Pathologic correlation of sonographic echogenic foci in the fetal heart.

The goal of the current paper is to present, on the basis of six investigated fetal hearts, the pathological substrate of prenatally, sonographically diagnosed echogenic intramyocardial foci. The right ventricle, left ventricle, interventricular septum and papillary muscles of both ventricles of six hearts of the fetuses of high-risk pregnant women showing sonographically diagnosed intramyocardial echogenic foci were investigated. At termination of pregnancy all the women were between the 20th and the 24th week of gestation. Of the six cases, four were induced abortions and two were spontaneous abortions. For the control group we investigated the hearts of two fetuses without heart defects at the 22nd and 23rd week of gestation which had proven extracardial anomalies and a normal karyotype. Both cases were induced abortions which prenatally showed no echogenic cardiac foci. In all eight cases a prenatal karyotyping was performed. In the six cases with echogenic foci the location and number of the foci were determined both prenatally and by means of histologic sections; the size of the foci was measured as well. Histological staining was with routine haematoxylin-eosin; Masson-Goldner was used for connective tissue; Kossa for calcification; and Berlin blue for haemosiderin. Histologically, in all six cases, intramyocardial calcifications surrounded by fibrotic tissue were in: papillary muscle of the left ventricle in six cases; papillary muscle of the right ventricle in one case; and the subendocardial myocardium of the right ventricle in one case. Four cases had one, one case had two and one case had three calcified foci. Three cases had cardiac and two cases had extracardiac anomalies. Four cases had chromosome anomalies: two were trisomy 21, one trisomy 13 and one triploidy. The remaining two cases had a normal karyotype. No case showed pathological changes of the chordae tendinae, myocardial cell necrosis or inflammation. There were no patho-morphological differences between the intramyocardial calcifications of the papillary muscles in cases with chromosome anomalies and with normal karyotype. As the patho-morphological correlate of the sonographically diagnosed echogenic foci, histological investigation on all six fetal hearts showed coarse intramyocardial calcifications surrounded by myocardial fibrosis. Conventional histological methods gave no indication of the cause of the intramyocardial calcifications. Copyright 2000 John Wiley & Sons, Ltd.