Skip to main content

Advertisement

SpringerLink
Log in

Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography

  • Original Article
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract

Background

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder that initially affects the kidney progressing to multi-organ failure due to accumulation of cystine in all tissue compartments.

Objective

The main objective of this study is the evaluation of cardiac function in cystinosis patients using non-conventional echocardiographic modalities like pulsed wave tissue Doppler imaging (PW-TDI) and 2D speckle tracking echocardiography (2D-STE).

Methods

This is a case control study conducted on fifteen patients with cystinosis and 15 normal controls. Echocardiography was done for all participants and PW-TDI was performed for measurement of S′, E′, A′ velocities and myocardial performance index (MPI) at basal parts of septal, left ventricle (LV), and right ventricle (RV) free walls. 2D-STE was done for evaluation of global longitudinal strain (GLS), global circumferential strain (GCS), and global radial strain (GRS) of LV. Mitral E and A velocities and tricuspid annular plane systolic excursion (TAPSE) were also measured.

Results

The GLS, GRS, and S′ velocity at basal septum and LV lateral wall were significantly lower in patients denoting LV systolic dysfunction (p = 0.005, p < 0.0001, p = 0.001, p = 0.006, respectively), while E/E′ were significantly higher in patients group denoting LV diastolic dysfunction (p < 0.001). For RV function, TAPSE, S′, and E′ velocity were significantly lower in patients group (p 0.013, p < 0.01, p = 0.05, respectively) indicating RV systolic and diastolic dysfunction. The TDI-derived MPI for both LV and RV were significantly higher in patients group (p < 0.0001, p < 0.01, respectively) indicating both ventricular systolic and diastolic dysfunction. For prediction of cardiac dysfunction among patients, the receiver operating characteristic (ROC) curve showed that GRS ≤ 29% had sensitivity 93.3% and specificity 100%, GLS > − 20.1% had sensitivity 66.7% and specificity 93.3%, LV-E/E′ >7.87 had sensitivity 73.3% and specificity 93.3%, and MPI-LV > 0.36 had sensitivity 100% and specificity 93.3% while MPI-RV > 0.29 had sensitivity 80% and specificity 93.3% and TAPSE ≤ 19 mm had sensitivity 80% and specificity 73.3%.

Conclusions

Patients with cystinosis have significant both left and right ventricular dysfunction, which can be better evaluated using the non-conventional echocardiographic modalities like TDI and 2D-STE for early detection of subtle cardiac dysfunction.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis - medical progress. N Engl J Med 347:111–121

    Article  PubMed  Google Scholar 

  2. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E (2016) Cystinosis: a review. Orphanet J Rare Dis 11:47

    Article  PubMed  PubMed Central  Google Scholar 

  3. David D, Princiero Berlingerio S, Elmonem MA, Oliveira Arcolino F, Soliman N, van den Heuvel B et al (2019) Molecular basis of cystinosis: geographic distribution, functional consequences of mutations in the ctns gene, and potential for repair. Nephron 141:133–146

    Article  CAS  PubMed  Google Scholar 

  4. Soliman NA, El-Baroudy R, Rizk A, Bazaraa H, Younan A (2009) Nephropathic cystinosis in children: an overlooked disease. Saudi J Kidney Dis Transpl 20:436–442

    PubMed  Google Scholar 

  5. Wilmer MJ, Schoeber JP, Van Den Heuvel LP, Levtchenko EN (2011) Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol 26:205–215. https://doi.org/10.1007/s00467-010-1627-6

    Article  PubMed  Google Scholar 

  6. Nesterova G, Gahl W (2008) Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol 23:863–878. https://doi.org/10.1007/s00467-007-0650-8

    Article  PubMed  Google Scholar 

  7. Dixit MP, Greifer I (2002) Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinicalfollow-up. BMC Nephrol 3:1–4. https://doi.org/10.1186/1471-2369-3-8

    Article  Google Scholar 

  8. Shroff R, Dégi A, Kerti A, Kis É, Cseprekál O, Tory K et al (2013) Cardiovascular risk assessment in children with chronic kidney disease. Pediatr Nephrol 28:875–884. https://doi.org/10.1007/s00467-012-2325-3

    Article  PubMed  Google Scholar 

  9. Agha H, Shalaby L, Attia W, Abdelmohsen G, Aziz OA, Rahman MYA (2015) Early ventricular dysfunction after anthracycline chemotherapy in children. Pediatr Cardiol. https://doi.org/10.1007/s00246-015-1311-5

  10. Geyer H, Caracciolo G, Abe H, Wilansky S, Carerj S, Gentile F et al (2010) Assessment of myocardial mechanics using speckle tracking echocardiography: fundamentals and clinical applications. J Am Soc Echocardiogr 23:351–369. https://doi.org/10.1016/j.echo.2010.02.015

