Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.
Michele LioncinoAdelaide FuscoEmanuele MondaDiego ColonnaMichelina SibilioMartina CaiazzaDaniela MagriAngela Carla BorrelliBarbara D'OnofrioMaria Luisa MazzellaRossella ColantuonoMaria Rosaria ArienzoBerardo SarubbiMaria Giovanna RussoGiovanni ChelloGiuseppe LimongelliPublished in: Genes (2022)
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.
Keyphrases
- hypertrophic cardiomyopathy
- left ventricular
- congenital heart disease
- left atrial
- pulmonary hypertension
- dengue virus
- atrial fibrillation
- early onset
- lymph node
- case report
- catheter ablation
- cardiac resynchronization therapy
- pregnant women
- aortic stenosis
- risk assessment
- preterm infants
- coronary artery disease
- squamous cell carcinoma
- pi k akt
- acute coronary syndrome
- gestational age
- cell proliferation
- dna damage
- squamous cell
- percutaneous coronary intervention
- preterm birth
- newly diagnosed
- wild type