LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation

In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, sh...

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Detalles Bibliográficos
Autores principales: Ganigara, Madhusudan, Prabhu, Atul, Kumar, Raghvannair Suresh
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104541/
https://www.ncbi.nlm.nih.gov/pubmed/21677813
http://dx.doi.org/10.4103/0974-2069.79631
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author Ganigara, Madhusudan
Prabhu, Atul
Kumar, Raghvannair Suresh
author_facet Ganigara, Madhusudan
Prabhu, Atul
Kumar, Raghvannair Suresh
author_sort Ganigara, Madhusudan
collection PubMed
description In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation.
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spelling pubmed-31045412011-06-14 LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation Ganigara, Madhusudan Prabhu, Atul Kumar, Raghvannair Suresh Ann Pediatr Cardiol Case Report In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, showing genotype-phenotype correlation. Medknow Publications 2011 /pmc/articles/PMC3104541/ /pubmed/21677813 http://dx.doi.org/10.4103/0974-2069.79631 Text en Copyright: © Annals of Pediatric Cardiology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ganigara, Madhusudan
Prabhu, Atul
Kumar, Raghvannair Suresh
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title_full LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title_fullStr LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title_full_unstemmed LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title_short LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
title_sort leopard syndrome in an infant with severe hypertrophic cardiomyopathy and ptpn11 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104541/
https://www.ncbi.nlm.nih.gov/pubmed/21677813
http://dx.doi.org/10.4103/0974-2069.79631
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AT prabhuatul leopardsyndromeinaninfantwithseverehypertrophiccardiomyopathyandptpn11mutation
AT kumarraghvannairsuresh leopardsyndromeinaninfantwithseverehypertrophiccardiomyopathyandptpn11mutation

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