Successful orthotopic heart transplantation in CPTII deficiency

Presented By:

Georgianne L. Arnold, Elizabeth McCracken, Brian Feingold B, Jerry Vockley

University of Pittsburgh Medical Center, Pittsburgh, PA USA

Corresponding author: +1 412 692 5070

BACKGROUND: CPTII deficiency has variable presentation with hypoglycemia, rhabdomyolysis, or potentially fatal infantile cardiomyopathy.

CASE REPORT: We report a case of successful orthotopic heart transplantation in a girl with infantile onset dilated cardiomyopathy secondary to CPTII deficiency.

RESULTS: Birth-36 weeks, transient resp. distress. NBS C16 28.07 umol/L (nl< 0.9). CPTII deficiency confirmed by DNA (533/534 T insertion/534-558 (25BP) deletion) and fibroblast 0.03 nmol palmitate/min/mg protein (nl 0.4-1.85). Diet:30% calories from fat (Pregestamil), essential fatty acid and carnitine supplements. Age 0-7 mos–12 admissions for illness, hypoglycemia or pancreatitis Age 7mos–dilated cardiomyopathy, carnitine deficiency (free carnitine 6 umol/L); gastrostomy and night feeds begun. Age 12 mos-relapse cardiac failure.Triheptanoin (C7) initiated (Dr. Charles Roe), improved hepatomegaly and stamina (sub-therapeutic C7 levels). Age 15 mos–RSV infection, intractable cardiomyopathy (ejection fraction 20%), orthotopic heart transplant at 18 mos with symptom resolution and onset C7 level sufficiency.Ages 2-9 yrs-Occasional preventive admits, normal CK, gastrostomy removed. Ages 9-10 yrs–many admits for vomiting, diarrhea, NH3 60-140 umol/L, episode altered mental status with NH3 312 (requiring dialysis) and CK 8076 IU/L. Age 11 yrs–Recurrent vomiting with NH3 30-100 and normal CK, repeat episode altered mental status with NH3 374 (normal CK). Found to be inducing vomiting for weight loss (BMI 22). Age 13 yrs–medically stable, NH3 99, CK 103.

DISCUSSION: Orthotopic heart transplantation successfully treated profound cardiomyopathy in an infant with CPTII deficiency. Post-transplant C7 levels became therapeutic, and hypoglycemia and weakness resolved. A decade later the patient has normal development and cardiac function, normal muscle strength/stamina, with asymptomatic chronic elevations of NH3, s/p two episodes of symptomatic hyperammonemia (one with rhabdomyolysis).