Skip to main content
SpringerLink
Log in

Evaluation of cardiac findings in mucopolysaccharidosis

  • Original Paper
  • Published:
The International Journal of Cardiovascular Imaging Aims and scope Submit manuscript

Abstract

Purpose

Mucopolysaccharidoses (MPS) are a group of rare genetic diseases and heart involvement is one of the important conflicts in most types, which may cause serious complications. We used M-Mode and two-dimensional speckle tracking echocardiography (2D-STE) to explore cardiovascular involvements in MPS patients.

Method

The present cross-sectional study investigated the frequency of cardiac involvements in MPS patients. Included participants were MPS types I, II, III, IV, and VI who underwent specialized echocardiography exams to assess valvular function, systolic and diastolic function, left ventricular ejection fraction (LVEF), and global longitudinal strain (GLS).

Results

35 patients were enrolled in this study. The total mean age of patients was 9.58 ± 5.11 years and 71.4% were male. Type IV (40%) and type III (31.4%) were the most frequent MPS. Although LVEF did not differ notably among MPS types, GLS was significantly different (p = 0.029). Mitral regurgitation was observed remarkably more in MPS type III (p = 0.001) while mitral stenosis was more common in type III (p = 0.007). There was a significant association between LVEF and GLS (β= -0.662; p = 0.025) and between LVEF and MPS type (β = 1.82; p = 0.025) when adjusted for GLS.

Conclusion

Cardiac complications are very common and are one of the most important causes of death in MPS patients. 2D-STE seems to be superior to M-Mode for detection of early and subclinical cardiac dysfunction in MPS patients.

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
Fig. 4

Similar content being viewed by others

References

  1. Muenzer J, Rigoldi M, Verrecchia E, Manna R, Mascia MT (20112018) Overview of the mucopolysaccharidoses. Rheumatol (Oxford)Ital J Pediatr 50(2):4–12. https://doi.org/10.1186/s13052-018-0551-4.2018

  2. Chen MR, Lin SP, Hwang HK, Yu CH (2005) Cardiovascular changes in mucopolysaccharidoses in Taiwan. Acta Cardiol 60:51–53. https://doi.org/10.2143/AC.60.1.2005049

    Article  PubMed  Google Scholar 

  3. Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA et al (2013) Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis 36:227–234. https://doi.org/10.2143/AC.60.1.2005049

    Article  PubMed  CAS  Google Scholar 

  4. Lin SM, Lin HY, Chuang CK, Lin SP, Chen MR (2014) Cardiovascular abnormalities in taiwanese patients with mucopolysaccharidosis. Mol Genet Metab 111(4):493–498. https://doi.org/10.1016/j.ymgme.2014.02.009

    Article  PubMed  CAS  Google Scholar 

  5. Lin HY, Chuang CK, Chen MR, Lin SM, Hung CL, Chang CY et al (2016) Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidosis I, II, IVA and VI. Mol Genet Metab 117:431–437. https://doi.org/10.1016/j.ymgme.2016.02.003

    Article  PubMed  CAS  Google Scholar 

  6. Braunlin E, Berry J, Whitley C (2006) Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol 98:416–418. https://doi.org/10.1016/j.amjcard.2006.02.047

    Article  PubMed  CAS  Google Scholar 

  7. Lavery C, Hendriksz C (2015) Mortality in patients with Morquio syndrome A. JIMD Rep 15:59–66. https://doi.org/10.1007/8904_2014_298

    Article  PubMed  Google Scholar 

  8. Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ et al (2016) Causes of death and clinical characteristics of 34 patients with mucopolysaccharidosis II in Taiwan from 1995–2012. Orphanet J Rare Dis 11:85. https://doi.org/10.1186/s13023-016-0471-6

    Article  PubMed  PubMed Central  Google Scholar 

  9. Leal GN, de Paula AC, Leone C, Kim CA (2010) Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 20:254–261. https://doi.org/10.1017/S104795110999062X

    Article  PubMed  Google Scholar 

  10. Parini R, Bertola F, Russo P (2013) Molecular basis diagnosis and clinical management of mucopolysaccharidosis. Cardiogenetics 3(1):2–12. https://doi.org/10.1007/s10545-011-9359-8

    Article  CAS  Google Scholar 

  11. Russo P, Andria G, Baldinelli A, Boffi ML, Parini R, Limongelli G et al (2017) The cardiologist and the mucopolysaccharidosis. G Ital Cardiol (Rome) 18:638–649. https://doi.org/10.1714/2741.27947

    Article  PubMed  Google Scholar 

  12. Kampmann C, Abu-Tair T, Gökce S, Lampe C, Reinke J, Mengel E et al (2016) Heart and Cardiovascular involvement in patients with mucopolysaccharidosis type IVA (Morquio A syndrome). PLoS ONE 11:0162612. https://doi.org/10.1371/journal.pone.0162612

    Article  CAS  Google Scholar 

  13. Wiseman DH, Mercer J, Tylee K, Malaiya N, Bonney DK, Jones SA et al (2013) Management of mucopolysaccharidosis type IH (Hurler’s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution’s experience. J Inherit Metab Dis 36:263–270. https://doi.org/10.1007/s10545-012-9500-3

