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Mitochondrial cardiomyopathy: a puzzle for the final diagnosis

Published online by Cambridge University Press:  16 May 2024

Andreia Duarte Constante Open the ORCID record for Andreia Duarte Constante [Opens in a new window] ,
Susana Martins Abreu Open the ORCID record for Susana Martins Abreu [Opens in a new window]  and
Conceição Trigo
Andreia Duarte Constante*
Affiliation:
Pediatric Cardiology Department, Hospital de Santa Marta, Lisboa, Portugal
Susana Martins Abreu
Affiliation:
Pediatric Cardiology Department, Hospital de Santa Marta, Lisboa, Portugal
Conceição Trigo
Affiliation:
Pediatric Cardiology Department, Hospital de Santa Marta, Lisboa, Portugal
*
Corresponding author: A. D. Constante; Email: andreiaduarteconstante@gmail.com
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Abstract

Hypertrophic cardiomyopathy in children has diverse causes. Mitochondrial diseases, a rare aetiology leading to cardiomyopathy in 20–40% of affected children, predominantly present as hypertrophic cardiomyopathy. Diagnosis is challenging due to inconsistent genotype-phenotype correlation, resulting in various clinical presentations. We present a case of a one-month-old infant with severe hypertrophic cardiomyopathy and cardiac tamponade. Genetic diagnosis revealed a Valyl-tRNA synthetase 2 (VARS2) gene mutation, linking it to mitochondrial encephalopathy-cardiomyopathy. This case highlights novel variants and expands the understanding of hypertrophic cardiomyopathy aetiology in infants.

Keywords

hypertrophic cardiomyopathymitochondrial diseasesVARS2
Type
Brief Report
Information
Cardiology in the Young , First View , pp. 1 - 4
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Copyright
© The Author(s), 2024. Published by Cambridge University Press

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