The Use of Massive Anabolic Therapy to Rescue an Infant with Heart Failure and VLCAD Deficiency

Amy Kritzer, MD, Ed Neilan, MD PhD, Anne O’Donnell, MD PhD, Monica Wojcik, MD, Francis Rohr, RD, Stacey Tarrant, RD, Wen-Hann Tan, BMBS and Gerard Berry, MD

Boston Children’s Hospital Boston, MA

Email: Phone: 978-877-6573

This patient was born at 34 weeks with birth weight of 1835 grams. Newborn screen showed C14:1 level of 2.99 µmol/L (cutoff 0.8 µmol/L). ACADVL gene sequencing revealed 2 mutations confirming VLCADD diagnosis. Physical examination, CK and EKG/echocardiograms were normal. The infant was placed on Enfaport®. At 2½ months, she had emesis requiring hospitalization and intravenous glucose. Due to persistent intermittent emesis at 4 months she was switched to Lipistart®, but emesis persisted. At six months she was admitted to the ICU because of increased emesis and poor feeding. She received D10NS at 1.5X maintenance. The physical examination revealed lethargy and poor perfusion. An echocardiogram showed LV dilatation, systolic dysfunction and mitral regurgitation. The LV ejection fraction was 0.45 but by six days was 0.30. She was treated for heart failure with furosemide and milrinone. High concentrations of intravenous glucose (GIR>15) were administered. Innovative therapy with triheptanoin at 2 grams/kg/day on was started on day 6. By 17 days the LV-ejection fraction was 0.56. Attempts to wean off the high glucose infusion were associated with elevations of CK. G-J tube was placed due to persistent emesis on triheptanoin. Consequently, the parents requested that the triheptanoin be discontinued.  The patient was discharged at 9 months of age on MCT oil. She was readmitted to the ICU at 13 months due to RSV. On admission she had a normal LV ejection fraction (0.54). A foot wound developed secondary to IV infiltrate, and her condition deteriorated. She subsequently died following a cardiopulmonary arrest.

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