Dilated Cardiomyopathy (DCM) in an Infant Due to Primary Carnitine Deficiency (PCD); A Rare Case
Varsha Gajbhiye
Department of Pharmacology, Datta Meghe Medical College, Nagpur, India.
Shubhangi Patil
Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences Sawangi (Meghe), Wardha, India.
Sarika Gaikwad
Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences Sawangi (Meghe), Wardha, India.
Sushma Myadam
Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences Sawangi (Meghe), Wardha, India.
*Author to whom correspondence should be addressed.
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.
Keywords: Restrictive cardiomyopathy, hypertrophic cardiomyopathy, fatty acid oxidation profile, cardiomegaly