European Heart Journal: Case Reports · 4 authors, 4 centres
This summary was generated by AI from a single paper. It has not been reviewed by a clinician and is not clinical advice. Verify against the source before acting on it.
A 3-year-old girl with Noonan syndrome and refractory chylothorax unresponsive to all conventional therapies was treated with trametinib for 3 months, achieving complete resolution of chylothorax with no recurrence over 11 months of follow-up.
A 3-year-old girl with Noonan syndrome (heterozygous RIT1 mutation) and hypertrophic cardiomyopathy developed life-threatening refractory bilateral chylothorax following parainfluenza 3 infection. All conventional treatments—including low-fat/high-MCT diet, octreotide infusion, parenteral nutrition, and diuresis—had failed, and the condition was considered incompatible with long-term survival. She developed severe eczema and increased stoma output manageable with parenteral nutrition. This is a single case report, and optimal treatment regimen, long-term outcomes, and generalizability require further evidence.
