Echogenic intracardiac focus – existence in the first trimester and the role of microRNAs

Abstract

Echogenic intracardiac focus (EIF) constitutes a finding in the ultrasound study that indicates an area which is echogenically bright in the fetal heart and is as bright as the bone that moves synchronically to the atrioventricular valves. Microcalcifications of the papillary muscles or chordae tendinae are being represented by this echogenicity and are mostly present in the left ventricle (90% of cases). EIF appears usually at the ultrasound that is realized in the mid-trimester in a percentage that reaches 3.5% in euploid fetuses and 15% to 30% in fetuses with trisomy 21. In the current paper, the rare and curious case of a 21-year-old primigravida woman is described, who presented for ultrasound scan at the 12th week of gestation. The scan revealed the presence of EIF, which is very rare, as it is well-known that it usually appears in the second trimester of pregnancy. Counseling and debriefing for dismissing parents’ anxiety is necessary as well as further examinations, because EIF has low sensitivity. This specific case report could constitute a beginning in the research of whether investigating EIF in the first trimester of pregnancy is possible and which are the benefits of its detection for the mother, the fetus and the whole family, in clinical practice.