1.
Pacing Clin Electrophysiol
; 27(5): 675-6, 2004 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15125729
RESUMO
This case report describes ventricular fibrillation without overt cardiomyopathy as the presenting symptom of primary carnitine deficiency due to organic cation transporter 2 (OCTN2)-deficiency in a 15-year-old girl. Normally this disease presents early in life with hypoketotic hypoglycemia, muscle weakness, and/or cardiomyopathy. The patient fully recovered after carnitine supplementation. Recognition of this disease is important because its treatment is easy and effective.