Echocardiographic Evaluation of Noncompaction Cardiomyopathy - Rare case report and literature review

Abstract

Left ventricular non-compaction (LVNC) represents a diverse myocardial condition marked by exaggerated trabeculations extending into the left ventricular cavity and deep intertrabecular recesses. This pathology may occur as an isolated entity or in association with other cardiomyopathies. Its recognition in pediatric populations has increased, largely owing to advancements in cardiac imaging. The etiological spectrum of LVNC is broad, encompassing both hereditary and acquired mechanisms. Clinical presentation ranges widely: while some individuals remain asymptomatic, others exhibit manifestations such as heart failure, arrhythmias, or systemic embolic events. Diagnosis is predominantly based on structural cardiac assessment through imaging modalities, primarily echocardiography and cardiac magnetic resonance. Echocardiography remains the cornerstone for evaluating LVNC, with 2-dimensional, 3-dimensional, color Doppler, and contrast-enhanced techniques playing essential roles in both diagnosis and family screening. Although computed tomography and magnetic resonance imaging serve as additional diagnostic options, current evidence does not conclusively demonstrate their superiority over echocardiography. In this report, we describe a 2-month-old infant diagnosed with LVNC accompanied by severe left ventricular systolic dysfunction and marked pulmonary hypertension. A detailed transthoracic echocardiography (TTE) was performed to establish the definitive diagnosis.

Keywords: Cardiomyopathy, Echocardiography, Left ventricular noncompaction, Cardiomyopathy, Myocardial disorder, Intertrabecular recesses.