Golfballphänomen
Echogenic intracardiac focus (EIF) is a relatively common sonographic observation that may be present on an antenatal ultrasound scan.
Epidemiology
They are thought to be present in ~4-5% of karyotypically normal fetuses. They may be more common in the Asian population .
Pathology
They are considered to represent mineralization within the papillary muscles.
Location
The majority of echogenic intracardiac foci are unilateral. Out of all the cardiac chambers, the left ventricle is the most frequent in terms of location.
Associations
- trisomy 21 (Down syndrome): may be present in up to 12% of fetuses with trisomy 21
- trisomy 13
The tightness of the association between an isolated EIF and aneuploidy continues to be debated. Biventricular EIFs are considered to be a higher risk for aneuploidy.
Radiographic features
Antenatal ultrasound
They are typically seen as a small bright echoic focus within the fetal heart on a four chamber view (often as bright as bone).
Tissue harmonic imaging should be turned off when evaluating a potential EIF, to avoid false positives. If it is difficult to tell if the EIF is as bright as bone, the gain in the image can be decreased to see which structure disappears first.
It is usually single and less than 3 mm.
it needs to be differentiated from normal papillary muscle which is not as bright as bone and a moderator band which is situated at the ventricular apex.
Treatment and prognosis
- the presence of an echogenic intracardiac focus has to be interpreted in the context of maternal risk factors and other sonographic anomalies
- when seen in isolation in a normal pregnancy it is considered a benign variant and some authors state karyotyping is unwarranted in the mid-trimester fetus with an incidental finding of fetal heart echogenic focus
- in high-risk pregnancies, there is an increased incidence of aneuploidic anomalies (e.g. Down syndrome and trisomy 13 )
- classified as a soft marker for aneuploidic anomalies
- the presence of multiple or bilateral (more than one chamber) echogenic foci may increase the risk
- there is no recognized direct association with congenital heart disease for an EIF on its own (unless there is an associated aneuploidic anomaly)
They usually disappear during the 3 trimester .