Atrial septal defect, septum primum

Fabrice Cuillier, MD K. Comalli Dillon, BA, RDMS.

Department of Gynecology, Felix Guyon Hospital, 97400 Saint- Denis, Ile de la Reunion, France; tel: 0262 90 55 22; fax : 0262 90 77 30; ** Diagnostic Medical Sonographer, Editor, Translator, Novato, California.

Case report

We present the case of a 22-year-old patient (G1P0) with medical history of two incidences of pulmonary embolus. Laboratory values demonstrated a deficit of factor VIII. The patient was treated with an antithrombolytic shortly after conception.
At 13 weeks GA, initial sonographic examination revealed a cystic hygroma with a nuchal translucency of 5 mm (Figures 1, 2, 3, 4, 5, 6). Early anasarca was also seen (Figure 7). The patient was informed of the findings and chose amniocentesis which revealed a normal karyotype, 46, XX.
Fetal echocardiography appeared normal at 16 weeks GA. Anasarca was no longer present and the cystic hygroma had regressed. The facial profile appeared normal. The patient, concerned about congenital risks, requested interruption of pregnancy. However, the medical team encouraged the patient to postpone termination.
On sonography at 20 weeks GA, the four-chamber view appeared normal; however, at 26 weeks GA, an atrial septal defect was clearly seen (Figures 9--15). The interventricular septum was normal as were the great vessels, which crossed normally. Atrioventricular relationships and the right and left outflow tracts were normal.
The atrial septal defect was reconfirmed at 28 and at 38 weeks GA. 
The baby was born at 39 weeks GA and had a normal postnatal course. On the second day of life, echocardiography confirmed the atrial septal defect; further echocardiography was performed after one month. 

Figures 1, 2. 13 weeks GA, abnormal nuchal translucency.


Figures 3, 4. A 13 weeks GA, 2D view of the nuchal region with hygroma.


Figures 5, 6. A 13 weeks GA, 2D and 3D view of the abnormal nuchal translucency.


Figures 7, 8. Figure 7 - A 13 weeks GA, transverse 2D view of the abnormal abdomen. We see a small, early anasarca; Figure 8 - At 14 weeks GA, transverse 2D view of the thorax and heart.


Figures 9, 10. Atrial septal defect of the heart.


Figures 11, 12. Color Doppler images of the heart demonstrating atrial septal defect.


Figures 13, 14. Cardiac images at 20 weeks GA showing atrial septal defect.


Figures 15. Atrial septal defect of the heart. 



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