Abstract
Familial occurrence of EFE suggests an inborn error of myocardial metabolism. We studied a family in which 4 of 5 sibs had EFE, apparently due to systemic carnitine deficiency(SCD). 3 of 5 died suddenly before age 3 with EFE at autopsy. Abnormal mitochondria were found in skeletal and cardiac muscle of the 3rd. The surviving 4th sib with EFE, without muscle weakness had a plasma carnitine level(PCL)of 4.8mcM/L(Nl,50±10), skeletal muscle carnitine level(MCL)of 30nM/gm(Nl,5000). On oral L-carnitine,(L-carnitine supplied by Sigma-Tau, Rome, Italy) PCL rose to 43.7mcM/L, exercise tolerance improved, mitral insufficiency resolved, ST-T changes partially reversed. Retrospective study of the 3rd sib's tissue found a serum CL of 4.5mcM/L, MCL of 30.9nM/gm, cardiac CL of 56.8nM/gm(Nl,5000), liver CL of 120.7 nM/gm(Nl,400). A 5th sib and the parents have low Nl PCL.
Cardiac metabolism is almost entirely aerobic, with mitochondrial oxidation of fatty acids providing over 65% of energy supply. Carnitine is required for fatty acid transport into mitochondria. Deficiency causes fatty deposits in cytoplasm and depressed mitochondrial function. EFE may result from lowered cardiac mitochondrial activity with inadequate oxidative phosphorylation causing-poor myocardial contractility, compensatory dilatation and hypertrophy, subendocardial ischemia and fibrosis. PCL and muscle biopsy are indicated in EFE to exclude SCD, a treatable cause of cardiomyopathy.
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Tripp, M., Kateher, M., Peters, H. et al. 204 SYSTEMIC CARNITINE DEFICIENCY PRESENTING AS FAMILIAL ENDOCARDIAL FIBROELRSTOSIS (EFE). Pediatr Res 15 (Suppl 4), 473 (1981). https://doi.org/10.1203/00006450-198104001-00213
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DOI: https://doi.org/10.1203/00006450-198104001-00213