Turk Kardiyol Dern Ars. 2022; 50(7): 535-539 | DOI: 10.5543/tkda.2022.21319
Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
Meral Kayıkçıoğlu1, Benay Özbay2, Burcu Yağmur1, Ebru Canda2, Selen Bayraktaroğlu4, Evrim Şimşek1, Sema Kalkan Uçar31Department of Cardiology, Ege University Faculty of Medicine, İzmir, Turkey
2Department of Cardiology, Başakşehir Çam and Sakura State Hospital, İstanbul, Turkey
3Department of Pediatric Metabolic Disorders, Ege University Faculty of Medicine, İzmir, Turkey
4Department of Radiology, Ege University Faculty of Medicine, İzmir, Turkey
Non-ischemic dilated cardiomyopathy is the most common subgroup of heart failure in young adults. Several metabolic defects could be the underlying etiology in these young heart failure patients. However, most cases are considered idiopathic. Primary carnitine deficiency is an overlooked inherited metabolic disease causing cardiomyopathy in these patients. Oral carnitine replacement therapy could prevent primary carnitine deficiency patients from progressing to advanced heart failure and life-threatening arrhythmias. In this case report, we present an index primary carnitine deficiency case and his brother’s diagnosis and successful treatment period to draw attention to primary carnitine deficiency as a treatable cause of heart failure in young adults.
Keywords: Cardiomyopathy, carnitine deficiency, heart failure, rare disease
Corresponding Author: Meral Kayıkçıoğlu
Manuscript Language: English