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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.<\/jats:p>","DOI":"10.1017\/s1047951124025095","type":"journal-article","created":{"date-parts":[[2024,5,16]],"date-time":"2024-05-16T04:20:54Z","timestamp":1715833254000},"page":"1393-1396","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":3,"title":["Mitochondrial cardiomyopathy: a puzzle for the final diagnosis"],"prefix":"10.1017","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3677-8212","authenticated-orcid":false,"given":"Andreia Duarte","family":"Constante","sequence":"first","affiliation":[{"name":"Hospital de Santa Marta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9647-183X","authenticated-orcid":false,"given":"Susana Martins","family":"Abreu","sequence":"additional","affiliation":[{"name":"Hospital de Santa 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