Reversal of Cardiac Hypertrophy With a Ketogenic Diet in a Child With Mitochondrial Disease and Hypertrophic Cardiomyopathy.

Abstract

Mitochondrial diseases are rare metabolic disorders that can cause hypertrophic cardiomyopathy. Herein we describe the case of a 3-year-old girl diagnosed with mitochondrial disease (mutation m.5559A>G in the mitochondrial-tRNATrp gene). Echocardiography showed left ventricular hypertrophy with an enlarged septum (9 mm, z score = 3.26). Antioxidant supplementation associated with a high-fat ketogenic diet was introduced and, as expected, improved neurologic status. In addition, heart parameters improved with normalisation of interventricular septum thickness at 6 years of age (6 mm, z score = 1.05). In this case report, we suggest that a ketogenic diet may improve hypertrophic cardiomyopathy in the context of mitochondrial disease.

• Authors: Emilie Deberles, Pascale Maragnes, Marie-José Penniello-Valette, Stéphane Allouche, Michael Joubert
• Journal: The Canadian journal of cardiology (Can J Cardiol) Vol. 36 Issue 10 Pg. 1690.e1-1690.e3 (10 2020) ISSN: 1916-7075 [Electronic] England
• PMID: 32360196 (Publication Type: Case Reports)
• Copyright: Copyright © 2020 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Chemical References

• RNA, Mitochondrial
• RNA, Transfer, Trp

Topics

• Cardiomyopathy, Hypertrophic (diagnostic imaging, diet therapy, etiology)
• Child, Preschool
• Diet, Ketogenic (methods)
• Echocardiography (methods)
• Female
• Heart Ventricles (diagnostic imaging)
• Humans
• Mitochondrial Diseases (diet therapy, genetics, physiopathology)
• Monitoring, Physiologic (methods)
• Mutation
• RNA, Mitochondrial (genetics)
• RNA, Transfer, Trp (genetics)
• Sequence Analysis, RNA (methods)
• Treatment Outcome