* Surat, India.
** Inner Vision Women's Ultrasound, Nashville, Tennessee, USA; Department of Obstetrics and Gynecology, University Hospital Brno, Czech Republic.
Absent pulmonary valve syndrome is a rare cardiac anomaly. It is characterized by absent, dysplastic or rudimentary pulmonary valve leaflets. In most cases, it is associated with severe dilation of the pulmonary trunk and branches of pulmonary artery due to valvular stenosis and regurgitation. This abnormality can be isolated but it is usually associated with tetralogy of Fallot (3% of all tetralogy of Fallot cases).
There are 2 variants of absent pulmonary valve syndrome, the first variant is much more common than the second one:
1) Absent pulmonary valve; severely dilated pulmonary trunk and branches; malaligned ventricular septal defect; overriding aorta; ductal agenesis (Tetralogy of Fallot variety)
2) Absent pulmonary valve; intact ventricular septum; mild dilatation of the pulmonary artery; patent ductus arteriosus; possible tricuspid atresia
The more common variant of absent pulmonary valve syndrome has been often associated with a chromosome 22q deletion (20-25 % of affected fetuses). Ultrasound findings
The 4-chamber view often shows a cardiomegaly and heart axis deviation. The dilation of the pulmonary trunk and it's branches is marked, especially in case of ductal agenesis. The dilation of the pulmonary artery is also caused by increased right ventricle stroke volume due to regurgitation and pulmonary annular stenosis which causes a poststenotic dilation. Left outflow tract shows a ventricular septal defect with an overriding aorta.
Case report 1
26-year-old patient G3 P0 was referred to our center at 22 weeks of gestation for a suspicion of a cardiac anomaly. Her first pregnancy was terminated at 20 weeks due to an unknown cause. Previous pregnancy was terminated in the 2nd trimester due to a cardiac anomaly, truncus arteriosus.
Our ultrasound examination revealed the following findings:
- Left axis deviation of the heart
- Disproportion between the left and right ventricle, right ventricle was bigger
- Ventricular septal defect with overriding aorta
- Main pulmonary artery not visible, right and left branch severely dilated
- Ductus arteriosus and ductal arch not visible
Our diagnosis based on the above findings was an Absent pulmonary valve syndrome.
Image 1,2: Image 1 shows the left-axis deviation of the heart. Image 2 shows a filling of the left and right ventricle.