March 3, 2026Open Access

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

Key Points

Cardiac manifestations may signal serious issues in neonatal MCAD deficiency, indicating urgent intervention.
This study identifies tachycardiomyopathy-like features as a novel phenotype associated with MCADD.

Structured PICO

Population

Neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency presenting with a tachycardiomyopathy-like phenotype

Intervention

Metabolic treatment

Neonatal MCAD deficiency can present with a tachycardiomyopathy-like phenotype that is reversible with prompt metabolic treatment.

Abstract

Early diagnosis and prompt initiation of metabolic treatment are essential to reverse potentially life-threatening cardiac manifestations in MCADD. This report highlights a novel phenotype and expands the clinical spectrum of neonatal-onset MCADD.

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

Key Points

Structured PICO

Abstract

Cite This Study