    Article  PubMed  Google Scholar 

  11. Teske AJ, De Boeck BWL, Melman PG, Sieswerda GT, Doevendans PA, Cramer MJM (2007) Echocardiographic quantification of myocardial function using tissue deformation imaging, a guide to image acquisition and analysis using tissue Doppler and speckle tracking. Cardiovasc Ultrasound 5:27. https://doi.org/10.1186/1476-7120-5-27

    Article  PubMed  PubMed Central  Google Scholar 

  12. Blessberger H, Binder T (2010) NON-invasive imaging: two dimensional speckle tracking echocardiography: basic principles. Heart 96:716–722. https://doi.org/10.1136/hrt.2007.141002

    Article  PubMed  Google Scholar 

  13. Edelman M, Silverstein D, Strom J, Factor SM (1997) Cardiomyopathy in a male with cystinosis. Cardiovasc Pathol 6:43–47. https://doi.org/10.1016/S1054-8807(96)00047-6

    Article  CAS  PubMed  Google Scholar 

  14. Sengupta PP, Tajik AJ, Chandrasekaran K, Khandheria BK (2008) Twist mechanics of the left ventricle. Principles and application. JACC Cardiovasc Imaging 1:366–376. https://doi.org/10.1016/j.jcmg.2008.02.006

    Article  PubMed  Google Scholar 

  15. Agha HM, Ibrahim H, El Satar IA, El Rahman NA, El Aziz DA, Salah Z et al (2017) Forgotten right ventricle in pediatric dilated cardiomyopathy. Pediatr Cardiol 38:819–827. https://doi.org/10.1007/s00246-017-1588-7

    Article  PubMed  Google Scholar 

  16. Ueda M, O’Brien K, Rosing DR, Ling A, Kleta R, McAreavey D et al (2006) Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 1:555–562. https://doi.org/10.2215/CJN.01431005

  17. Tajdini M, Bayati M, Vasheghani-Farahani A (2017) Aortic dissection and cystinosis: is there any relationship? Cardiol Young 27:1434–1436. https://doi.org/10.1017/S1047951117000671

    Article  PubMed  Google Scholar 

  18. Nagueh SF, Appleton CP, Gillebert TC, Marino PN, Oh JK, Smiseth OA et al (2009) Recommendations for the evaluation of left ventricular diastolic function by echocardiography. Eur J Echocardiogr 10:165–193. https://doi.org/10.1093/ejechocard/jep007

    Article  PubMed  Google Scholar 

  19. Ayhan SS, Özdemir K, Kayrak M, Bacaksiz A, Vatankulu MA, Eren Ö et al (2012) The evaluation of doxorubicin-induced cardiotoxicity: comparison of Doppler and tissue Doppler-derived myocardial performance index. Cardiol J 19:363–368. https://doi.org/10.5603/CJ.2012.0066

    Article  PubMed  Google Scholar 

  20. Tei C, Nishimura R, Seward J, Tajik A (1997) Noninvasive Doppler-derived myocardial performance index: correlation with simultaneous measurements of cardiac catheterization measurements. J Am Soc Echocardiogr 10:169–178. https://doi.org/10.1016/S0894-7317(97)70090-7

    Article  CAS  PubMed  Google Scholar 

  21. Rojo EC, Rodrigo JL, Pérez de Isla L, Almería C, Gonzalo N, Aubele A et al (2006) Disagreement between tissue Doppler imaging and conventional pulsed wave Doppler in the measurement of myocardial performance index. Eur J Echocardiogr 7:356–364. https://doi.org/10.1016/j.euje.2005.08.004

    Article  PubMed  Google Scholar 

Download references

Author information

Author notes

  1. Mohamed H. Afify and Safaa M. Abdelrahman contributed equally to this work.

Authors and Affiliations

  1. Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, 99 El-Manial St., Cairo, 11451, Egypt

    Mohamed H. Afify, Safaa M. Abdelrahman, Rasha Helmy & Neveen A. Soliman

  2. Cardiology Unit, Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt

    Hossam I. Mohamed, Gaser Abdelmohsen & Osama Abdelaziz

Authors
  1. Mohamed H. Afify
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Safaa M. Abdelrahman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hossam I. Mohamed
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Rasha Helmy
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gaser Abdelmohsen
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Osama Abdelaziz
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Neveen A. Soliman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Neveen A. Soliman.

Ethics declarations

The study was approved by the Research Ethical Committee, Faculty of Medicine, Cairo University.

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Part of this work has been presented as poster in the Cystinosis Research Network (CRN) Family Conference July 2019, Philadelphia, USA.

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Afify, M.H., Abdelrahman, S., Mohamed, H.I. et al. Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography. Pediatr Nephrol 35, 2307–2317 (2020). https://doi.org/10.1007/s00467-020-04657-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-020-04657-6

Keywords

Search

Navigation