Abstract
Dilated cardiomyopathy (DCM) is known to have ventricular dilatation and dysfunction in myocardium. Primary carnitine deficiency (PCD) is a not common but a reversible autosomal recessive phenomenon with supplementation of carnitine. Case presentation- 11-month male child was brought with complain of fever, cough, cold since 7 days and increased work of breathing for 15 days. 2 D echo was done suggestive of dilated cardiomyopathy. His initial investigations; chest Xray revealed significant cardiomegaly electrocardiography, (ECG) showed prolonged QT interval fraction. Patient was treated with syrup carnitine syrup empirically, as there is no way to determine a fatty acid oxidation profile. Repeated 2D echocardiogram (2 D ECHO) was suggestive of recovery. Conclusions: Carnitine deficiency could be the cause of cardiomyopathy and so treatment of carnitine supplementation can be considered empirically to avoid life-threatening complication related to cardiomyopathy.
Highlights
Childhood myopathy of heart is an uncommon disease
Type of cardiopathy with ventricular dilatation (DCM) is a diverse group of heart muscle disorder presented by heart chamber dilatation and distorted heart muscle function leading to cardiac failure
Tachycardia, increase in respiration during feeding, failure to thrive, breathlessness is some of common presentation seen in Dilated cardiomyopathy (DCM)
Summary
Childhood myopathy of heart is an uncommon disease It is classified into three variants, dilated, hypertrophic, and restrictive. An epidemiological study done in Finland by Arcola et al estimated case load of this cardiac disease in male child to be 0.34/1,00,000/year. Deficiency of carnitine which one is primary (PCD) is a very uncommon genetic disease. Affected gene is not dominant leading to its presentation rarely one in more than one lakh births Etiology of this hereditary disorder is due to mutations in the SLC22A5 gene, this gene is belong to chromosome 5q23.3. Deficiency of carnitine (CD) will lead to cardiac dysfunction like cardiomyopathy and arrhythmias. We thought of presenting this rare case of dilated cardiomyopathy infant, who recovered due to carnitine supplementation
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