Left Ventricular Non-Compaction Syndrome Misdiagnosed as Dilated Cardiomyopathy on Several Occasions, Presenting With...

A 57-year-old African American female with a history of ischemic cardiomyopathy and a recent stroke with no residual deficits presented with apraxia and confusion. Non-contrast CT scan of the head revealed multiple embolic strokes in both cerebral hemispheres. Transthoracic echocardiography raised the suspicion for increased trabecular meshwork in the left ventricle. Cardiac MRI confirmed the findings of isolated left ventricular non-compaction (LVNC) syndrome. A contrast-enhanced transesophageal echocardiogram demonstrated the characteristic features of this unusual disease with the additional demonstration of contrast filling the trabecular meshwork. Interestingly multiple transthoracic echocardiograms in the past had failed to identify myocardial non-compaction. The patient was started on warfarin for prophylactic anticoagulation and an implantable defibrillator was placed to lower the risk of sudden death. LVNC is a rare type of genetic cardiomyopathy characterized by excessively prominent trabeculations and deep inter-trabecular recesses in the ventricle wall. Non-compaction remains frequently overlooked even by experienced echocardiographers. Failure to diagnosis may lead to insufficient treatment since it is often associated with a risk of thromboembolism, life-threatening arrhythmias and sudden death. Furthermore, because of the familial association described with ventricular non-compaction, screening of first relatives with echocardiography is recommended.