Echogenic heart focus is a relatively common finding that can be detected in prenatal fetal anomaly screening with ultrasound.
It is thought to be due to increased focal mineralization in the papillary muscles that provide the function of the heart valves.
It can be detected in approximately 4-5% of genetically normal fetuses. It is more common in Asia.
In the ultrasound examination performed during the intrauterine period, it is seen as a millimetric echogenic (bright) focus in a four-chambered heart with a brightness equivalent to the bone. It is mostly solitary and smaller than 3 mm.
Most intracardiac echogenic foci are unilateral. It is most often detected in the left ventricle, but more rarely in the right ventricle or in both ventricles.
The incidence in fetuses with trisomy 21 (Down's syndrome) is approximately 12% and the incidence is increased compared to the normal population, but the tightness of the relationship between an isolated echogenic focus and aneuploidy is still controversial. Biventricular or right ventricular echogenic focus is thought to be a higher risk factor for aneuploidy.
If there is an echogenic focus in the heart, this should be interpreted together with other maternal risk factors, additional sonographic pathological findings and anomalies.
Genetic counseling can be considered in terms of aneuploidy in high-risk pregnancies for fetal anomaly or in the presence of additional sonographic findings other than echogenic focus.
When seen alone in a normal pregnancy, it is considered a non-specific variant, therefore, it is not necessary to perform karyotype analysis in a fetus with an echogenic focus in the heart as an isolated finding.
Also, there is no direct relationship between echogenic focus in the heart, which is detected as an isolated finding, and congenital heart disease, unless there is an aneuploidic anomaly.
The echogenic focus usually disappears in the third trimester.
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