An extremely rare case of prenatally diagnosed absent both a
Introduction
Congenital absent pulmonary valve (APV) is a rare anomaly occurring in about 0.2% to 0.4% of live born infants with congenital heart disease. Absent aortic valve (AAV) is a much rarer cardiac anomaly with perhaps no more than two dozen reports in the literature, and a combination of these two conditions is extremely rare.
APV is characterized by absent, rudimentary, or dysplastic pulmonary valve leaflets. Echocardiographic findings of APV demonstrate a dilated right ventricle on four-chamber view and massive dilatation of main and branch pulmonary arteries on three-vessel view. A color Doppler image shows a typical to-and-fro pattern of pulmonary stenosis and regurgitation. AAV may also demonstrate left heart dilatation with stenoinsufficiency similar to the characteristics of APV. However, because of its rarity, prenatal echocardiographic findings have not been well described. Herein, we report a rare case of the absent both aortic and valves, which demonstrated a cardiomegaly with a typical to-and-fro flow pattern from both ventricles to both great arteries.
Case report
A 38-year-old multiparous woman was referred for detailed cardiovascular evaluation for cardiomegaly and pericardial effusion at 16.4 weeks of gestation. Her past medical and family histories were unremarkable. Sequential fetal screening testing indicated the risk for Down syndrome, but the fetal karyotype was not assessed. Ultrasonography demonstrated a singleton fetus with appropriate growth for gestational age. Generalized skin edema, bilateral pericardial effusion, and ascites were observed. Fetal echocardiography was performed, and a four-chamber view of the heart showed a cardiomegaly and ventricular septal defect (VSD). Both ventricles were dilated, and there were no discernible semilunar leaflets in either ventriculoarterial junctions. Color and pulsed-wave Doppler demonstrated typical to-and-fro flow across the annulus of both valves....
Read more : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028647/
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