Key result
Primary carnitine deficiency manifests with variable cardiomyopathy, with heterozygous carriers also showing cardiac involvement.
Why the study?
Autosomal recessive primary carnitine deficiency can present with variable phenotypes including cardiomyopathy and myopathy, and heterozygotes may show heart involvement.
Case Report (n=2)
May prompt carnitine testing in unexplained cardiomyopathy; leaves open heterozygote screening utility.
Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no cardiomyopathy. Uptake of carnitine by cultured fibroblasts was negligible in both patients. Vmax for carnitine transport was reduced to 50% of controls' value in the parents and one brother (who had hypertrophic cardiomyopathy) of the first patient. A brother of the second non-cardiopathic patient died at an early age with autopsy findings of a dilated cardiomyopathy and low cardiac carnitine. Autosomal recessive primary carnitine deficiency can express a variable phenotype in different families as well as within the same family. Heterozygotes can manifest heart involvement.
No takes yet. Share an insight, caveat, or question.
Garavaglia et al. (1991) conducted a case report in Primary carnitine deficiency (n=2). Primary carnitine deficiency vs. Healthy controls (for carnitine transport) was evaluated. Autosomal recessive primary carnitine deficiency expresses a variable phenotype including cardiomyopathy and myopathy, and heterozygotes can manifest heart involvement with reduced carnitine transport.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: