Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report

BMC Pediatrics

Case Report

Claudia V. Aniol¹  Spencer Pageau²  Sydney K. Elizer³  Jeremy W. Prokop⁴  Caleb P. Bupp⁵  Surender Rajasekaran⁶  Elizabeth A. VanSickle⁷ 

[1] College of Osteopathic Medicine, Rocky Vista University, Parker, CO, USA;Corewell Health Office of Research, Grand Rapids, MI, USA;Department of Internal Medicine and Pediatrics, Helen DeVos Children’s Hospital, Grand Rapids, MI, USA;Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA;Department of Pharmacology and Toxicology, College of Human Medicine, Michigan State University, East Lansing, MI, USA;Corewell Health Office of Research, Grand Rapids, MI, USA;Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA;Medical Genetics, Corewell Health and Helen DeVos Children’s Hospital, 25 Michigan St NE, Suite 2000, 49503, Grand Rapids, MI, USA;Department of Pharmacology and Toxicology, College of Human Medicine, Michigan State University, East Lansing, MI, USA;Corewell Health Office of Research, Grand Rapids, MI, USA;Pediatric Critical Care Medicine, Helen DeVos Children’s Hospital, Grand Rapids, MI, USA;Medical Genetics, Corewell Health and Helen DeVos Children’s Hospital, 25 Michigan St NE, Suite 2000, 49503, Grand Rapids, MI, USA;

关键词: Noonan syndrome;    Coronary artery dilation;    Case report;    Heart defects;    RIT1;   

DOI  :  10.1186/s12887-022-03818-w

 received in 2022-01-05, accepted in 2022-12-22,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundNoonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here, we report a case of dilated coronary arteries in a pediatric patient with a RIT1 variant to add to the body of literature around this rare presentation of Noonan Syndrome. Case presentationA 2-month-old female was admitted due to increasing coronary artery dilation and elevated inflammatory markers. Rapid whole genome sequencing was performed and a likely pathogenic RIT1 variant was detected. This gene has been associated with a rare form of Noonan Syndrome and associated heart defects. Diagnosis of the RIT1 variant also gave reassurance about the patient’s cardiac findings and allowed for more timely discharge as she was discharged to home the following day. ConclusionsThis case highlights the importance of the association between dilated coronary arteries and Noonan syndrome and that careful cardiac screening should be advised in patients diagnosed with Noonan syndrome. In addition, this case emphasizes the importance of involvement of other subspecialities to determine a diagnosis. Through multidisciplinary medicine, the patient was able to return home in a timely manner with a diagnosis and the reassurance that despite her dilated coronary arteries and elevated inflammatory markers there was no immediate concern to her health.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

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