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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. Copyright © 2020 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.


Emilie Deberles, Pascale Maragnes, Marie-José Penniello-Valette, Stéphane Allouche, Michael Joubert. Reversal of Cardiac Hypertrophy With a Ketogenic Diet in a Child With Mitochondrial Disease and Hypertrophic Cardiomyopathy. The Canadian journal of cardiology. 2020 Oct;36(10):1690.e1-1690.e3

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PMID: 32360196

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