Isolated noncompaction of the myocardium: an exceedingly rare cardiomyopathy. A case report

Isolated noncompaction of the left ventricular myocardium is a rare cardiac disorder due to an arrest in myocardial morphogenesis. It is characterized by prominent and excessive trabeculation in a ventricular wall segment, with deep intertrabecular spaces perfused from the ventricular cavity. Echocardiographic findings are important clues for the diagnosis. Clinical symptoms include signs of left ventricular systolic dysfunction even to the point of heart failure, ventricular arrhythmias, and embolic events. We describe an adult case in whom the only clinical symptoms were life-threatening ventricular arrhythmias. Transthoracic echocardiography did not contribute to the diagnosis, which was made thanks to left ventricular contrast angiography. Electrophysiological testing induced a fast monomorphic sustained ventricular tachycardia, with hemodynamic impairment, that was refractory to pharmacological treatment, and for this reason a permanent cardioverter-defibrillator was implanted. A subsequently performed transesophageal echocardiographic examination showed a localized, regional increase in left ventricular wall thickness and degree of trabeculation. The causes and electrophysiological mechanisms of arrhythmias in noncompaction are still unknown: grossly irregular branching and connecting of myocardial fascicles in the noncompacted segments, isometric contraction with increased wall stress, and localized coronary perfusion impairment can all induce disorganized or delayed activation and increase the potential for arrhythmias. This is the first reported case of noncompaction in which an implantable defibrillator was used to control life-threatening arrhythmias.