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Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1-associated Noonan syndrome: Expanding the phenotype and review of the literature.
Aly, Safwat A; Boyer, Kenneth M; Muller, Brie-Ann A; Marini, Davide; Jones, Carolyn H; Nguyen, Hoang H.
Afiliación
  • Aly SA; Department of Pediatrics, Rush University Medical College, Chicago, IL, USA.
  • Boyer KM; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Muller BA; Department of Pediatrics, Rush University Medical College, Chicago, IL, USA.
  • Marini D; Department of Pediatrics, Rush University Medical College, Chicago, IL, USA.
  • Jones CH; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Nguyen HH; Department of Pediatrics, Rush University Medical College, Chicago, IL, USA.
Mol Genet Genomic Med ; 8(7): e1253, 2020 07.
Article en En | MEDLINE | ID: mdl-32396283
BACKGROUND: Noonan syndrome is an autosomal dominant disorder secondary to RASopathies, which are caused by germ-line mutations in genes encoding components of the RAS mitogen-activated protein kinase pathway. RIT1 (OMIM *609591) was recently reported as a disease gene for Noonan syndrome. METHODS AND RESULTS: We present a patient with RIT1-associated Noonan syndrome, who in addition to the congenital heart defect, had monocytosis, myeloproliferative disorder, and accelerated idioventricular rhythm that was associated with severe hemodynamic instability. Noonan syndrome was suspected given the severe pulmonary stenosis, persistent monocytosis, and "left-shifted" complete blood counts without any evidence of an infectious process. Genetic testing revealed that the patient had a heterozygous c.221 C>G (pAla74Gly) mutation in the RIT1. CONCLUSION: We report a case of neonatal Noonan syndrome associated with RIT1 mutation. The clinical suspicion for Noonan syndrome was based only on the congenital heart defect, persistent monocytosis, and myeloproliferative process as the child lacked all other hallmarks characteristics of Noonan syndrome. However, the patient had an unusually malignant ventricular dysrhythmia that lead to his demise. The case highlights the fact that despite its heterogeneous presentation, RIT1-associated Noonan syndrome can be extremely severe with poor outcome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Taquicardia Ventricular / Proteínas ras / Trastornos Mieloproliferativos / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Taquicardia Ventricular / Proteínas ras / Trastornos Mieloproliferativos / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Humans / Infant / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos