Noncompaction cardiomyopathy in children with congenital heart disease: evaluation using cardiovascular magnetic resonance imaging.

Noncompaction of the left ventricle, a genetic cardiomyopathy with a reported incidence of 0.05% to 0.24%, can lead to sudden cardiac death, particularly among children, if left undetected. Because the diagnosis of isolated noncompaction cardiomyopathy (NCM) can be overlooked, its association with other congenital heart diseases (CHDs) makes the diagnosis of NCM even more difficult. This study aimed to assess the impact of NCM on the cardiovascular physiology of children with coexisting CHDs evaluated by cardiovascular magnetic resonance imaging. A case-control study was performed with 12 children (6 patients with combined NCM and CHD and 6 control subjects with isolated CHD). The mean left ventricular end-diastolic and end-systolic volume indices were significantly higher in the CHD patients presenting with NCM than in the CHD patients with no NCM (P = 0.028). However, no differences were observed for right ventricular end-diastolic and end-systolic volume indices, biventricular ejection fractions, stroke volumes and indices, left ventricular wall thickness, left ventricular fractional shortening, cardiac output, or cardiac index. This study suggests that NCM in children with CHDs increases left ventricular volumes, and larger studies are required to demonstrate other changes (e.g., ejection fraction, stroke volume) that were close to being significant.