Case Report

A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation

Abstract

Absent pulmonary valve syndrome (APVS) is a rare congenital anomaly characterized by rudimentary PV tissue with variable degrees of PV stenosis and regurgitant pulmonary blood flow. In most cases, it is associated with tetralogy of Fallot. In a minority of APVS cases, with an unknown frequency, intact ventricular septum (IVS), patent ductus arteriosus, and possible tricuspid atresia are present. This condition is known as non-Fallot type APVS.
We describe a case of an antenatal diagnosis of APVS with IVS, a large patent ductus arteriosus, and ascending aorta dilatation. The mother was referred to our center at 32 weeks of gestation due to cardiomegaly on sonography. Fetal echocardiography revealed cardiomegaly, right atrial and ventricular enlargement, aneurysmal dilatation of the main pulmonary artery, and mild dilatation of the pulmonary artery branches. Also observed were IVS, rudimentary PV tissue with severe to-and-fro turbulence across the PV, a widely open ductus arteriosus, ascending aorta dilatation, and levorotation of the heart.
After childbirth, our diagnosis was confirmed by echocardiography and surgery. The baby experienced severe respiratory distress. At 15 days of life, surgical intervention in the form of pulmonary artery arterioplasty was performed, resulting in good outcomes. The patient underwent follow-up for 6 months and showed reasonable health.

1. Grotenhuis HB, Nijveld A, Backx A. Absent pulmonary valve syndrome with intact ventricular septum and patent ductus arteriosus: report of two cases and a short review of the literature. Ann Thorac Surg 2003;75:280-282.
2. 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.
3. Rabinovitch M, Grady S, David I, Van Praagh R, Sauer U, Buhlmeyer K, Castaneda AR, Reid L. Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves. Am J Cardiol 1982;50:804-813.
4. Gottschalk I, Jehle C, Herberg U, Breuer J, Brockmeier K, Bennink G, Hellmund A, Strizek B, Gembruch U, Geipel A, Berg C. Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome. Ultrasound Obstet Gynecol 2017;49:637-642.
5. Karimi A, Peiravian F, Amirghofran AA, Kariminejad A. Absent pulmonary valve, intact interventricular septum, rudimentary aortic non-coronary cusp and ascending aortic aneurysm in a single patient. Interact Cardiovasc Thorac Surg 2010;10:636-638.
6. Zucker N, Rozin I, Levitas A, Zalzstein E. Clinical presentation, natural history, and outcome of patients with the absent pulmonary valve syndrome. Cardiol Young 2004;14:402-408.
7. Emmanoulides GC, Thanopoulos B, Siassi B, Fishbein M. "Agenesis" of ductus arteriosus associated with the syndrome of tetralogy of Fallot and absent pulmonary valve. Am J Cardiol 1976;37:403-409.
8. Pachirat O, Seward JB, O'leary PW. Absent Pulmonary Valve: Echocardiographic Features. Echocardiography 1997;14:129-134.
9. Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, Yoo SJ, Jaeggi E. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol 2013;41:162-167.
10. Joshi AN, Rane HS, Kamble RC, Mestry PJ, Maniar H, Shah Y. Prenatal diagnosis of absent pulmonary valve syndrome: report of 2 cases, most common and most rare presentations. J Ultrasound Med 2010;29:823-829.
11. Rakha S, Alkhushi N. Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents? Ann Pediatr Cardiol 2020;13:136-140.
12. Favilli S, Lapi E, Pollini I, Calabri GB, Bini RM. Prenatal diagnosis and postnatal outcome in patients with absent pulmonary valve syndrome not associated with tetralogy of Fallot: report of one case and review of the literature. J Cardiovasc Med (Hagerstown) 2008;9:1127-1129.
13. Moradian M. Diagnostic errors in echocardiography: review of five interesting pediatric cases. J Tehran Heart Cent 2012;7:33-36.
14. Moradian M, Rashidighader F, Golchinnaghash F, Meraji M, Ghaemi HR. Impact of pulmonary valve replacement on left and right ventricular function using strain analysis, in children with repaired tetralogy of Fallot. Egypt Heart J 2023;75:51.
15. Ghader FR, Abaskhanian ZA. Influence of metoprolol on systolic and diastolic function in children with heart failure. Pak J Biol Sci 2009;12:451-4.
Files
IssueVol 19 No 1 (2024): J Teh Univ Heart Ctr QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/jthc.v19i1.15614
Keywords
Absent Pulmonic Valve Antenatal Diagnosis Pulmonary valve/abnormalities*
Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
1.
Ghader F, Mirzaaghayan M. A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation. J Tehran Heart Cent. 2024;19(1):60-65.