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.
Résumé
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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References
- Mitochondrial cardiomyopathies.Front Cardiovasc Med. 2016; 3: 25
- 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
- Ketogenic diet in neuromuscular and neurodegenerative diseases.Biomed Res Int. 2014; 2014: 474296
- Metabolic remodelling in heart failure.Nat Rev Cardiol. 2018; 15: 457-470
- CV Protection in the EMPA-REG OUTCOME trial: a “thrifty substrate” hypothesis.Diabetes Care. 2016; 39: 1108-1114
Article info
Publication history
Published online: April 28, 2020
Accepted:
April 22,
2020
Received:
January 31,
2020
Footnotes
See page 1690.e2 for disclosure information.
Identification
Copyright
© 2020 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
