Canadian Journal of Cardiology
Case Report| Volume 36, ISSUE 10, P1690.e1-1690.e3, October 2020

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

Published:April 28, 2020DOI:


      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.


      Les maladies mitochondriales sont des perturbations métaboliques rares qui peuvent causer une cardiomyopathie hypertrophique. Nous décrivons ici le cas d’une fillette de 3 ans atteinte de maladie mitochondriale (mutation m.5559A>G du gène tRNATrp mitochondrial). L’échocardiographie a montré une hypertrophie du ventricule gauche associée à une hypertrophie septale (9 mm, score z = 3,26). La fillette a entamé une supplémentation en antioxydants associée à un régime cétogène (riche en matières grasses) et, comme attendu, son état neurologique s’est amélioré. De plus, à l’âge de 6 ans, ses paramètres cardiaques se sont améliorés et l’épaisseur de son septum interventriculaire s’est normalisée (6 mm, score z = 1,05). Dans cette observation clinique, nous supposons que le régime cétogène pourrait améliorer la cardiomyopathie hypertrophique dans le contexte de la maladie mitochondriale.
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        • El-Hattab A.W.
        • Scaglia F.
        Mitochondrial cardiomyopathies.
        Front Cardiovasc Med. 2016; 3: 25
        • Duff R.M.
        • Shearwood A.M.
        • Ermer J.
        • et al.
        A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.
        Mitochondrion. 2015; 25: 113-119
        • Paoli A.
        • Bianco A.
        • Damiani E.
        • Bosco G.
        Ketogenic diet in neuromuscular and neurodegenerative diseases.
        Biomed Res Int. 2014; 2014: 474296
        • Bertero E.
        • Maack C.
        Metabolic remodelling in heart failure.
        Nat Rev Cardiol. 2018; 15: 457-470
        • Ferrannini E.
        • Mark M.
        • Mayoux E.
        CV Protection in the EMPA-REG OUTCOME trial: a “thrifty substrate” hypothesis.
        Diabetes Care. 2016; 39: 1108-1114