147 LONG TERM MANAGEMENT PROBLEMS IN CARNITINE DEFICIENT CARDIOMYOPATHY
| Autor: | Rene Arcilla, Austin L. Shug, Marjorie E Tripp |
|---|---|
| Rok vydání: | 1985 |
| Předmět: |
Bradycardia
medicine.medical_specialty Ejection fraction business.industry Encephalopathy Cardiomyopathy Hypoglycemia medicine.disease Pericardial effusion Endocrinology Internal medicine Pediatrics Perinatology and Child Health Cardiology medicine Carnitine medicine.symptom business Myopathy medicine.drug |
| Zdroj: | Pediatric Research. 19:135A-135A |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198504000-00177 |
| Popis: | Systemic carnitine deficiency (SCD) can cause congestive cardiomyopathy (CCM) and dysrhythmia, with or without myopathy, hypoglycemia, and encephalopathy. In many cases, SCD is due to renal tubular loss (RTL) of carnitine esters. We studied 2 patients with SCD and CCM, treated for 4 and 2½ years with L-carnitine (C). Pre-Rx studies included: plasma C, 4.8 and 8.4 mcM (NL 35-55); muscle C, 30.0 and 82.1 nmol/gm (NL 2500-5000); LV ejection fraction (EF), 45% and 32%. Patient 1 had syncope with sinus node dysfunction; patient 2 had bradycardia with fasting. After 1 year of C at 50-75 mg/kg/d, muscle C was 1273 and 3103 nmol/gm, EF was 65% and 61%. LV wall and septal thickness were > 3 S.D. above mean. 24 hour fasts did not cause hypoglycemia or dysrhythmia, but mild ketonemia occurred. When C was withheld, RTL persisted and plasma C fell within 12 hours (12.7 and 23.3 mcM). Urine C remained high (663 mcM/L (NL 330 ± 30) despite low plasma C. In both patients, symptoms recur episodically. Patient 1 had worsening LVH with strain, bradycardia, and syncope after a pubertal growth spurt (plasma C 19.8 mcM). Patient 2 had pericardial effusion during febrile illness. Both had normal EF at these times. Both now take C, 150 mg/kg/d to maintain plasma C. SCD is a C dependent state, with increased RTL during growth and stress. Patients with SCD and normal EF may become symptomatic. Although EF may be corrected, syncope, dysrhythmias and other life-threatening complications can result when C doses fail to replace RTL. |
| Databáze: | OpenAIRE |
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