Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
Autor: | Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Michelina Sibilio, Martina Caiazza, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe Limongelli |
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Rok vydání: | 2022 |
Předmět: | |
Zdroj: | Genes. 13:1503 |
ISSN: | 2073-4425 |
DOI: | 10.3390/genes13091503 |
Popis: | 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. |
Databáze: | OpenAIRE |
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