    Article  PubMed  CAS  Google Scholar 

  14. Chatterjee S, Mukherjee S, Rani N, Kumar P, Kumar P, Sarkar A (2022) Assessment of cardiac function in children by strain imaging and its correlation with conventional echocardiographic parameter. Ann Card Anaesth 25:264–269. https://doi.org/10.4103/aca.aca_35_21

    Article  PubMed  PubMed Central  Google Scholar 

  15. Monaco A, Fraldi A (2021) Protein aggregation and autophagy dysfunction: New lessons from mucopolysaccharidoses. Autophagy. 2;17(11):3875-6

  16. Leal GN, de Paula AC, Leone C, Kim CA (2010) Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 20(3):254–261

    Article  PubMed  Google Scholar 

  17. Boffi L, Russo P, Limongelli G (2018) Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. Ital J Pediatr 44:122. https://doi.org/10.1186/s13052-018-0560-3

    Article  PubMed  PubMed Central  Google Scholar 

  18. Rigante D, Segni G (2002) Cardiac structural involvement in mucopolysaccharidoses. Cardiology 2698(1–2):18–20

    Article  Google Scholar 

  19. Fesslová V, Corti P, Sersale G, Rovelli A, Russo P, Mannarino S, Butera G, Parini R (2009) The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses. Cardiol Young 19(2):170–178

    Article  PubMed  Google Scholar 

  20. Lin HY, Chuang C, Lee C, Chen M, Sung K, Lin S et al (2020) Cardiac evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese patients with Mucopolysaccharidoses. Diagnostics 10:62. https://doi.org/10.3390/diagnostics10020062

    Article  PubMed  PubMed Central  Google Scholar 

  21. Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G (2009) Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metabolic Disease: Official J Soc Study Inborn Errors Metabolism 32(4):534–543

    Article  CAS  Google Scholar 

  22. Lin HY, Chen MR, Lee CL et al (2021) Natural progression of cardiac features and long-term effects of enzyme replacement therapy in taiwanese patients with mucopolysaccharidosis II. Orphanet J Rare Dis 16:1–4. https://doi.org/10.1186/s13023-021-01743-2

    Article  Google Scholar 

  23. Leal GN, de Paula AC, Leone C, Kim CA (2010) Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 20:254–261

    Article  PubMed  Google Scholar 

  24. Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP (2019) Cardiac characteristics and natural progression in taiwanese patients with mucopolysaccharidosis III. Orphanet J Rare Dis 14:140

    Article  PubMed  PubMed Central  Google Scholar 

  25. Nijmeijer SC, Bruin-Bon R, Wijburg F, Kuipers I (2019) Cardiac disease in mucopolysaccharidosis type III. J Inherit Metab Dis 42:276–285. https://doi.org/10.1002/jimd.12015

    Article  PubMed  Google Scholar 

  26. Golda A, kaJurecka A, Szymanska A (2012) Cardiovascular manifestations of mucopolysaccharidosis type VI (maroteaux–Lamy syndrome). Int J Cardiol 158:6–11. https://doi.org/10.1016/j.ijcard.2011.06.097

    Article  PubMed  Google Scholar 

  27. Kasapkara ÇS, Tümer L, Aslan AT et al (2014) Home sleep study characteristics in patients with mucopolysaccharidosis. Sleep Breath 18:143–149. https://doi.org/10.1007/s11325-013-0862-z

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

The authors of this manuscript appreciate Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Metabolic Liver Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran and all people who helped in preparation of this study. We also appreciate officials and nurses of metabolic and also echocardiography departments of Imam Hossein Children Hospital.

Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran

    Bahar Dehghan

  2. Metabolic Liver Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Noushin Rostampour, Neda Mostofizadeh & Mahin Hashemipour

  3. Trauma and Injury Research Center, Iran University of Medical Sciences, Tehran, Iran

    Mohsen Sedighi

  4. School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Mohammad Hosseini Saryazdi & Mohammad Jokar Rizi

  5. Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

    Mehri Khoshhali

Authors
  1. Bahar Dehghan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Noushin Rostampour
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mohsen Sedighi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mohammad Hosseini Saryazdi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Mohammad Jokar Rizi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Neda Mostofizadeh
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Mahin Hashemipour
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Mehri Khoshhali
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Bahar dehghan: echocardiography,wrote paper,collected data,design studyNoushin Rostampour:wrote paper,collected data,patient examination,design studyMohammad Hosseini Saryazdi:wrote paperMohammad Jokar Rizi:wrote paperNeda Mostofizadeh:collected data,design studyMahin Hashemipour:collected data,design studyMehri khoshhali: Data analysisAll authors reviewed the manuscript.

Corresponding author

Correspondence to Noushin Rostampour.

Ethics declarations

Ethics approval

This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Isfahan University of Medical Sciences, Isfahan, Iran (Date: 7–02-2022/No. 1400.073).

Consent to participate

Written informed consent was obtained from the parents.

Competing interests

The authors declare no competing interests.

Additional information

Publisher’s Note

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

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dehghan, B., Rostampour, N., Sedighi, M. et al. Evaluation of cardiac findings in mucopolysaccharidosis. Int J Cardiovasc Imaging 40, 73–78 (2024). https://doi.org/10.1007/s10554-023-02983-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10554-023-02983-y

Keywords

Search

Navigation