Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G...

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Detalles Bibliográficos
Autores principales: Ribeiro, Erlane Marques, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, da Silva, Carlos Antônio Bruno, Schwartz, Ida Vanessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121363/
https://www.ncbi.nlm.nih.gov/pubmed/27896117
http://dx.doi.org/10.1016/j.ymgmr.2014.09.003
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author Ribeiro, Erlane Marques
Brusius-Facchin, Ana Carolina
Leistner-Segal, Sandra
da Silva, Carlos Antônio Bruno
Schwartz, Ida Vanessa
author_facet Ribeiro, Erlane Marques
Brusius-Facchin, Ana Carolina
Leistner-Segal, Sandra
da Silva, Carlos Antônio Bruno
Schwartz, Ida Vanessa
author_sort Ribeiro, Erlane Marques
collection PubMed
description Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential diagnosis of every case of cardiomyopathy presenting during the first year of life.
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spelling pubmed-51213632016-11-28 Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report Ribeiro, Erlane Marques Brusius-Facchin, Ana Carolina Leistner-Segal, Sandra da Silva, Carlos Antônio Bruno Schwartz, Ida Vanessa Mol Genet Metab Rep Case Report Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential diagnosis of every case of cardiomyopathy presenting during the first year of life. Elsevier 2014-09-29 /pmc/articles/PMC5121363/ /pubmed/27896117 http://dx.doi.org/10.1016/j.ymgmr.2014.09.003 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Case Report
Ribeiro, Erlane Marques
Brusius-Facchin, Ana Carolina
Leistner-Segal, Sandra
da Silva, Carlos Antônio Bruno
Schwartz, Ida Vanessa
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title_full Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title_fullStr Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title_full_unstemmed Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title_short Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
title_sort cardiac disease as the presenting feature of mucopolysaccharidosis type iiia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121363/
https://www.ncbi.nlm.nih.gov/pubmed/27896117
http://dx.doi.org/10.1016/j.ymgmr.2014.09.003
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