Echocardiographic differentiation of atrioventricular septal defects from inlet ventricular septal defects and mitral valve clefts.

Left ventricular inlet/outlet ratio and percent left atrioventricular valve (AVV) guarded by the posterior leaflet are valuable for characterizing atrioventricular septal defect (AVSD). We performed these measurements echocardiographically in normal patients (n = 101), patients who had AVSD (n = 37), those who had isolated perimembranous inlet ventricular septal defect (VSD; n = 12), and those who had "isolated" mitral valve clefts (n = 5). Surgical findings of 38 patients were reviewed. The normal inlet/outlet ratio was 1.03 +/- 0.07. For patients who had AVSD, the ratio was 0.82 +/- 0.06 (95% confidence interval [CI] 0.180 to 0.237, p = 0.001). For patients who had an isolated inlet VSD, this ratio was lower than that in normal patients (0.93 +/- 0.08, 95% CI 034 to 0.116, p = 0.001) but higher than that in patients who had AVSD (95% CI -0.175 to 0.091, p = 0.001). The percent left AVV guarded by the posterior leaflet was 56 +/- 1.4 in normal patients. For patients who had AVSD, it was significantly lower (43 +/- 1.1). For patients who had an isolated VSD and those who had an isolated mitral cleft, it was normal (57 +/- 1.9 and 55 +/- 2.2, respectively). The 2 measurements are valuable in differentiating AVSD from inlet VSD and isolated mitral cleft, but percent left AVV guarded by the posterior leaflet is more specific.

Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function.

Noncompaction of the ventricular myocardium is an embryonic cardiomyopathy that is increasingly being recognized. Mitral regurgitation, when present, is usually a result of the associated left ventricular systolic dysfunction. We report 4 patients with noncompaction of the ventricular myocardium in whom ventricular systolic function was preserved. Mitral regurgitation was associated with changes in the mitral valve leaflets and an abnormal coaptation pattern. This association of noncompaction of the ventricular myocardium with mitral regurgitation has not, to our knowledge, been reported.

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

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.