Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management

Elizabeth A. Braunlin, Paul R. Harmatz, Maurizio Scarpa, Beatriz Furlanetto, Christoph Kampmann, James P. Loehr, Katherine P. Ponder, William C. Roberts, Howard M. Rosenfeld, Roberto Giugliani

Research output: Contribution to journalReview articlepeer-review

168 Scopus citations


The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality. The clinical examination of individuals with MPS is often difficult due to physical and, sometimes, intellectual patient limitations. The absence of precordial murmurs does not exclude the presence of cardiac disease. Echocardiography and electrocardiography are key diagnostic techniques for evaluation of valves, ventricular dimensions and function, which are recommended on a regular basis. The optimal technique for evaluation of coronary artery involvement remains unsettled. Standard medical and surgical techniques can be modified for MPS patients, and systemic therapies such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT) may alter overall disease progression with regression of ventricular hypertrophy and maintenance of ventricular function. Cardiac valve disease is usually unresponsive or, at best, stabilized, although ERT within the first few months of life may prevent valve involvement, a fact that emphasizes the importance of early diagnosis and treatment in MPS.

Original languageEnglish (US)
Pages (from-to)1183-1197
Number of pages15
JournalJournal of Inherited Metabolic Disease
Issue number6
StatePublished - Dec 2011

Bibliographical note

Funding Information:
PR Harmatz has provided consulting support to BioMarin Pharmaceutical Inc., Novato, CA and Shire HGT, Cambridge, MA, and received research grants from BioMarin, speaker’s honorarium and travel support from BioMarin, Shire and Genzyme.

Funding Information:
C Kampmann received speaker’s honoraria and travel support from BioMarin, and research grants from Shire.

Funding Information:
Acknowledgements The authors are grateful to Ismar Healthcare NV for their writing assistance, which was funded by BioMarin International, Novato, USA.


Dive into the research topics of 'Cardiac disease in patients with mucopolysaccharidosis: Presentation, diagnosis and management'. Together they form a unique fingerprint.

Cite this