The following is the summary of “Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report” published in the January 2023 issue of Pediatrics by Aniol, et al.
Several genes in the Right Coronary Artery/Mitogen-activated protein kinase (RAS/MAPK) pathway are responsible for the etiology of Noonan Syndrome. Identifying additional genes responsible for Noonan Syndrome has led to a greater understanding of the syndrome’s phenotypic diversity, most notably in congenital cardiac problems. To further the understanding of this unusual manifestation of Noonan Syndrome, researchers describe a case report of coronary artery dilation in a child with a RIT1 variation.
Increasing coronary artery dilation and higher inflammatory markers led to the admission of a 2-month-old female. A probable pathogenic RIT1 mutation was found by rapid whole genome sequencing. An uncommon form of Noonan syndrome and related heart abnormalities have been linked to this gene. The RIT1 variation diagnosis reassured the patient’s cardiac findings, and she could go home the next day.
Careful cardiac screening is recommended for patients with Noonan syndrome, and this example emphasizes the significance of the connection between dilated coronary arteries and the illness. The need for consultation with specialists in related fields is further shown by this instance. In spite of her dilated coronary arteries and high inflammatory markers, the patient was able to return home quickly after receiving a diagnosis and the reassurance of interdisciplinary treatment.
Source: bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03818-w