• Not infrequently, serious cardiac defects are confused as echogenic focus in fetal heart.
• Lets understand what is echogenic focus in heart and which cardiac defects one should be careful about.

What is echogenic focus in heart?

• Bright spot seen in heart during evaluation of fetus.
• It disappears by the time of birth or after birth.
• Can be observed 1 in 5 pregnancy, during second and third trimester.

What does it signify?

• In isolation it does not signify any heart defect.
• In isolation, it is not a risk factor for chromosomal anomaly.
• In association with some other anomaly, doctor may ask for genetic evaluation.

How does it look?

• Solitary or multiple
• Involves sub valvar apparatus of tricuspid or mitral valve.
• Not more than 1 or2 mm in dimension.
• It most frequently involves left ventricle but can be seen in right ventricle and can be multiple.

Arrows: echogenic foci in LV and RV

Arrow: Multiple echogenic foci in LV and RV

Solitary echogenic focus in heart implies

• Normal LV and RV function and structure
• Normal valves
• Normally related great vessels

Does it need further evaluation?

• Anomaly scan shows defect in any organ
• Maternal risk factors like advance age/ family history / drugs etc
• Fetal risk factors: NT scan, IVF, etc
• In presence of above risk factors, further evaluation is warranted

Other causes of hyper echoic tissue?

• Endocardial fibroelstosis
• Critical aortic stenosis
• Hypoplastic left heart syndrom
• Rhabdomyoma

Endocardial fobroelastosis

• Fibrosis of left ventricle endocardium
• Look like hyperechoic tissue involving larger part of LV myocardium, and papillary muscle
• May be associated with HLHS, aortic stenosis or isolated findings
• High chances of fetal demises when diagnosed in utero.

How it does not look?

• Involvement of large part of endocardium
• Abnormal valves, mainly mitral hypoplasia and regurgitation
• Depressed left ventricular function
• Hypoplastic aortic valve
• May have flow reversal in arterial duct and oval foramen.

Endocardial fibro elastosis of LV

Hypoplastic left heart syndrome

• Characterized by small left ventricle
• Hypoplasia or atresia of mitral and aortic valve
• May have endocardial fibroelastosis.
• Flow reversal in oval foramen and distal aortic arch
• Aortic stenosis ( difficult to diagnose in utero)

Hypoplastic left heart syndrome

Small LV and hyper echoic myocardium

Severe aortic stenosis

• Bi cuspid or mono cuspid aortic valve.
• LV may dilate and become dysfunctional
• Extensive endocardial fibroelastosis
• Flow reversal in distal aortic arch may be present
• May develop into hypoplastic left heart syndrome

Hyper echoic LV endocardium in aortic stenosis

Endocardial fibroelastosis and dilated dysfuntional LV

Rhabdomyoma

• Associated with tuberous sclerosis
• Affects mainly ventricle
• Single or multiple
• May cause obstruction to mitral/ tricuspid/ aortic or pulmonary valve.
• May regress over time.

How to deal with echogenic focus in heart?

• Isolated findings may not need further evaluation.
• However; other major cardiac defects can be mis-diagnosed as echogenic focus.
• It remains a diagnosis of exclusion.

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