ryzin; Vandana Sachdev; Hwaida Hannoush; Sujata M Shanbhag; Ana T Acevedo; Miki Nishitani; Andrew E Arai; Nazli B McDonnell Journal: J Clin Endocrinol Metab Date: 2013-01-02 Impact factor: 5.958
Authors: David F Egging; Ivonne van Vlijmen-Willems; Jiwon Choi; Anita C T M Peeters; Desiree van Rens; Guido Veit; Manuel Koch; Elaine C Davis; Joost Schalkwijk Journal: Cell Tissue Res Date: 2008-03-12 Impact factor: 5.249