BACKGROUND: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital cardiomyopathy characterized by increased trabeculation in one or more segments of the ventricle. LVNC presented with non-specific symptoms and highly variable clinical presentation ranging from asymptomatic to progressive heart failure and recurrent or life-threatening arrhythmias.
METHODS: 54-year-old Black man with a history of hypertension, diabetes and end-stage renal disease presented with one day palpitations and lightheadedness following a dialysis session. He denied any dyspnea or syncope. On examination, blood pressure was 175/91 mmHg with irregular pulse. No murmur, rubs or gallops were appreciated. Laboratory were unremarkable except increased creatinine and mild anemia with normal thyroid function test. Electrocardiogram (ECG) revealed atrial fibrillation with normal ventricular rate. Transthoracic echocardiogram revealed mildly increased left ventricular (LV) wall thickness with prominent trabeculation and ejection fraction of 55-60 percent, a pseudo-normal LV filling pattern, with concomitant abnormal relaxation and increased filling pressure, suggestive of LVNC. The patient was switched to apixaban. Genetic testing was recommended for family members.
CONCLUSIONS: LVNC is rare congenital cardiomyopathy with non-specific symptoms and should be considered among the possible diagnosis in patients presenting with arrythmia patients. Echocardiographic and cardiac magnetic resonance imaging can be utilized to establish diagnosis.

Hypertrabeculation and noncompaction are congenital or acquired abnormalities of myocardial anatomy characterized by prominent trabeculations, intertrabecular recesses, and a thin outer epicardial compacted myocardial layer that are most clinically relevant when presenting as left ventricular noncompaction (LVNC) cardiomyopathy. Manifesting in isolation or in association with development or acquired cardiomyopathies, and primarily extracardiac genetic syndromes, LVNC predisposes patients to major cardiac and systemic complications, including cardioembolic disease, ventricular tachyarrhythmia, and sudden cardiac death. Improvements in cardiac imaging modalities such as echocardiography and magnetic resonance imaging have increased the identification of hypertrabeculation and LVNC, but overall rates of LVNC cardiomyopathy remain very low. We present a review on the embryonic pathogenesis of trabeculations and noncompaction, genetic and epidemiologic profiles of LVNC, clinical manifestations, diagnostic imaging strategies and criteria, and the approach to family medical genetic screening and management of the major complications of hypertrabeculation and LVNC cardiomyopathy.