Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1 ‐associated Noonan syndrome: Expanding the phenotype and review of the literature

ConclusionWe report a case of neonatal Noonan syndrome associated withRIT1 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.

Source: Molecular Genetics & Genomic Medicine - May 11, 2020 Category: Genetics & Stem Cells Authors: Safwat A. Aly, Kenneth M. Boyer, Brie ‐Ann A. Muller, Davide Marini, Carolyn H. Jones, Hoang H. Nguyen Tags: CLINICAL REPORT Source Type: research