Left ventricular non-compaction (LVNC) is a rare disorder of endomyocardial 
morphogenesis that results in multiple trabeculations and deep intertrabecular 
recesses filled with direct blood flow from the left ventricular cavity. LVNC is 
attracting increasing interest as a model for the study of cardiomyopathies, 
since it is a genetically heterogeneous disorder which varies greatly in 
clinical presentation and age of onset. The authors present the case of a young 
black male with progressive congestive heart failure of 2-3 years' evolution. 
The investigation, which included transthoracic echocardiography (contrast and 
3D), transesophageal echocardiography and cardiac magnetic resonance imaging, 
showed LVNC and severe aortic regurgitation, with severe left ventricular 
systolic dysfunction. The family history was suggestive of genetically 
transmitted disease and genetic study of the TAZ gene at locus Xq28 identified 
the mutation p.Phe128Ser (c.383T>C), the first description of this mutation in a 
patient with LVNC. The patient underwent aortic valve replacement, with 
excellent clinical evolution, regression of left ventricular dimensions and 
global systolic functio Aortic regurgitation (not related to LVNC) was the 
determining factor in the clinical expression. However, the excellent reverse 
remodeling that occurred after surgery highlights the heterogeneity of 
myocardial behavior in LVNC patients.