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De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non‐Compaction and Metabolic Disturbances: A Rare Case Report
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De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non‐Compaction and Metabolic Disturbances: A Rare Case Report
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Journal Article
De Novo ACTN2 Variant in a Chinese Neonate With Left Ventricular Non‐Compaction and Metabolic Disturbances: A Rare Case Report
2026
Overview
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. This study reports a 2‐day‐old neonate whose echocardiographic features are consistent with LVNC. The patient exhibited severe metabolic abnormalities and experienced recurrent heart failure episodes temporally associated with these metabolic derangements. Genetic analysis revealed a de novo heterozygous ACTN2 exon 2–6 deletion (parents negative), classified as pathogenic (PVS1 + PS2 + PM2) according to American College of Medical Genetics guidelines. This mutation likely explains the patient's phenotype, supporting the diagnosis of ACTN2‐related LVNC combined with dilated cardiomyopathy and severe metabolic disturbances.
Publisher
John Wiley & Sons, Inc
Subject
/ ACTN2
/ Cardiomyopathy, Dilated - genetics
/ China
/ Cyanosis
/ Electrocardiography - methods
/ Exons
/ Genes
/ Heart
/ Humans
/ Isolated Noncompaction of the Ventricular Myocardium - diagnostic imaging
/ Isolated Noncompaction of the Ventricular Myocardium - genetics
/ left ventricular non‐compaction
/ Mutation
/ Neonates
/ Recesses
