Multiple Arterial Dissections and Connective Tissue Abnormalities
Background: Although patients with multiple arterial dissections in distinct arterial regions rarely present with known connective tissue syndromes, we hypothesized that mild connective tissue abnormalities are common findings in these patients. Methods: From a consecutive register of 322 patients w...
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MDPI AG
2022-06-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/12/3264 |
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| author | Philipp Erhart Daniel Körfer Susanne Dihlmann Jia-Lu Qiao Ingrid Hausser Peter Ringleb Jörg Männer Nicola Dikow Christian P. Schaaf Caspar Grond-Ginsbach Dittmar Böckler |
| author_facet | Philipp Erhart Daniel Körfer Susanne Dihlmann Jia-Lu Qiao Ingrid Hausser Peter Ringleb Jörg Männer Nicola Dikow Christian P. Schaaf Caspar Grond-Ginsbach Dittmar Böckler |
| author_sort | Philipp Erhart |
| collection | DOAJ |
| description | Background: Although patients with multiple arterial dissections in distinct arterial regions rarely present with known connective tissue syndromes, we hypothesized that mild connective tissue abnormalities are common findings in these patients. Methods: From a consecutive register of 322 patients with cervical artery dissection (CeAD), we identified and analyzed 4 patients with a history of additional dissections in other vascular beds. In three patients, dermal connective tissue was examined by electron microscopy. DNA from all four patients was studied by whole-exome sequencing and copy number variation (CNV) analysis. Results: The collagen fibers of dermal biopsies were pathologic in all three analyzed patients. One patient carried a CNV disrupting the <i>COL3A1</i> and <i>COL5A2</i> genes (vascular or hypermobility type of Ehlers–Danlos syndrome), and another patient a CNV in <i>MYH11</i> (familial thoracic aortic aneurysms and dissections). The third patient carried a missense substitution in <i>COL5A2</i>. Conclusion: Three patients showed morphologic alterations of the dermal connective tissue, and two patients carried pathogenic variants in genes associated with arterial connective tissue dysfunction. The findings suggest that genetic testing should be recommended after recurrent arterial dissections, independently of apparent phenotypical signs of connective tissue disorders. |
| first_indexed | 2024-03-09T23:29:29Z |
| format | Article |
| id | doaj.art-ab2034b731904b0091e1a7f24d9d4346 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T23:29:29Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-ab2034b731904b0091e1a7f24d9d43462023-11-23T17:13:05ZengMDPI AGJournal of Clinical Medicine2077-03832022-06-011112326410.3390/jcm11123264Multiple Arterial Dissections and Connective Tissue AbnormalitiesPhilipp Erhart0Daniel Körfer1Susanne Dihlmann2Jia-Lu Qiao3Ingrid Hausser4Peter Ringleb5Jörg Männer6Nicola Dikow7Christian P. Schaaf8Caspar Grond-Ginsbach9Dittmar Böckler10Department of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyDepartment of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyDepartment of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyDepartment of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyInstitute of Pathology, University Hospital of Heidelberg, 69120 Heidelberg, GermanyDepartment of Neurology, University Hospital of Heidelberg, 69120 Heidelberg, GermanyInstitute of Anatomy and Embryology, UMG, University of Göttingen, 37075 Göttingen, GermanyInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, GermanyInstitute of Human Genetics, Heidelberg University, 69120 Heidelberg, GermanyDepartment of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyDepartment of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, GermanyBackground: Although patients with multiple arterial dissections in distinct arterial regions rarely present with known connective tissue syndromes, we hypothesized that mild connective tissue abnormalities are common findings in these patients. Methods: From a consecutive register of 322 patients with cervical artery dissection (CeAD), we identified and analyzed 4 patients with a history of additional dissections in other vascular beds. In three patients, dermal connective tissue was examined by electron microscopy. DNA from all four patients was studied by whole-exome sequencing and copy number variation (CNV) analysis. Results: The collagen fibers of dermal biopsies were pathologic in all three analyzed patients. One patient carried a CNV disrupting the <i>COL3A1</i> and <i>COL5A2</i> genes (vascular or hypermobility type of Ehlers–Danlos syndrome), and another patient a CNV in <i>MYH11</i> (familial thoracic aortic aneurysms and dissections). The third patient carried a missense substitution in <i>COL5A2</i>. Conclusion: Three patients showed morphologic alterations of the dermal connective tissue, and two patients carried pathogenic variants in genes associated with arterial connective tissue dysfunction. The findings suggest that genetic testing should be recommended after recurrent arterial dissections, independently of apparent phenotypical signs of connective tissue disorders.https://www.mdpi.com/2077-0383/11/12/3264dissectioncarotid arterygeneticsconnective tissue diseaseMarfan syndromeEhlers–Danlos syndrome |
| spellingShingle | Philipp Erhart Daniel Körfer Susanne Dihlmann Jia-Lu Qiao Ingrid Hausser Peter Ringleb Jörg Männer Nicola Dikow Christian P. Schaaf Caspar Grond-Ginsbach Dittmar Böckler Multiple Arterial Dissections and Connective Tissue Abnormalities Journal of Clinical Medicine dissection carotid artery genetics connective tissue disease Marfan syndrome Ehlers–Danlos syndrome |
| title | Multiple Arterial Dissections and Connective Tissue Abnormalities |
| title_full | Multiple Arterial Dissections and Connective Tissue Abnormalities |
| title_fullStr | Multiple Arterial Dissections and Connective Tissue Abnormalities |
| title_full_unstemmed | Multiple Arterial Dissections and Connective Tissue Abnormalities |
| title_short | Multiple Arterial Dissections and Connective Tissue Abnormalities |
| title_sort | multiple arterial dissections and connective tissue abnormalities |
| topic | dissection carotid artery genetics connective tissue disease Marfan syndrome Ehlers–Danlos syndrome |
| url | https://www.mdpi.com/2077-0383/11/12/3264 |
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