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      Coil embolization of bilateral internal mammary artery aneurysms in the setting of a heterozygous missense variant of unknown significance in COL5A1 and fibromuscular dysplasia

      case-report

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          Abstract

          Internal mammary artery aneurysms are rare but serious clinical entities. Rupture results in hemothorax and can be life threatening. Most reported cases are pseudoaneurysms secondary to iatrogenic or traumatic causes. Noniatrogenic, nontraumatic, true internal mammary artery aneurysms have most commonly been associated with vasculitides or connective tissue disorders; rare cases have been deemed idiopathic. We describe a rare case of bilateral internal mammary artery aneurysms—successfully treated with coil embolization—in the setting of heterozygosity for a missense variant of unknown significance in the COL5A1 gene and multifocal fibrodysplastic changes on angiography.

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          Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

          Sanne D'hondt, Tim Van Damme, Fransiska Malfait (2017)
          Purpose Within the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among “nonvascular” EDS subtypes, we performed a systematic review. Methods We queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes. The outcome included the number and nature of vascular complications. Results A total of 112 papers were included and data were collected from 467 patients, of whom 77 presented with a vascular phenotype. Severe complications included mainly hematomas (53%), frequently reported in musculocontractural and classical-like EDS; intracranial hemorrhages (18%), with a high risk in dermatosparaxis EDS; and arterial dissections (16%), frequently reported in kyphoscoliotic and classical EDS. Other, more minor, vascular complications were reported in cardiac-valvular, arthrochalasia, spondylodysplastic, and periodontal EDS. Conclusion Potentially life-threatening vascular complications are a rare but important finding in several nonvascular EDS subtypes, highlighting a need for more systematic documentation. This review will help familiarize clinicians with the spectrum of vascular complications in EDS and guide follow-up and management.
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            Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.

            Stacey Poloskey, Esther Sh Kim, Ruchi M. Sanghani … (2012)
            Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified. Clinical characteristics were collected and genetic test results reviewed for abnormalities in the following genes: transforming growth factor-β receptor 1 and 2 (TGFβR1 and TGFβR2), collagen 3A1, fibrillin-1, smooth muscle α-actin 2, and SMAD3. A total of 63 patients (63/216; 29.2%) were referred for genetic counseling with testing performed in 35 (35/63; 55.6%). The percentage of patients with a history of arterial or aortic dissection, history of aortic aneurysm, systemic features of a connective tissue disorder, and a family history of sudden death was significantly larger in the group that underwent genetic testing (62.9% vs 18.2%, p T, p.Thr204lle and c.1285 T>C, p.Tyr429His). The yield of genetic testing for vascular connective tissue disorders was low in a high-risk subset of FMD patients. However, two patients with a similar phenotype had novel and distinct variants in the TGFβR1 gene, a finding which merits further investigation.
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              Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

              J. de Visscher, L Nuytinck, Jean M. Naeyaert … (1997)
              The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice studies suggest that collagen V is causally involved in human EDS. Collagen V forms heterotypic fibrils with collagen I in many tissues and plays an important role in collagen I fibrillogenesis. We have identified a mutation in COL5A1, the gene encoding the pro(alpha)1(V) collagen chain, segregating with EDS I in a four-generation family. The mutation causes the substitution of the most 5' cysteine residue by a serine within a highly conserved sequence of the pro(alpha)1(V) C-propeptide domain and causes reduction of collagen V by preventing incorporation of the mutant pro(alpha)1(V) chains in the collagen V trimers. In addition, we have detected splicing defects in the COL5A1 gene in a patient with EDS I and in a family with EDS II. These findings confirm the causal role of collagen V in at least a subgroup of EDS I, prove that EDS I and II are allelic conditions, and represent a, so far, unique example of a human collagen disorder caused by substitution of a highly conserved cysteine residue in the C-propeptide domain of a fibrillar collagen.
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                Author and article information

                Contributors
                Naiem Nassiri
                Journal
                Journal ID (nlm-ta): J Vasc Surg Cases Innov Tech
                Journal ID (iso-abbrev): J Vasc Surg Cases Innov Tech
                Title: Journal of Vascular Surgery Cases and Innovative Techniques
                Publisher: Elsevier
                ISSN (Electronic): 2468-4287
                Publication date PMC-release: 20 September 2019
                Publication date Collection: December 2019
                Publication date (Electronic): 20 September 2019
                Volume: 5
                Issue: 4
                Pages: 410-414
                Affiliations
                [a ]Division of Vascular and Endovascular Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn
                [b ]Division of Cardiac Surgery and The Yale Aortic Institute, Department of Surgery, Yale University School of Medicine, New Haven, Conn
                [c ]Department of Radiology and Biomedical Imaging, Yale University School of Medicine, New Haven, Conn
                Author notes
                [∗ ]Correspondence: Naiem Nassiri, MD, Associate Professor of Surgery (Vascular), Yale School of Medicine, Yale New Haven Hospital, Chief, Vascular & Endovascular Surgery, VA Connecticut Healthcare System, Boardman Bldg, 330 Cedar St, New Haven, CT 06510 naiem.nassiri@ 123456yale.edu
                Article
                Publisher ID: S2468-4287(19)30096-6
                DOI: 10.1016/j.jvscit.2019.07.002
                PMC ID: 6806644
                PubMed ID: 31660461
                SO-VID: 3252d87b-526e-4dcf-bc5f-01991c67047a
                Copyright © © 2019 The Author(s)
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 19 May 2019
                Date accepted : 11 July 2019
                Categories
                Subject: Case report

                Keywords: internal mammary artery aneurysm,coil embolization,fibromuscular dysplasia
                Data availability:
                Keywords: internal mammary artery aneurysm, coil embolization, fibromuscular dysplasia

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