title: [Clinical presentation and therapeutic outcomes of carnitine deficiency-induced cardiomyopathy].
abstract: OBJECTIVE
  Carnitine deficiency has been associated with progressive cardiomyopathy due to compromised energy metabolism. The objective of this study was to investigate clinical features of carnitine deficiency-induced cardiomyopathy and the therapeutic efficacy of L-carnitine administration.
  
  
  METHODS
  Between January 2010 and December 2011, filter-paper blood spots were collected from 75 children with cardiomyopathy. Free carnitine and acylcarnitine profiles were measured for each individual by tandem mass spectrometry (MS/MS). For those in whom carnitine deficiency was demonstrated, treatment was begun with L-carnitine at a dose of 150 - 250 mg/(kg·d). Clinical evaluation, including physical examination, electrocardiography, chest x-ray, echocardiography and tandem mass spectrometry, was performed before therapy and during follow-up.
  
  
  RESULTS
  Of 75 cardiomyopathy patients, the diagnosis of carnitine deficiency was confirmed in 6 patients, which included 1 boy and 5 girls. Their age ranged from 0.75 to 6 years. Free carnitine content was (1.55 ± 0.61) µmol/L (reference range 10 - 60 µmol/L). Left ventricular end-diastolic diameter (LVDd) was (5.04 ± 0.66) cm and left ventricular ejection fraction (LVEF) was (38.5 ± 10.5)%. After 10 - 30 d therapy of L-carnitine, free carnitine content rose to (30.59 ± 15.02) µmol/L (t = 4.79, P < 0.01). LVDd decreased to (4.42 ± 0.67) cm (t = 4.28, P < 0.01) and LVEF increased to (49.1 ± 7.6)% (t = 6.59, P < 0.01). All patients received follow-up evaluations beyond 6 months of treatment. Clinical improvement was dramatic. LVEF returned to normal completely in all the 6 patients. LVDd decreased further in all the 6 patients and returned to normal levels in 3 patients. No clinical signs or symptoms were present in any of the 6 patients. The only complications of therapy had been intermittent diarrhea in 1 patient.
  
  
  CONCLUSIONS
  Tandem mass spectrometry is helpful to diagnose carnitine deficiency and should be performed in all children with cardiomyopathy. L-carnitine has a good therapeutic effect on carnitine deficiency-induced cardiomyopathy.
authors: Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
authors: Li-jun
authors: LJ
authors: Fu
authors: Shu-bao
authors: SB
authors: Chen
authors: Lian-shu
authors: LS
authors: Han
authors: Ying
authors: Y
authors: Guo
authors: Peng-jun
authors: PJ
authors: Zhao
authors: Min
authors: M
authors: Zhu
authors: Fen
authors: F
authors: Li
authors: Mei-rong
authors: MR
authors: Huang
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000188:drug therapy* / Q000209:etiology; D002316:Cardiotonic Agents / Q000008:administration & dosage / Q000627:therapeutic use; D002331:Carnitine / Q000097:blood / Q000172:deficiency* / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D053719:Tandem Mass Spectrometry; D016896:Treatment Outcome; D016277:Ventricular Function, Left / Q000187:drug effects
chemical_list: D002316:Cardiotonic Agents; D002331:Carnitine