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Abstract
A 30 year old woman with marked joint hypermobility had severe, progressive lung disease,
seizures, aneurysms of the sinuses of Valsalva and myocardial infarction documented
during life. She died of intractable ventricular fibrillation, and postmortem examination
showed myocardial injury in the distribution of the left coronary artery but no occlusive
coronary artery disease. Severe panacinar emphysema was found in the lungs. Cerebral
heterotopias with peculiar vascularization were present and were a likely cause of
the seizure disorder. Electron microscopy showed dermal collagen fibrils to be heterogeneous
in size, reduced in number, and irregular and frayed in appearance. This patient had
a form of the Ehlers-Danlos syndrome, different from the 10 distinct variants described
thus far, associated with lethal internal manifestations.
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References
- Heritable disorders of connective tissue: Ehlers-Danlos syndrome.Pediatr Clin North Am. 1978; 25: 575-592
- Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V.Connect Tissue Res. 1975; 3: 49-53
- Procollagen peptidase deficiency in a form of the Ehlers-Danlos syndrome.Trans Assoc Am Phys. 1973; 86: 333-339
- A heritable disorder of connective tissue: hydroxylysine-deficient collagen disease.N Engl J Med. 1972; 286: 1013-1020
Hollister DW, Byers PH, Holbrook KA: The Ehlers-Danlos syndromes. In, Harris H, Hirschhorn K, eds: Advances in human genetics. New York: Plenum Press (in press).
- Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.Helv Paediat Acta. 1975; 30: 255-274
- Morphological observations in connective tissue from individuals with procollagen peptidase deficiency (Ehlers-Danlos type VII syndrome) (abstr).Am J Hum Genet. 1973; 25: 86A
- Ultrastructural studies of skin from a patient with a new type of Ehlers-Danlos syndrome (EDS) characterized by a structural mutation of procollagen (abstr).J Cutan Pathol. 1980; 7: 177
- X-linked cutis laxa. Defective cross-link formation in collagen due to decreased lysyl oxidase activity.N Engl J Med. 1980; 303: 61-65
- A new form of Ehlers-Danlos syndrome: fibronectin corrects defective platelet function.JAMA. 1980; 244: 144-147
- Patients with Ehlers-Danlos syndrome type IV lack type III collagen.in: 4th ed. Proc Natl Acad Sci USA. 72. 1975: 1314-1316
- Heritable disorders of connective tissue.4th ed. C.V. Mosby, St. Louis1972
- Lethal complications of the Ehlers-Danlos syndrome.Br Med J. 1968; 3: 656-658
- The Ehlers-Danlos syndrome.Heinemann Medical Books, London1970
- Ehlers-Danlos syndrome with a sinus of Valsalva aneurysm and aortic insufficiency simulating rheumatic heart disease.Am J Med. 1963; 35: 715-720
Pyeritz RE: Cardiovascular manifestations of heritable disorders of connective tissue. In, Motulsky AG, Childs B, eds: Progress in medical genetics. Philadelphia: W.B. Saunders (in press).
- Aortic sinus of Valsalva aneurysms simulating primary right-sided valvular heart disease.Circulation. 1975; 52: 696-699
- Progressive pulmonary emphysema associated with congenital generalized elastolysis (cutis laxa).Radiology. 1974; 113: 691-692
- Elastic tissue in pulmonary emphysema in Marfan syndrome.Arch Pathol. 1973; 96: 427-431
- Molecular abnormalities of collagen.J Clin Pathol. 1978; 12 (Royal Coll Pathol): 95-104
- Ehlers-Danlos syndrome. Pathologic, histochemical, and electron microscopic observations.Arch Pathol. 1965; 77: 613-619
- Abnormal collagen fibril structure in the gravis form (Type I) of Ehlers-Danlos syndrome.Lab Invest. 1979; 40: 201-206
- Ehlers-Danlos syndrome: eine Fibroblasten-und Kollagenkrankheit: Typisiering und elektronenmikroskopische Befunde bei fünf Kranken.Arch Dermatol Res. 1980; 267: 237-251
- The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin.Br J Dermatol. 1980; 102: 85-96
- Clinical and ultrastructural heterogeneity of Type IV Ehlers-Danlos syndrome.Hum Genet. 1979; 47: 141-150
- Collagen structure: evidence for a helical organization of the collagen fibril.J Ultrastrucl Res. 1977; 58: 134-143
- Ultrastructural changes in the architecture of collagen in the human cervix treated with urea.Am J Pathol. 1980; 99: 528-538
- The effect of proteoglycans on the formation of fibrils from collagen solutions.Arch Biochem Biophys. 1975; 170: 698-709
- Collagen metabolism: a comparison of diseases of collagen and diseases affecting collagen.Am J Pathol. 1980; 98: 227-280
- Familial joint instability syndrome.Am J Med Genet. 1980; 6: 221-228
- Cross-linking of collagens in the x-linked Ehlers-Danlos type V.Biochem Biophys Res Comm. 1979; 88: 218-287
Article info
Publication history
Accepted:
July 20,
1981
Footnotes
☆This work was supported in part by National Institutes of Health Grants HL-17655 and HL-14153 from the National Heart, Lung and Blood Institute, RR 00722 from the Division of Research Resources, and the Stetler Research Fund for Women Physicians.
Identification
Copyright
© 1981 Published by Elsevier Inc.
