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Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic card...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498305/ https://www.ncbi.nlm.nih.gov/pubmed/36140671 http://dx.doi.org/10.3390/genes13091503 |
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author | Lioncino, Michele Fusco, Adelaide Monda, Emanuele Colonna, Diego Sibilio, Michelina Caiazza, Martina Magri, Daniela Borrelli, Angela Carla D’Onofrio, Barbara Mazzella, Maria Luisa Colantuono, Rossella Arienzo, Maria Rosaria Sarubbi, Berardo Russo, Maria Giovanna Chello, Giovanni Limongelli, Giuseppe |
author_facet | Lioncino, Michele Fusco, Adelaide Monda, Emanuele Colonna, Diego Sibilio, Michelina Caiazza, Martina Magri, Daniela Borrelli, Angela Carla D’Onofrio, Barbara Mazzella, Maria Luisa Colantuono, Rossella Arienzo, Maria Rosaria Sarubbi, Berardo Russo, Maria Giovanna Chello, Giovanni Limongelli, Giuseppe |
author_sort | Lioncino, Michele |
collection | PubMed |
description | Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy. Severe lymphatic abnormalities may contribute to decreased pulmonary compliance in NS, and pulmonary lymphangiectasias should be included in the differential diagnosis of a newborn requiring prolonged oxygen administration. Herein we report the case of a pre-term newborn who was admitted to our unit for the occurrence of severe respiratory distress and subentrant MAT treated with trametinib. |
format | Online Article Text |
id | pubmed-9498305 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-94983052022-09-23 Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation Lioncino, Michele Fusco, Adelaide Monda, Emanuele Colonna, Diego Sibilio, Michelina Caiazza, Martina Magri, Daniela Borrelli, Angela Carla D’Onofrio, Barbara Mazzella, Maria Luisa Colantuono, Rossella Arienzo, Maria Rosaria Sarubbi, Berardo Russo, Maria Giovanna Chello, Giovanni Limongelli, Giuseppe Genes (Basel) Case Report Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy. Severe lymphatic abnormalities may contribute to decreased pulmonary compliance in NS, and pulmonary lymphangiectasias should be included in the differential diagnosis of a newborn requiring prolonged oxygen administration. Herein we report the case of a pre-term newborn who was admitted to our unit for the occurrence of severe respiratory distress and subentrant MAT treated with trametinib. MDPI 2022-08-23 /pmc/articles/PMC9498305/ /pubmed/36140671 http://dx.doi.org/10.3390/genes13091503 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Lioncino, Michele Fusco, Adelaide Monda, Emanuele Colonna, Diego Sibilio, Michelina Caiazza, Martina Magri, Daniela Borrelli, Angela Carla D’Onofrio, Barbara Mazzella, Maria Luisa Colantuono, Rossella Arienzo, Maria Rosaria Sarubbi, Berardo Russo, Maria Giovanna Chello, Giovanni Limongelli, Giuseppe Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title | Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title_full | Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title_fullStr | Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title_full_unstemmed | Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title_short | Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation |
title_sort | severe lymphatic disorder and multifocal atrial tachycardia treated with trametinib in a patient with noonan syndrome and sos1 mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498305/ https://www.ncbi.nlm.nih.gov/pubmed/36140671 http://dx.doi.org/10.3390/genes13091503 |
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