ReviewItalian journal of pediatrics2018
Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.
Review in Italian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 41 citations in OpenAlex.
- A cross-sectional observational study: assessment of cardiovascular damage in mucopolysaccharidoses mutation carriers.Cardiovascular diagnosis and therapy · 2026Article
- "Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report.BMC oral health · 2024Article
- Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?International journal of molecular sciences · 2024Review
- Efficacy of a Combination Therapy with Laronidase and Genistein in Treating Mucopolysaccharidosis Type I in a Mouse Model.International journal of molecular sciences · 2024Article
- Evaluation of cardiac findings in mucopolysaccharidosis.The international journal of cardiovascular imaging · 2024Article
- Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.Diagnostics (Basel, Switzerland) · 2022Review
- Drug Repositioning Applied to Cardiovascular Disease in Mucopolysaccharidosis.Life (Basel, Switzerland) · 2022Article
- Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.Journal of medical genetics · 2022Article
- Non-Cardiac Cause of Death in Selected Group Children with Cardiac Pathology: A Retrospective Single Institute Study.Children (Basel, Switzerland) · 2022Article
- Surgical Management of Valvular Heart Disease in Mucopolysaccharidoses: A Review of Literature.Biomedicines · 2022Review
- Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses.Frontiers in cardiovascular medicine · 2022Review
- Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.Frontiers in cardiovascular medicine · 2022Review
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy.Frontiers in cardiovascular medicine · 2021Article
- Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.Journal of laboratory physicians · 2020Article
- Review
- Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.Molecular genetics and metabolism reports · 2020Article
- Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.PloS one · 2020Article
- A case study of three patients with mucopolysaccharidoses in Hue Central Hospital.SAGE open medical case reports · 2020Article
- Enzyme replacement therapy: efficacy and limitations.Italian journal of pediatrics · 2018Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals. The clinical picture generally worsens with age due to progressive storage involving mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye, and ear. Cardiac storage of GAGs involves valves, heart muscle, and vessels (particularly the coronary arteries), and can be specific in relation to different MPS types and enzyme defects. MPS I, II, and VI are those with the most severe cardiac involvement. The cardiologist is a key figure in MPS, and their role is expanding from cardiac-specific management to early diagnosis when the mild disease phenotypes have not yet been recognized by other specialists. Familial and personal history, electrocardiography, imaging, and laboratory findings represent important steps in the clinical investigation of these patients. New treatments have led to an increased need for cardiologists to be on the lookout for MPS patients since they can significantly improve the lives of people with MPS if they suspect the diagnosis and refer them for enzyme replacement therapy or bone marrow transplantation.
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Registered trials
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