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Article

Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype.

European journal of medical genetics - 1 Mar 2026

Morana Elisabetta, Baronio Federico, Lanari Marcello, Candela Egidio, Ortolano Rita, Bonetti Simone, Bronzetti Gabriele, Biasucci Giacomo, Hasan Tammam, Ragni Luca, Donti Andrea

Abstract excerpt

BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common fatty acid oxidation disorder in Europe. Clinical onset typically occurs between 3 and 24 months of life with hypoketotic hypoglycemia, while neonatal presentations are less common. Although the disorder classically manifests with metabolic decompensation, atypical cardiac involvement has occasionally been reported but remains...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41611076
DOI: 10.1016/j.ejmg.2026.105070

Genes

ACADM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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