Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report
Ortmann L, Velasco D, Cole J (2025). European Heart Journal - Case Reports.
Summary
A single case report of a newborn diagnosed with Barth syndrome before birth who had a dilated left ventricle with an ejection fraction of about 20% at birth and required intubation and haemodynamic support. Elamipretide was started under expanded access on day 34 alongside standard heart-failure medication. Later echocardiograms showed ejection fraction improving to near normal and the infant was discharged on day 61. The authors suggest the drug may have contributed to the improvement while acknowledging a single case with concurrent standard treatment cannot establish cause.