Reversible Cardiomyopathy, What Should the Clinicians Keep in Mind? A Case Report

Abdulmajeed A Alzahrani; Saud A Bahaidarah; Zuhair N Al-Hassnan; Gaser A Abdelmohsen

doi:10.37616/2212-5043.1339

Reversible Cardiomyopathy, What Should the Clinicians Keep in Mind? A Case Report

J Saudi Heart Assoc. 2023 May 27;35(2):144-147. doi: 10.37616/2212-5043.1339. eCollection 2023.

Authors

Abdulmajeed A Alzahrani¹, Saud A Bahaidarah², Zuhair N Al-Hassnan³, Gaser A Abdelmohsen^{2

4}

Affiliations

¹ Cardiac Surgery Division, Department of Surgery, King Abdulaziz University Hospital, P.O.BOX: 80215, Jeddah, 21589, Saudi Arabia.
² Pediatric Cardiology Division, Department of Pediatrics, King Abdulaziz University Hospital, P.O.BOX: 80215, Jeddah, 21589, Saudi Arabia.
³ Center of Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁴ Pediatric Cardiology Division, Department of Pediatrics, Kasr Al Ainy School of Medicine, Cairo University, 99 El-Manial St., Cairo, 11451, Egypt.

Abstract

Primary carnitine deficiency (PCD) is an autosomal recessive disorder characterized by decreased carnitine levels essential for Beta oxidation in various organs, including the heart. Early diagnosis and treatment of PCD can revert cardiomyopathy. A 13-year-old girl presented with heart failure due to dilated cardiomyopathy and severe cardiac dysfunction; following L carnitine treatment, the patient's clinical conditions improved, and cardiac functions returned to normal within weeks. Investigations revealed PCD; regular L carnitine has been provided, all cardiac medications are discontinued, and the patient is doing well. We believe PCD should be ruled out in every patient with cardiomyopathy.

Keywords: Carnitine supplementation; Case report; Dilated cardiomyopathy; Primary carnitine deficiency.