Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

Jurecka, Agnieszka; Gołda, Adam; Opoka-Winiarska, Violetta; Piotrowska, Ewa; Tylki‐Szymańska, Anna

doi:10.1016/j.ymgme.2011.08.024

Cited by 26 publications

(30 citation statements)

References 24 publications

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“…Unlike the majority of reviewed patients, patients homozygous for p.R152W mutation showed a significantly different clinical phenotype with predominance of cardiovascular manifestations [7, 8]. …”

Section: Resultsmentioning

confidence: 99%

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

et al. 2013

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Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression. This report focuses on the attenuated form of MPS VI, which can go unrecognized for years and often presents with atypical signs or symptoms. We described a cohort of MPS VI patients (n = 4) heterozygous for the p.Y210C mutation who had a significant osteoarticular involvement at the onset of their disease and who were diagnosed years or even decades later. We have also reviewed the literature (n = 36). Two types of attenuated MPS VI phenotypes could be distinguished: osteoarticular and cardiac. The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially osteoarticular phenotype associated with the p.Y210C mutation. Patients homozygous for the p.R152W mutation presented with a cardiac phenotype, which, despite fulfilling the generally used criteria for attenuated phenotype, may lead to fast disease progression and abrupt death. The knowledge of natural history and genotype–phenotype correlation may help in developing a tailored therapy potentially using enzyme replacement therapy with substrate reduction therapy or chaperones.

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Section: Resultsmentioning

confidence: 99%

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

et al. 2013

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“…Circulatory system Heart valve disease [19,20] Cardiac dysfunction [21] Cardiac hypertrophy [21] Cardiac conduction abnormalities [21,22] …”

Section: Routine Neurological Examinationsmentioning

confidence: 99%

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

Solanki

Alden

Burton

et al. 2012

Molecular Genetics and Metabolism

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“…Surgical treatment may be considered in patients with severe valvular pathology. 7,14 Death is common in the first and second decades due to ventricular arrhythmias, heart failure, or pulmonary infections. There may also be sudden cardiac death.…”

Section: Discussionmentioning

confidence: 99%

A Rare Disease: Mucopolysaccharidosis Type 6 and Cardiac Involvement: Case Report

Güvenç¹,

Çimen²,

Arslan³

et al. 2015

Turkiye Klinikleri J Pediatr

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Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype

Cited by 26 publications

References 24 publications

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI

A Rare Disease: Mucopolysaccharidosis Type 6 and Cardiac Involvement: Case Report

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