Noncompaction of the Ventricular Myocardium
Noncompaction of the ventricular myocardium is a rare, familial congenital cardiomyopathy that results from incomplete compaction of the trabecular embryonic myocardium.134,135 The characteristic echocardiographic findings consist of multiple, prominent myocardial trabeculations and deep intertrabecular recesses communicating with the left ventricular cavity. The disease uniformly affects the left ventricle with or without concomitant RV involvement and results in systolic and diastolic ventricular dysfunction and clinical heart failure. Recent studies have characterized this disease in both children and adults. A higher incidence of Wolff-Parkinson-White syndrome was found in children, whereas left bundle branch block was more rare than reported in adults. Familial recurrence is high.136 Recently, a case of ventricular noncompaction was identified in a patient who also had a haplotype deletion on the long arm of chromosome 5.137 The affected region included the locus for the cardiac-specific homeobox gene Nkx2.5, suggesting an association between ventricular myocardial noncompaction and haploinsufficiency of Nkx2.5.
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