ReviewJournal of inherited metabolic disease2011
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers.
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Who cites it
144 citing papers in PubMed, 296 citations in OpenAlex.
- Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings.Molecular genetics and metabolism reports · 2026Article
- Adjunctive nebulization of Idursulfase to intravenous treatment enhances cardiac proteome adaptations in IDS-KO mice.bioRxiv : the preprint server for biology · 2026Article
- Established and emerging roles of lysosomal dysfunction in cardiac aging.Nature cardiovascular research · 2026Review
- Rare and rarer: percutaneous transcatheter mitral commissurotomy using over-the-wire technique in a patient with mucopolysaccharidosis-a case report.European heart journal. Case reports · 2026Article
- Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.Journal of inherited metabolic disease · 2026Article
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Glycosaminoglycans in tissue regeneration: Insights into glycobiology and their biomedical application.Bioactive materials · 2026Review
- Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy.Diagnostics (Basel, Switzerland) · 2026Article
- Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges.Diagnostics (Basel, Switzerland) · 2026Article
- Review
- Ultrasound-guided one-point puncture lumbosacral plexus block combined with laryngeal mask airway general anesthesia for thigh amputation in a patient with mucopolysaccharidosis: a case report.Frontiers in medicine · 2026Article
- Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.Biomedicines · 2025Review
- A zebrafish model of chronic heart failure caused by protein aggregation in heart valves.Communications biology · 2025Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience.Molecular genetics and metabolism reports · 2025Article
- Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.Diagnostics (Basel, Switzerland) · 2025Article
- Article
- Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).Frontiers in pharmacology · 2025Article
- An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies.Frontiers in cardiovascular medicine · 2025Review
- Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy.Journal of inherited metabolic disease · 2025Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.