Doppler fetal echocardiography in endocardial fibroelastosis

Endocardial fibroelastosis is a congenital heart disease known to cause congestive heart failure in early infancy. We report a case using new modalities for early prenatal diagnosis of endocardial fibroelastosis causing fetal heart failure.

A multipara with two children, who died of endocardial fibroelastosis, was referred for fetal echocardiography at 20 weeks' gestation. A mildly asymmetric four-chamber view with slightly enlarged atria and no other fetal heart abnormalities suggested endocardial fibroelastosis. Doppler studies demonstrated abnormal cardiac function with extremely low atrioventricular E/A ratio, defined as the ratio between the rapid ventricular filling (E wave) and the atrial systole (A wave), and abnormal venous flow velocity waveforms establishing the diagnosis. On a repeat scan 2 weeks later, the abnormal morphologic signs suggesting endocardial fibroelastosis were more prominent, and pregnancy was terminated.

When morphologic signs are not definitive, Doppler studies of the fetal heart may be useful in making the diagnosis of endocardial fibroelastosis.