Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome

P. I. Rossi; L. A. Scher; S. G. Friedman; M. H. Hall; R. A. Boxer; M. G. Bialer

doi:10.1016/S0741-5214(98)70331-3

Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome

P. I. Rossi, L. A. Scher, S. G. Friedman, M. H. Hall, R. A. Boxer, M. G. Bialer

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old-boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers- Danlos Syndrome are briefly reviewed.

Original language	English (US)
Pages (from-to)	549-551
Number of pages	3
Journal	Journal of Vascular Surgery
Volume	27
Issue number	3
DOIs	https://doi.org/10.1016/S0741-5214(98)70331-3
State	Published - 1998
Externally published	Yes

ASJC Scopus subject areas

Surgery
Cardiology and Cardiovascular Medicine

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abstract = "We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old-boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers- Danlos Syndrome are briefly reviewed.",

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AU - Rossi, P. I.

AU - Scher, L. A.

AU - Friedman, S. G.

AU - Hall, M. H.

AU - Boxer, R. A.

AU - Bialer, M. G.

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N2 - We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old-boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers- Danlos Syndrome are briefly reviewed.

AB - We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old-boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers- Danlos Syndrome are briefly reviewed.

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Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome

Abstract

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