P01.25: Cardiovascular score in the surveillance of fetal hydrops

Isolated ventricular non-compaction (IVNC), known as spongy ventricular myocardium, is a rare cardiomyopathy characterized by numerous ventricular trabeculations and deep intertrabecular recesses, due to an arrest in cardiac embryogenesis. The prognosis varies: from asymptomatic patients over progressive ventricular dysfunction, arrhythmias, systemic and pulmonary embolism to cardiac failure with neonatal demise. Prenatal diagnosis has been reported in less than 10 cases. We report a case of sonographic diagnosis of IVNC at 31.5 weeks’ gestation. First trimester screening revealed increased nuchal translucency but the parents declined invasive testing. Routine ultrasound at 31.5 weeks showed a marked cardiomegaly without other cardiac and extra-cardiac anomalies. Fetal 2D and 3D echocardiography revealed numerous trabeculations and deep intertrabecular recesses of both ventricles with restricted ventricular contractility and normal function of the AV-valves. Diagnosis of isolated ventricular non-compaction was made. Postnatal echocardiography confirmed the prenatal findings of IVCN with a dilated right and left ventricle. Contractility of the left ventricle was decreased. The parents declined any further genetic examinations, despite dysmorphic facial appearance, consanguinity and a family history of unknown metabolic disorder. At present the neonate is in a good condition and needs only inotropic support by oral therapy. Isolated ventricular non-compaction is a rare, but important differential in the diagnosis of left ventricular hypertrophy. IVNC has no associated cardiac lesions and persistent sinusoids are not seen. This congenital anomaly is a distinct entity of cardiomyopathy with a characteristic morphological pattern. Inheritance is both X linked (Xq28 region) and autosomal recessive. Prenatal diagnosis is made by echocardiography and color Doppler ultrasound, showing direct blood flow from the ventricular cavity into deep intertrabecular recesses.