Fetal and Neonatal Presentation of Noncompacted Ventricular Myocardium: Expanding the Clinical Spectrum

Abstract

Noncompaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by varying degrees of ventricular dysfunction and numerous, prominent trabeculations with deep intertrabecular recesses caused by arrest in myocardial embryogenesis. NCVM is rarely described in fetal and neonatal patients, and only isolated reports exist to date. We conducted a review of clinical and echocardiographic data from 6 neonates found to have NCVM to elucidate aspects of prenatal manifestations, initial presentations, and clinical course/outcome. Six neonates met criteria for diagnosis of NCVM. Five were initially evaluated during fetal life, whereas one patient presented for initial cardiology examination as a neonate. Three of the 5 fetuses had NCVM recognized at the initial examination. Both unrecognized fetuses also had severe prenatal left ventricular dilation and dysfunction. Left ventricular enlargement or increased wall thickness with decreased ejection fraction was evident in all patients at presentation. Mean ejection fraction at presentation was 36% and improved to 57% during an average follow-up of 2 years. Associated congenital cardiac anomalies were noted in 3 patients. After initial improvement, two patients had transient, late decreases in ejection fraction, which improved with medication adjustment. There have been no deaths. Fetuses with enlarged and poorly functioning left ventricles should be evaluated for NCVM, which may not be easily recognized on initial fetal studies. Unlike previous reports of neonatal NCVM, all 6 neonates, including the 3 requiring inotropic support, showed significant early recovery of cardiac function with aggressive therapy.