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2010-06-04-11 Absent pulmonary valve syndrome © Chauhan www.TheFetus.net


Absent pulmonary valve syndrome

Binodini M.Chauhan, MD.*, Eva Racanska, MD. PhD.**

* Surat, India.
** Inner Vision Women's Ultrasound, Nashville, Tennessee, USA; Department of Obstetrics and Gynecology, University Hospital Brno, Czech Republic.


Introduction

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.



Images 3,4: Images show an overriding aorta.



Images 5,6: Image 5 shows a color Doppler demonstrating overriding aorta. Image 6 shows branching of the pulmonary arteries. Both branches are severely dilated, measuring 7-8 mm in diameter.



Images 7,8: Image 7 shows dilated right and left pulmonary artery, indicated by arrows. Image 8 shows dilated pulmonary arteries (BR PA) and aorta (Ao).



Images 9: 3 vessel view showing aorta (Ao), superior vena cava (SVC), pulmonary artery is not visible.



Video 1: Video showing dilated pulmonary artery branches, deviated heart axis, 4-chamber view with ventricular septal defect and overriding aorta.



Case report 2

24-year-old G2 P1 was referred to our department at 36 weeks of gestation for the cardiomegaly and cystic structure in the chest. Her previous pregnancy was uncomplicated and she has one healthy 3-year-old boy.


Our ultrasound examination showed the following findings:
  • Cardiomegaly, left axis deviation
  • Ventricular septal defect
  • Pulmonary artery branches markedly dilated
  • No ductus arteriosus or ductal arch visible
The final diagnosis base don the ultrasound findings was Absent pulmonary valve syndrome.

Images 10,11: Image 10 shows a 4-chamber-view. Image 11 shows dilated pulmonary arteries.



Images 12,13: Image 12 shows a 3 vessel view, pulmonary artery was not seen. Image 13 shows a ventricular septal defect indicated by arrow.



Images 14,15: Image 14 shows a Doppler imaging of the right ventricle outflow tract, blood flow is apparent during both systole and diastole. The reason is the absence of the pulmonary valve. Image 15 shows a dilated pulmonary arteries.



Image 16: Overriding aorta.



Video 2: Video showing dilated pulmonary artery branches, overriding aorta with ventricular septal defect, Doppler imaging shows a regurgitation of the pulmonary artery.



References:

1. Joshi A.N., Rane H.S.,  Kamble R.C., Mestry PJ, Maniar H, Shah Y. Prenatal Diagnosis of Absent Pulmonary Valve Syndrome. J Ultrasound Med 2010; 29:823–829.
2. Rane HS, Shah KR, Purandare H. Prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve. Indian Heart J 1995; 47:375–377.
3. Thanopoulos BD, Fisher EA, Hastreiter AR. Large ductus arteriosus and intact ventricular septum associated with congenital absence of pulmonary valve. Br Heart J 1986; 55:602–604.
4.Podzimkova J, Hickey MS, Slavik Z, Leanage R, Chan KC. Absent pulmonary valve syndrome with intact ventricular septum: role of ductus arteriosus revisited. Int J Cardiol 1997; 61:109–112.

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