Isolated Non-Compaction Cardiomyopathy

Background: Isolated non-compaction cardiomyopathy (NCCM) was first described in 1984. This disorder, a primary genetic cardiomyopathy, is now attracting increased attention. Method: The current state of the epidemiology, pathogenesis, pathophysiology, clinical features, diagnosis, treatment, and prognosis of NCCM are discussed on the basis of a review of selected literature as well as the authors personal experience. Results: The pathogenesis of NCCM is thought to involve a genetically determined disturbance of the myocardial compaction process during fetal endomyocardial morphogenesis. It is not accompanied by any other cardiac anomalies. Echocardiography is the diagnostic method of choice. The diagnosis is based on the following echocardiographic criteria: the presence of at least 4 prominent trabeculations and deep intertrabecular recesses, blood flow from the ventricular cavity into the intertrabecular recesses, and a typical bilaminar structure of the affected portion of the left ventricular myocardium. NCCM can also be diagnosed with magnetic resonance imaging of the heart. The clinical severity of NCCM is variable; its manifestations include heart failure, thromboembolic events, and arrhythmias. The treatment is symptom-based. Patients with symptomatic NCCM have a poor prognosis. Conclusion: NCCM is a type of cardiomyopathy that was first described 25 years ago. Its molecular genetic basis is not yet fully clear, and the same is true of its diagnosis, treatment, and prognosis. Further study of these matters is needed.