Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report
Abstract Background Noonan 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 coronar...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-01-01
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| Series: | BMC Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12887-022-03818-w |
| _version_ | 1797958479205367808 |
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| author | Claudia V. Aniol Jeremy W. Prokop Surender Rajasekaran Spencer Pageau Sydney K. Elizer Elizabeth A. VanSickle Caleb P. Bupp |
| author_facet | Claudia V. Aniol Jeremy W. Prokop Surender Rajasekaran Spencer Pageau Sydney K. Elizer Elizabeth A. VanSickle Caleb P. Bupp |
| author_sort | Claudia V. Aniol |
| collection | DOAJ |
| description | Abstract Background Noonan 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 presentation A 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. Conclusions This 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. |
| first_indexed | 2024-04-11T00:19:38Z |
| format | Article |
| id | doaj.art-5a8e17ed77eb4760af579bad5bea764b |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-11T00:19:38Z |
| publishDate | 2023-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-5a8e17ed77eb4760af579bad5bea764b2023-01-08T12:20:57ZengBMCBMC Pediatrics1471-24312023-01-012311410.1186/s12887-022-03818-wDilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case reportClaudia V. Aniol0Jeremy W. Prokop1Surender Rajasekaran2Spencer Pageau3Sydney K. Elizer4Elizabeth A. VanSickle5Caleb P. Bupp6College of Osteopathic Medicine, Rocky Vista UniversityDepartment of Pediatrics and Human Development, College of Human Medicine, Michigan State UniversityDepartment of Pharmacology and Toxicology, College of Human Medicine, Michigan State UniversityCorewell Health Office of ResearchDepartment of Internal Medicine and Pediatrics, Helen DeVos Children’s HospitalMedical Genetics, Corewell Health and Helen DeVos Children’s HospitalDepartment of Pediatrics and Human Development, College of Human Medicine, Michigan State UniversityAbstract Background Noonan 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 presentation A 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. Conclusions This 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.https://doi.org/10.1186/s12887-022-03818-wNoonan syndromeCoronary artery dilationCase reportHeart defectsRIT1 |
| spellingShingle | Claudia V. Aniol Jeremy W. Prokop Surender Rajasekaran Spencer Pageau Sydney K. Elizer Elizabeth A. VanSickle Caleb P. Bupp Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report BMC Pediatrics Noonan syndrome Coronary artery dilation Case report Heart defects RIT1 |
| title | Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report |
| title_full | Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report |
| title_fullStr | Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report |
| title_full_unstemmed | Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report |
| title_short | Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report |
| title_sort | dilated coronary arteries in a 2 month old with rit1 associated noonan syndrome a case report |
| topic | Noonan syndrome Coronary artery dilation Case report Heart defects RIT1 |
| url | https://doi.org/10.1186/s12887-022-03818-w |
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