Familial hypertrophic cardiomyopathy and muscle carnitine deficiency
- 1 March 1990
- journal article
- research article
- Published by Wiley in Muscle & Nerve
- Vol. 13 (3), 192-194
- https://doi.org/10.1002/mus.880130303
Abstract
Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment withL-carnitine, 3–4 g daily, and a long-chain fattyacid-free diet.Keywords
This publication has 10 references indexed in Scilit:
- Hypertrophic CardiomyopathyNew England Journal of Medicine, 1987
- Successful Carnitine Treatment in Two Siblings Having Lipid Storage Myopathy with Hypertrophic CardiomyopathyNeuropediatrics, 1985
- Carnitine deficiency presenting as familial cardiomyopathy: A treatable defect in carnitine transportThe Journal of Pediatrics, 1982
- Systemic Carnitine Deficiency Presenting as Familial Endocardial FibroelastosisNew England Journal of Medicine, 1981
- Muscle carnitine deficiency and fatal cardiomyopathyNeurology, 1978
- Muscle fiber disarray in common heart diseasesThe American Journal of Cardiology, 1977
- Fatal cases of lipid storage myopathy with carnitine deficiency.Journal of Neurology, Neurosurgery & Psychiatry, 1977
- Voluntary Muscle Involvement in Hypertrophic CardiomyopathyAnnals of Internal Medicine, 1976
- An improved and simplified radioisotopic assay for the determination of free and esterified carnitineJournal of Lipid Research, 1976
- Hereditary carnitine deficiency of muscleNeurology, 1975