Nov 22, 2021
The participant was diagnosed with a heart malformation (hypoplastic left heart) prenatally. She was born full-term at 37 weeks. After she was born, she had a blood clot that traveled to her lungs (pulmonary embolism) and a stroke. She subsequently developed seizures that are well-controlled with medication.
As a toddler, the patient had recurring fevers, rashes, and inflammation throughout her body. She was found to have elevated liver enzymes (with hepatic fibrosis on biopsy). Later, she was diagnosed with juvenile arthritis. After genetic testing, she was diagnosed with Noonan syndrome caused by a variant in the RRAS2 gene. However, it is unclear if her autoinflammation and liver disease are connected to her Noonan syndrome or if these have different causes.
Clinicians and researchers have identified the following genetic change to be causing some of the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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