The International Journal of Cardiovascular Imaging

, Volume 31, Issue 7, pp 1353–1359 | Cite as

Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years

  • Weichun Wu
  • Kunjing Pang
  • Qiongwen Lin
  • Ani Zhang
  • Wugang Wang
  • Minghui Zhang
  • Jianrong LiEmail author
  • Hao WangEmail author
Original Paper


Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is easily misdiagnosed as tetralogy of Fallot (TOF). We herein discuss the echocardiographic features of APVS, compare its two subtypes, and clarify some differences between APVS and TOF. From July 1998 to October 2011, 31 patients diagnosed with APVS at Fuwai Hospital underwent echocardiography, computed tomography, or cardiac angiography. APVS was clinically categorized as either infant-type or child-type. We compared the echocardiographic similarities and differences between APVS and TOF and between the two subtypes of APVS. Although enlargement or aneurysmal dilatation was present in the main pulmonary artery (PA) and its branch in most patients, pulmonary dysplasia or even an absent left PA was found in a few patients. Four important echocardiographic features of APVS useful for distinguishing this syndrome from TOF were (1) absence of the pulmonary valve or presence of pulmonary valve dysplasia, (2) concurrent stenosis and regurgitation at the pulmonary annulus, (3) significant aneurysmal dilatation in the areas of the PAs, and (4) increased rather than decreased PA pressure. 10 patients had infant-type APVS and 21 had child-type APVS. Compared with child-type APVS, infant-type APVS was usually characterized by a lower oxygen saturation, more dilated main PA and right PA, lower aorta-PA ratio, higher diastolic PA pressure, and lower incidence of an absent left PA. Echocardiography is important for diagnosing APVS and distinguishing it from TOF. There are minimal differences in the echocardiographic features between infant-type and child-type APVS.


Absent pulmonary valve syndrome Echocardiography Diagnosis 



This work was supported by the National Nature Science Foundation of China (81201108).

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Kirshbom PM, Kogon BE (2004) Tetralogy of Fallot with absent pulmonary valve syndrome. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 7:65–71CrossRefPubMedGoogle Scholar
  2. 2.
    Cheevers N (1847) Raaetraaecissement congenital de l” orifice pulmonaire. Arch Med Fourth Series 15:488Google Scholar
  3. 3.
    Liang CD, Ko SF, Chang JP, Huang SC (2010) Absent pulmonary valve syndrome with ascending aortic aneurysm. Heart Vessels 25(6):569–572CrossRefPubMedGoogle Scholar
  4. 4.
    Yang HY, Lue HC, Wang JK (1993) Absent pulmonary valve syndrome in tetralogy of Fallot: report of two cases. Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi 34(3):228–236PubMedGoogle Scholar
  5. 5.
    Siwik ES, Preminger TJ, Patel CR (1996) Association of systemic to pulmonary collateral arteries with tetralogy of Fallot and absent pulmonary valve syndrome. Am J Cardiol 77(7):547–549CrossRefPubMedGoogle Scholar
  6. 6.
    Roan JN, Lai CH, Wen JS et al (2006) Correction of tetralogy of Fallot with absent pulmonary valve syndrome in a young infant using a bicuspid equine pericardial tube. J Formos Med Assoc 105(4):329–333CrossRefPubMedGoogle Scholar
  7. 7.
    Solana-Gracia R, Crossland D, Mitchell L, Wren C, Griselli M (2013) Tetralogy of Fallot with absent pulmonary valve syndrome, right aortic arch, and disconnected left pulmonary artery. World J Pediatric Congenit Heart Surg 4(2):206–209CrossRefGoogle Scholar
  8. 8.
    Yong MS, Yim D, Brizard CP et al (2014) Long-term outcomes of patients with absent pulmonary valve syndrome: 38 years of experience. Ann Thorac Surg 97(5):1671–1677CrossRefPubMedGoogle Scholar
  9. 9.
    Szwast A, Tian Z, McCann M et al (2014) Anatomic variability and outcome in prenatally diagnosed absent pulmonary valve syndrome. Ann Thorac Surg 98(1):152–158CrossRefPubMedGoogle Scholar
  10. 10.
    Donofrio MT, Jacobs ML, Rychik J (1997) Tetralogy of Fallot with absent pulmonary valve: echocardiographic morphometric features of the right-sided structures and their relationship to presentation and outcome. J Am Soc Echocardiogr 10(5):556–561CrossRefPubMedGoogle Scholar
  11. 11.
    Philip S, Varghese M, Manohar K, Cherian KM (2011) Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation. Eur J Echocardiogr 12(12):E44CrossRefPubMedGoogle Scholar
  12. 12.
    Grotenhuis HB, Nijveld A, Backx A (2003) 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 75(1):280–282CrossRefPubMedGoogle Scholar
  13. 13.
    Mainwaring RD, Lamberti JJ, Spicer RL (1993) Management of absent pulmonary valve syndrome with patent ductus arteriosus. J Card Surg 8(2):148–155CrossRefPubMedGoogle Scholar
  14. 14.
    Alpert BS, Moore HV (1985) “Absent” pulmonary valve with atrial septal defect and patent ductus arteriosus. Pediatr Cardiol 6(2):107–111CrossRefPubMedGoogle Scholar
  15. 15.
    Podzimkova J, Hickey MS, Slavik Z, Leanage R, Chan KC (1997) Absent pulmonary valve syndrome with intact ventricular septum: role of ductus arteriosus revisited. Int J Cardiol 61(2):109–112CrossRefPubMedGoogle Scholar
  16. 16.
    Versacci P, Digilio MC, Sauer U, Dallapiccola B, Marino B (2005) Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. Am J Med Genet A 138A(2):185–186CrossRefPubMedGoogle Scholar
  17. 17.
    Johnson MC, Strauss AW, Dowton SB et al (1995) Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol 76(1):66–69CrossRefPubMedGoogle Scholar
  18. 18.
    McCaughan BC, Danielson GK, Driscoll DJ, McGoon DC (1985) Tetralogy of Fallot with absent pulmonary valve. Early and late results of surgical treatment. J Thorac Cardiovasc Surg 89(2):280–287PubMedGoogle Scholar
  19. 19.
    Abbag F (2006) Unilateral absence of a pulmonary artery in absent pulmonary valve syndrome: a case report and review of literature. Ann Thorac Cardiovasc Surg 12(5):368–372PubMedGoogle Scholar
  20. 20.
    Snir E, de Leval MR, Elliott MJ, Stark J (1991) Current surgical technique to repair Fallot’s tetralogy with absent pulmonary valve syndrome. Ann Thorac Surg 51(6):979–982CrossRefPubMedGoogle Scholar
  21. 21.
    Stayer SA, Shetty S, Andropoulos DB (2002) Perioperative management of tetralogy of Fallot with absent pulmonary valve. Paediatr Anaesth 12(8):705–711CrossRefPubMedGoogle Scholar
  22. 22.
    Hraska V (2005) Repair of tetralogy of Fallot with absent pulmonary valve using a new approach. Semin Thorac Cardiovasc Surg 8(1):132–134Google Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2015

Authors and Affiliations

  • Weichun Wu
    • 1
  • Kunjing Pang
    • 1
  • Qiongwen Lin
    • 1
  • Ani Zhang
    • 1
  • Wugang Wang
    • 1
  • Minghui Zhang
    • 1
  • Jianrong Li
    • 1
    Email author
  • Hao Wang
    • 1
    Email author
  1. 1.Department of Echocardiography, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular DiseasesChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China

Personalised recommendations