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Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis
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| Zeitschriftentitel: | Journal of Internal Medicine |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , |
| In: | Journal of Internal Medicine, 249, 2001, 1, S. 103-108 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| author_facet |
Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. |
|---|---|
| author |
Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. |
| spellingShingle |
Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. Journal of Internal Medicine Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis Internal Medicine |
| author_sort |
nishiyama, y. |
| spelling |
Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. 0954-6820 1365-2796 Wiley Internal Medicine http://dx.doi.org/10.1046/j.1365-2796.2001.00761.x <jats:p><jats:bold>Abstract.</jats:bold> Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y (Nippon Medical School, Tokyo, and Chiba University School of Medicine, Chiba, Japan). Ehlers–Danlos syndrome type IV with a unique point mutation in <jats:italic>COL3 A1</jats:italic> and familial phenotype of myocardial infarction without organic coronary stenosis (Case Report). <jats:italic>J Intern Med</jats:italic> 2001; <jats:bold>249:</jats:bold> 103–108.</jats:p><jats:p>We report on a 43‐year‐old male patient with Ehlers–Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient’s family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the <jats:italic>COL3A1</jats:italic> gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.</jats:p> Ehlers–Danlos syndrome type IV with a unique point mutation in <i>COL3A1</i> and familial phenotype of myocardial infarction without organic coronary stenosis Journal of Internal Medicine |
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| title |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_unstemmed |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_full |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_fullStr |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_full_unstemmed |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_short |
Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_sort |
ehlers–danlos syndrome type iv with a unique point mutation in <i>col3a1</i> and familial phenotype of myocardial infarction without organic coronary stenosis |
| topic |
Internal Medicine |
| url |
http://dx.doi.org/10.1046/j.1365-2796.2001.00761.x |
| publishDate |
2001 |
| physical |
103-108 |
| description |
<jats:p><jats:bold>Abstract.</jats:bold> Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y (Nippon Medical School, Tokyo, and Chiba University School of Medicine, Chiba, Japan). Ehlers–Danlos syndrome type IV with a unique point mutation in <jats:italic>COL3 A1</jats:italic> and familial phenotype of myocardial infarction without organic coronary stenosis (Case Report). <jats:italic>J Intern Med</jats:italic> 2001; <jats:bold>249:</jats:bold> 103–108.</jats:p><jats:p>We report on a 43‐year‐old male patient with Ehlers–Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient’s family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the <jats:italic>COL3A1</jats:italic> gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.</jats:p> |
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| author | Nishiyama, Y., Nejima, J., Watanabe, A., Kotani, E., Sakai, N., Hatamochi, A., Shinkai, H., Kiuchi, K., Tamura, K., Shimada, T., Takano, T., Katayama, Y. |
| author_facet | Nishiyama, Y., Nejima, J., Watanabe, A., Kotani, E., Sakai, N., Hatamochi, A., Shinkai, H., Kiuchi, K., Tamura, K., Shimada, T., Takano, T., Katayama, Y., Nishiyama, Y., Nejima, J., Watanabe, A., Kotani, E., Sakai, N., Hatamochi, A., Shinkai, H., Kiuchi, K., Tamura, K., Shimada, T., Takano, T., Katayama, Y. |
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| description | <jats:p><jats:bold>Abstract.</jats:bold> Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y (Nippon Medical School, Tokyo, and Chiba University School of Medicine, Chiba, Japan). Ehlers–Danlos syndrome type IV with a unique point mutation in <jats:italic>COL3 A1</jats:italic> and familial phenotype of myocardial infarction without organic coronary stenosis (Case Report). <jats:italic>J Intern Med</jats:italic> 2001; <jats:bold>249:</jats:bold> 103–108.</jats:p><jats:p>We report on a 43‐year‐old male patient with Ehlers–Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient’s family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the <jats:italic>COL3A1</jats:italic> gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.</jats:p> |
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| imprint | Wiley, 2001 |
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| institution | DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1 |
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| spelling | Nishiyama, Y. Nejima, J. Watanabe, A. Kotani, E. Sakai, N. Hatamochi, A. Shinkai, H. Kiuchi, K. Tamura, K. Shimada, T. Takano, T. Katayama, Y. 0954-6820 1365-2796 Wiley Internal Medicine http://dx.doi.org/10.1046/j.1365-2796.2001.00761.x <jats:p><jats:bold>Abstract.</jats:bold> Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y (Nippon Medical School, Tokyo, and Chiba University School of Medicine, Chiba, Japan). Ehlers–Danlos syndrome type IV with a unique point mutation in <jats:italic>COL3 A1</jats:italic> and familial phenotype of myocardial infarction without organic coronary stenosis (Case Report). <jats:italic>J Intern Med</jats:italic> 2001; <jats:bold>249:</jats:bold> 103–108.</jats:p><jats:p>We report on a 43‐year‐old male patient with Ehlers–Danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient’s family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the <jats:italic>COL3A1</jats:italic> gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.</jats:p> Ehlers–Danlos syndrome type IV with a unique point mutation in <i>COL3A1</i> and familial phenotype of myocardial infarction without organic coronary stenosis Journal of Internal Medicine |
| spellingShingle | Nishiyama, Y., Nejima, J., Watanabe, A., Kotani, E., Sakai, N., Hatamochi, A., Shinkai, H., Kiuchi, K., Tamura, K., Shimada, T., Takano, T., Katayama, Y., Journal of Internal Medicine, Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis, Internal Medicine |
| title | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_full | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_fullStr | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_full_unstemmed | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_short | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_sort | ehlers–danlos syndrome type iv with a unique point mutation in <i>col3a1</i> and familial phenotype of myocardial infarction without organic coronary stenosis |
| title_unstemmed | Ehlers–Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis |
| topic | Internal Medicine |
| url | http://dx.doi.org/10.1046/j.1365-2796.2001.00761.x |