Doppler fetal echocardiography in endocardial fibroelastosis.

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