Isolated left ventricular non-compaction (LVNC) is a rare genetic form of 
cardiomyopathy (CM) characterized by prominent left ventricular wall 
trabeculation and intertrabecular recesses communicating with the ventricular 
cavity. Clinical signs are variable, ranging from lack of symptoms to severe 
manifestations including heart failure, sustained ventricular arrhythmias, 
cardioembolism and sudden death. The diagnosis of LVNC is frequently missed, due 
to limited awareness in the medical community. Contemporary diagnostic 
sensitivity has been enhanced by the introduction of specific morphologic 
criteria by high resolution echocardiography and cardiac magnetic resonance. As 
a consequence, LVNC has been diagnosed more frequently in association with other 
disorders such as congenital heart disease or genetic CM. The clinical relevance 
of regional non-compaction in the context of other cardiac diseases is still 
uncertain. Recent evidence points to an overlapping genetic background 
encompassing LVNC, hypertrophic and dilated CM, suggesting a continuum of 
disease associated with sarcomere protein gene mutations. This concept may prove 
relevant to the understanding of common pathogenetic mechanisms of CM and offer 
novel research opportunities.