Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy

ME Tripp, ML Katcher, HA Peters… - New England journal …, 1981 - Mass Medical Soc
ME Tripp, ML Katcher, HA Peters, EF Gilbert, S Arya, RJ Hodach, AL Shug
New England journal of medicine, 1981Mass Medical Soc
ENDOCARDIAL fibroelastosis is a cardiomyopathy of unknown origin that affects infants and
young children. It is characterized by poor myocardial contractility with hypertrophy and
dilatation of the heart, especially of the left ventricle. At autopsy, a milky-white thickening of
the endocardium is found. 1 Because similar endocardial thickening is seen in congenital
cardiac anomalies complicated by subendocardial ischemia (eg, aortic atresia), it has been
suggested that endocardial fibroelastosis may be related to myocardial hypoxia. 2 Familial …
ENDOCARDIAL fibroelastosis is a cardiomyopathy of unknown origin that affects infants and young children. It is characterized by poor myocardial contractility with hypertrophy and dilatation of the heart, especially of the left ventricle. At autopsy, a milky-white thickening of the endocardium is found.1 Because similar endocardial thickening is seen in congenital cardiac anomalies complicated by subendocardial ischemia (e.g., aortic atresia), it has been suggested that endocardial fibroelastosis may be related to myocardial hypoxia.2 Familial cases suggest that the disease may result from a genetically transmitted abnormality affecting cardiac metabolism.3 The cardiac tissue in congestive cardiomyopathy contains increased numbers of mitochondria, . . .
The New England Journal Of Medicine