Case report

We present the case of a 20-year-old pregnant patient (G1P0). She was not exposed to any teratogens. Her triple marker screen was normal.

At 13 weeks, the crown-rump length was normal, as was the nuchal translucency. At 24 weeks, fetal sonography was normal. However, upon fetal echochardiography at 28 weeks GA, we observed a hypoplastic left heart. Its cardinal features were:

• A small, thin-walled left ventricle and an enlarged, thick-walled right ventricle;

• A hypoplastic, rigid mitral leaflet;

• Two small interventricular communications.

The ascending aorta was quite small; the pulmonary artery was enlarged. Retrograde flow was observed at the level of the ascending aorta. The tricuspid valve appeared normal.

The patient was informed about the fetal anomaly and its prognosis. She decided to continue the pregnancy. Amniocentesis was performed at 32 week, revealing 46 XY without 22q11 deletion. Other extracardiac malformations were ruled out. The patient delivered at 38 weeks; the baby weighed 3000 g.  The baby did not initially experience respiratory difficulties, but died on the fifth day of life.

Figures 1A, 1B. 2D sonographic view of four-chamber heart at 24WG. We observed a hypoplastic left ventricle.

Figures 1C, 2A. 2D sonographic view of four-chamber heart at 24 weeks - a hypoplastic left ventricle.

Figures 2B, 2C. 2D sonographic view of the four-chamber heart at 24WG. No flow is seen across the mitral valve.

Figures 2D, 2E. 2D sonographic view of the heart with Doppler. No aortic or pulmonary regurgitation was seen.

Figures 2F, 3A. 2F - 2D sonographic view of the four-chamber heart with Doppler: No aortic or pulmonary regurgitation is seen.

3A - 2D view of the pulmonary artery (right) and aorta (left).

Figure 3B. 2D view of the pulmonary artery (right) and aorta (left).