The variable clinical presentation of, and outcome for, noncompaction of the ventricular myocardium in infants and children, an under-diagnosed cardiomyopathy

Abstract

Noncompaction of the ventricular myocardium is increasingly recognized as an important cause of cardiomyopathy. Its echocardiographic definition, however, is not yet clearly refined, and differentiation from other conditions with hypertrabeculation can be difficult. We report a prospective short-term follow-up of 15 children with noncompaction, excluding those with associated complex congenital cardiac disease. The clinical presentation and outcome were variable, with 2 patients being asymptomatic. For 5 patients, presentation was with cardiac failure due to depressed myocardial function. The function deteriorated in two, remained the same in two, and improved in the other patient. Cardiac failure due to mitral regurgitation was the mode of presentation in 2 patients with preserved myocardial function, one of whom needed replacement of the mitral valve. In 6 patients (40%), symptoms of cardiac failure were due to noncomplex congenital cardiac disease. All of them had ventricular septal defects. In addition, two had cleft mitral valves, and one had a large persistently patent arterial duct. The diagnosis of noncompaction was initially missed on more than one echocardiographic study in one-third of our patients. We conclude that noncompaction is under-diagnosed, and is not as rare as is thought. In children, it is often associated with other cardiac lesions that can cause cardiac failure in the presence of preserved myocardial function.