What question did this study set out to answer?

To present a rare case of neonatal left ventricular non-compaction (LVNC) associated with severe metabolic disturbances and a de novo ACTN2 variant.

January 22, 2026Open Access

De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non‐Compaction and Metabolic Disturbances: A Rare Case Report

Key Result

Management of a neonate with ACTN2-related left ventricular non-compaction and severe metabolic disturbances improved cardiac function after metabolic correction and heart failure therapy.

Key Points

To present a rare case of neonatal left ventricular non-compaction (LVNC) associated with severe metabolic disturbances and a de novo ACTN2 variant.
Described the clinical presentation of a 2-day-old neonate with LVNC and multiple metabolic issues.
Detailed management strategies including mechanical ventilation and metabolic correction.
Conducted genetic analysis to identify the ACTN2 variant.
Neonate exhibited severe heart failure due to LVNC and metabolic disturbances.
Genetic analysis revealed a de novo pathogenic ACTN2 deletion.
Management led to improved cardiac function post-intervention.

Structured PICO

Population

1 Chinese neonate (2-day-old) with left ventricular non-compaction (LVNC) and dilated cardiomyopathy, presenting with recurrent heart failure associated with hyperkalemia, metabolic acidosis, hyperlactatemia, and hypoglycemia.

Intervention

Mechanical ventilation, metabolic correction, and heart failure therapy

A de novo ACTN2 deletion was identified in a neonate with LVNC and metabolic disturbances, expanding the phenotypic spectrum of ACTN2-related cardiomyopathies.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

ABSTRACT Left ventricular non‐compaction (LVNC) is a rare cardiomyopathy characterized by prominent trabeculations and deep recesses. Neonatal cases, particularly with severe metabolic disturbances, are uncommon. We report a 2‐day‐old neonate with LVNC and dilated cardiomyopathy, presenting recurrent heart failure associated with hyperkalemia, metabolic acidosis, hyperlactatemia, and hypoglycemia. Management included mechanical ventilation, metabolic correction, and heart failure therapy, leading to improved cardiac function. Genetic analysis revealed a de novo heterozygous pathogenic ACTN2 deletion spanning exons 2–6. This case broadens the phenotypic spectrum of ACTN2 ‐related LVNC and suggests a potential link between metabolic disturbances and cardiac deterioration.