Prenatal diagnosis of isolated ventricular noncompaction of the myocardium

Isolated ventricular noncompaction (IVNC), also known as spongy ventricular myocardium, is a rare cardiomyopathy characterized by numerous ventricular trabeculations and deep intertrabecular recesses, thought to be due to an arrest in cardiac embryogenesis. The clinical spectrum varies from asymptomatic patients to cardiac failure with neonatal death. Prenatal diagnosis has been reported sporadically. We report a case of IVNC diagnosed prenatally at 31.5 weeks' gestation. First-trimester screening revealed increased nuchal translucency, but the parents declined invasive prenatal diagnosis. Routine sonography at 31.5 weeks showed marked cardiomegaly with no other anomalies. Fetal echocardiography revealed numerous trabeculations and deep intertrabecular recesses within the cardiac ventricular myocardium. Diagnosis of ventricular noncompaction was made. Postnatal echocardiography confirmed the diagnosis and showed suboptimal left ventricular function. Isolated ventricular noncompaction is rare but needs to be considered in the differential diagnosis of left ventricular hypertrophy. Isolated ventricular noncompaction can be associated with other cardiac and extracardiac disorders, particularly neuromuscular. Diagnosis is made by echocardiography and color Doppler sonography, showing direct blood flow from the ventricular cavity into deep intertrabecular recesses.