Hostname: page-component-76fb5796d-wq484 Total loading time: 0 Render date: 2024-04-27T04:07:43.762Z Has data issue: false hasContentIssue false
  • English
  • Français

Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis

Part of: Interventional Cardiology

Published online by Cambridge University Press:  11 May 2018

Katie E. O’ Sullivan ,
Alan P. Griffin  and
Ivan P. Casserly
Katie E. O’ Sullivan
Affiliation:
Department of Cardiothoracic Surgery, Mater Misericordiae University Hospital, Dublin, Ireland
Alan P. Griffin
Affiliation:
Department of Cardiothoracic Surgery, Mater Misericordiae University Hospital, Dublin, Ireland
Ivan P. Casserly*
Affiliation:
Department of Cardiology, Mater Misericordiae University Hospital, Dublin, Ireland
*
Author for correspondence: Professor I. P. Casserly, Department of Cardiology, Mater Misericordiae University Hospital, Eccles St., Dublin 7, Ireland. Tel: 8032353; Fax: 01 8034134; E-mail: icasserly@mater.ie
Get access Rights & Permissions [Opens in a new window]

Abstract

We present the case of transcatheter aortic valve replacement in a 20-year-old woman with severe bicuspid aortic stenosis and Schmike immuno-osseous dysplasia who was unfit for surgical aortic valve replacement. Meticulous pre-procedural planning and a multidisciplinary team approach can enable successful transcatheter aortic valve replacement in complex patients with genetic syndromes.

Keywords

Transcatheter aortic valve replacementbicuspid aortic valvetranscarotidinterventional (stents, etc.)
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 7 , July 2018 , pp. 974 - 977
Check for updates
Copyright
© Cambridge University Press 2018 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Morimoto, M, Yu, Z, Stenzel, P, et al. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis 2012; 7: 70.CrossRefGoogle Scholar
2. Morimoto, M, Baradaran-Heravi, A, Lucke, T, Boerkoel, CF. Schimke immunoosseous dysplasia. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al. (eds) GeneReviews(R). University of Washington, Seattle, WA, 2013.Google Scholar
3. Clewing, JM, Antalfy, BC, Lucke, T, et al. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet 2007; 44: 122–130.Google Scholar
4. Boerkoel, CF, Takashima, H, John, J, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet 2002; 30: 215–220.CrossRefGoogle ScholarPubMed
5. Ciccia, A, Bredemeyer, AL, Sowa, ME, et al. The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev 2009; 23: 2415–2425.CrossRefGoogle ScholarPubMed
6. Van Mieghem, NM, El Faquir, N, Rahhab, Z, et al. Incidence and predictors of debris embolizing to the brain during transcatheter aortic valve implantation. JACC Cardiovasc Interv 2015; 8: 718–724.CrossRefGoogle Scholar
7. Azmoun, A, Amabile, N, Ramadan, R, et al. Transcatheter aortic valve implantation through carotid artery access under local anaesthesia. Eur J Cardiothorac Surg 2014; 46: 693–698; discussion 8.Google Scholar
8. Castiglioni, A, Pozzoli, A, Maisano, F, Alfieri, O. Endocarditis after transfemoral aortic valve implantation in a patient with Osler-Weber-Rendu syndrome. Interact Cardiovasc Thorac Surg 2012; 15: 553–554.Google Scholar
9. Faria, R, Caeiro, D, Fontes de Carvalho, R, et al. Transcatheter aortic valve implantation in a very young patient. Rev Port Cardiol 2013; 32: 827–831.Google Scholar
10. Safarova, MS, Imaev, TE, Lorie, I, Saidova, MA, Ezhov, MV. Transcatheter treatment of degenerative critical aortic valve stenosis in a patient with severe heart failure and chronic lymphocytic leukemia. Kardiologiia. 2015; 55: 82–87.Google Scholar
11. Walther, T, Arsalan, M, Kim, W, Kempfert, J. TAVI: transapical – what else? EuroIntervention 2013; 9 (Suppl): S19–S24.Google Scholar
12. Arsalan, M, Mack, MJ. Durability of devices: long-term results and clinical outcomes. EuroIntervention 2015; 11 (Suppl W): W119–W122.Google Scholar
Supplementary material: Image

Sullivan et al. supplementary material

Sullivan et al. supplementary material 1

Download Sullivan et al. supplementary material(Image)
Image 525.3 KB
Supplementary material: Image

Sullivan et al. supplementary material

Sullivan et al. supplementary material 2

Download Sullivan et al. supplementary material(Image)
Image 320.6 KB
Supplementary material: Image

Sullivan et al. supplementary material

Sullivan et al. supplementary material 3

Download Sullivan et al. supplementary material(Image)
Image 368.3 KB