Hostname: page-component-78c5997874-s2hrs Total loading time: 0 Render date: 2024-11-20T05:01:30.281Z Has data issue: false hasContentIssue false

Aortic dissection and cystinosis: is there any relationship?

Published online by Cambridge University Press:  11 May 2017

Masih Tajdini*
Affiliation:
Tehran Heart Center and School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Mehdi Bayati
Affiliation:
Tehran Heart Center and School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
Ali Vasheghani-Farahani
Affiliation:
Tehran Heart Center and School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
*
Correspondence to: M. Tajdini, MD, Cardiology Resident, Tehran Heart Center, Tehran University of Medical Sciences, North Kargar Ave., Tehran 1411713138, Iran. Tel: +98 21 8802 9256; Fax: +98 21 8802 9702; E-mail: [email protected]

Abstract

Cystinosis is a rare, autosomal-recessive genetic disorder. The kidneys are commonly involved, as there is cystinosin protein malfunction, and nephropathic cystinosis ensues. Although cardiac and vascular involvements are rare, we describe a unique case of aortic dissection in a 25-year-old female with cystinosis. We discuss the possible aetiologies of aortic dissection in this condition.

Type
Brief Report
Copyright
© Cambridge University Press 2017 

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. Shotelersuk, V, Larson, D, Anikster, Y, et al. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 1998; 63: 13521362.Google Scholar
2. Nesterova, G, Gahl, WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 2013; 28: 5159.Google Scholar
3. Kaddourah, A, Uthup, S, Madueme, P, et al. Prevalence and predictors of aortic dilation as a novel cardiovascular complication in children with end-stage renal disease. Clin Nephrol 2015; 83: 262.Google Scholar
4. Edelman, M, Silverstein, D, Strom, J, Factor, SM. Cardiomyopathy in a male with cystinosis. Cardiovasc Pathol 1997; 6: 4347.CrossRefGoogle Scholar
5. Ueda, M, O’Brien, K, Rosing, DR, et al. Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 2006; 1: 555562.CrossRefGoogle ScholarPubMed
6. Fikar, CR. Acute aortic dissection in children and adolescents: diagnostic and after‐event follow‐up obligation to the patient and family. Clin Cardiol 2006; 29: 383386.Google Scholar
7. Groothoff, JW, Lilien, MR, van de Kar, NC, et al. Cardiovascular disease as a late complication of end-stage renal disease in children. Pediatr Nephrol 2005; 20: 374379.Google Scholar
8. Strayer, DS. Cystinosis and a dissecting aortic aneurysm in a 7-year-old boy. Am J Dis Child 1979; 133: 436438.Google Scholar
9. Golledge, J, Norman, PE. Current status of medical management for abdominal aortic aneurysm. Atherosclerosis 2011; 217: 5763.Google Scholar
10. Hagan, PG, Nienaber, CA, Isselbacher, EM, et al. The International Registry of Acute Aortic Dissection (IRAD): new insights into an old disease. JAMA 2000; 283: 897903.Google Scholar