We describe a case of absent aortic and pulmonary valves, diagnosed at 16.4 weeks of gestation. Fetal echocardiography showed cardiomegaly with dilated both ventricles. No valve leaflets were observed in the aorta and pulmonary artery, and a typical to-and-fro flow pattern was noted in both great arteries on color Doppler imaging. Fetal hydrops was also detected. Follow-up ultrasonographic evaluation at 19 weeks demonstrated intrauterine fetal death. Postmortem autopsy revealed the absence of both aortic and pulmonary valve leaflets. To the best of our knowledge, this is the earliest diagnosed case of absent both aortic and pulmonary valves and only the second case to be diagnosed prenatally.
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 [
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 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 (
Following counseling on perinatal outcomes, amniocentesis for fetal karyotyping was recommended, but the parents declined. The woman revisited for a follow-up evaluation at 19 weeks of gestation and the fetus died. An abortus was delivered vaginally. Macroscopically, hydrops and nuchal fold thickening were observed. An autopsy confirmed the absence of both aortic and pulmonary valves with normally related great vessels (
To the best of our knowledge, only five cases on the absence of both aortic and pulmonary valves have been reported to date [
APV and AAV are commonly associated with other cardiac anomalies. APV is mainly associated with tetralogy of Fallot, which is found in over 80% of APV cases, followed by VSD [
The pathophysiology of the absence of both semilunar valves is unclear. Considering the common association of APV and AAV with conotruncal anomalies, such as tetraology of Fallot and double outlet right ventricle, as mentioned above, abnormal development of valve leaflets may be closely related to conotruncal evolution [
All reported cases of absent both semilunar valves resulted in fetal death or induced abortion because of fetal anomalies at around 18 gestational weeks [
In conclusion, we report an extremely rare case of absent aortic and pulmonary valves, which was diagnosed at the earliest gestational age. This is also only the second known case to be prenatally detected. Careful echocardiographic examination can allow for a correct diagnosis even in early gestation.