Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study

Submitted: January 14, 2021
Accepted: May 27, 2021
Published: August 9, 2021
Abstract Views: 1188
PDF: 491
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Mucopolysaccharidoses, a rare inherited disorder of lysosomal storage, account for less than 0.1% of all genetic diseases.  The penetrance is highly variable and clinically it varies from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The majority of the patients have been reported to show cardiac abnormalities since pediatric age, however, there is a minority of patients with attenuated disease diagnosed in the adolescent and adult age. The haematopoietic stem cell transplantation and enzyme replacement therapy are the current therapies for these disorders. Thanks to these treatments, Mucopolysaccharidoses patients live longer than in the past. Even though enzyme replacement therapy has been demonstrated to reduce left ventricular mass in patients with cardiomyopathy, the efficacy on valve abnormalities has not been clearly demonstrate yet. Furthermore, thanks to the current therapy, to better understanding and to the advent on new technologies, an increasing number of adolescent and adult patients diagnosed with MPS are followed up in the adult echocardiographic laboratory. Indeed, a systematic descriptive study describing the echocardiographic features of valvular involvement and their evolution in adolescent and adult patients lacks of medical literature and this was the aim of our investigation. Our results showed that all the valves are affected, mainly the mitral valve with a higher prevalence compared to the pediatric age.  The echocardiographic features of MPS differs from other valvular disease of adolescent and adult age, and knowing them can avoid misdiagnosis. Our observations also suggest that the progression of cardiac involvement slows after the initiation of the therapy in our group of age. Further studies on larger population are required to confirm our results. 



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Stapleton M, Arunkumar N, Kubaski F, et al. Clinical presentation and diagnosis of mucopolysaccharidoses. Mol Genet Metab 2018;125:4-17. DOI: https://doi.org/10.1016/j.ymgme.2018.01.003
Parini R, Bertola F, Russo P. Molecular basis diagnosis and clinical management of mupolysaccharidoses. Cardiogenetics 2013;3:e2.
Boffi L, Russo P, Limongelli G. Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. Ital J Pediatr 2018;44:122. DOI: https://doi.org/10.1186/s13052-018-0560-3
Russo P, Andria G, Baldinelli A, et al. [Il cardiologo e le mucopolisaccaridosi. Raccomandazioni del GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) su diagnosi, follow-up e management cardiologico].[Article in Italian]. G Ital Cardiol 2017;18:638-49.
Lin HY, Chuang CK, Huang YH, et al. Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. Orphanet J Rare Dis 2016;11:85. DOI: https://doi.org/10.1186/s13023-016-0471-6
Andrade MFA, Guimarães ICB, Acosta AX, et al. Left ventricular assessment in patients with mucopolysaccharidosis using conventional echocardiography and myocardial deformation by two-dimensional speckle-tracking method. J Pediatr (Rio J) 2019;95:475-81. DOI: https://doi.org/10.1016/j.jped.2018.05.006
Baumgartner H, Falk V, Bax JJ, et al. 2017 ESC/EACTS Guidelines for the management of valvular heart disease. Eur Heart J 2017;38:2739-91. DOI: https://doi.org/10.1093/eurheartj/ehx391
Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr 2015;28:1-39.e14.
Sahasakul Y, Edwards WD, Naessens JM, Tajik AJ. Age-related changes in aortic and mitral valve thickness: implications for two-dimensional echocardiography based on an autopsy study of 200 normal human hearts. Am J Cardiol 1988;62:424-30. DOI: https://doi.org/10.1016/0002-9149(88)90971-X
Webb RH, Culliford-Semmens N, Sidhu K, Wilson NJ. Normal echocardiographic mitral and aortic valve thickness in children. Heart Asia 2017;9:70-5. DOI: https://doi.org/10.1136/heartasia-2016-010872
Zoghbi WA, Adams D, Bonow RO, et al. Recommendations for noninvasive evaluation of native valvular regurgitation: A report from the American Society of Echocardiography developed in collaboration with the Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr 2017;30:303-71. DOI: https://doi.org/10.1016/j.echo.2017.01.007
Çakar NE, Karaca M. Evaluation of echocardiographic findings of mucopolysaccharidosis cases. Eur Arch Med Res 2019;3:167-9. DOI: https://doi.org/10.4274/eamr.galenos.2019.92486
Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders--clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998;157:534-8. DOI: https://doi.org/10.1007/s004310050872

How to Cite

Galzerano, Domenico, Seemi Saba, Abdullah Al Sergani, Olga Vriz, Khalil Alghalayini, Khushnooda Ramzan, Isra Elmahi, Antonio Cittadini, Giovanni Di Salvo, and Valeria Pergola. 2021. “Features and Behavior of Valvular Abnormalities in Adolescent and Adult Patients in Mucopolysaccharidosis: An Echocardiographic Study”. Monaldi Archives for Chest Disease 91 (4). https://doi.org/10.4081/monaldi.2021.1767.