Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene. We report a 54‐year‐old male with apical hypertrophic cardiomyopathy, who was diagnosed with NSML due to his short stature, multiple lentigines, winged neck, pectus ex...

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Autores principales: Rivero‐García, Pamela, Campuzano‐Estrada, Isabel del Carmen, Hernandez‐Felix, Jorge Humberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193/
https://www.ncbi.nlm.nih.gov/pubmed/37361648
http://dx.doi.org/10.1002/ccr3.7607
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author Rivero‐García, Pamela
Campuzano‐Estrada, Isabel del Carmen
Hernandez‐Felix, Jorge Humberto
author_facet Rivero‐García, Pamela
Campuzano‐Estrada, Isabel del Carmen
Hernandez‐Felix, Jorge Humberto
author_sort Rivero‐García, Pamela
collection PubMed
description Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene. We report a 54‐year‐old male with apical hypertrophic cardiomyopathy, who was diagnosed with NSML due to his short stature, multiple lentigines, winged neck, pectus excavatum, and a heterozygous PV in PTPN11 c.836A > ¡G.
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spelling pubmed-102901932023-06-25 Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines Rivero‐García, Pamela Campuzano‐Estrada, Isabel del Carmen Hernandez‐Felix, Jorge Humberto Clin Case Rep Case Report Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene. We report a 54‐year‐old male with apical hypertrophic cardiomyopathy, who was diagnosed with NSML due to his short stature, multiple lentigines, winged neck, pectus excavatum, and a heterozygous PV in PTPN11 c.836A > ¡G. John Wiley and Sons Inc. 2023-06-23 /pmc/articles/PMC10290193/ /pubmed/37361648 http://dx.doi.org/10.1002/ccr3.7607 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Rivero‐García, Pamela
Campuzano‐Estrada, Isabel del Carmen
Hernandez‐Felix, Jorge Humberto
Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title_full Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title_fullStr Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title_full_unstemmed Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title_short Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
title_sort hypertrophic cardiomyopathy in an adult patient with noonan syndrome with multiple lentigines
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193/
https://www.ncbi.nlm.nih.gov/pubmed/37361648
http://dx.doi.org/10.1002/ccr3.7607
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AT hernandezfelixjorgehumberto hypertrophiccardiomyopathyinanadultpatientwithnoonansyndromewithmultiplelentigines

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