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 Table of Contents  
Year : 2021  |  Volume : 5  |  Issue : 1  |  Page : 63-65

Unusual Combination of Cardiac Anomalies with Absent Pulmonary Valve Syndrome in a Fetus

1 Department of Fetal and Pediatric Cardiology, Fortis Escorts Heart Institute, New Delhi, India
2 Department of Pediatric Cardiology, Fortis Escorts Heart Institute, New Delhi, India

Date of Submission17-Jun-2020
Date of Acceptance26-Jul-2020
Date of Web Publication04-Feb-2021

Correspondence Address:
Dr. Anupama Nair
Fortis Escorts Heart Institute, Okhla Road, New Delhi - 110 025
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiae.jiae_27_20

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Absent pulmonary valve syndrome is a rare anomaly and its combination with a complete atrioventricular septal defect and double-outlet right ventricle is even rarer which has never been reported in the literature as an antenatal diagnosis. We report a case of a 21-week fetus diagnosed having this rare combination of lesions. The main purpose of reporting this case is to highlight the prognostic implications for the fetus with this complex heart defect. There is a high risk of fetal heart failure and a higher risk of associated extracardiac and chromosomal anomalies. Unfortunately, the pregnancy was terminated, and hence, further antenatal course and postnatal details could not be evaluated.

Keywords: Absent pulmonary valve syndrome, atrioventricular septal defect, double -outlet right ventricle, fetal echocardiography

How to cite this article:
Nair A, Srivastava S. Unusual Combination of Cardiac Anomalies with Absent Pulmonary Valve Syndrome in a Fetus. J Indian Acad Echocardiogr Cardiovasc Imaging 2021;5:63-5

How to cite this URL:
Nair A, Srivastava S. Unusual Combination of Cardiac Anomalies with Absent Pulmonary Valve Syndrome in a Fetus. J Indian Acad Echocardiogr Cardiovasc Imaging [serial online] 2021 [cited 2021 Oct 17];5:63-5. Available from: https://www.jiaecho.org/text.asp?2021/5/1/63/308728

  Introduction Top

Absent pulmonary valve syndrome (APVS) first described in 1847[1] is a rare anomaly, with a postnatal incidence of 0.2%–0.4% in live born,[2] the prenatal incidence may be higher due to significant fetal loss. This rare conotruncal anomaly has two phenotypes. The more common Fallot type is associated with a malaligned ventricular septal defect, and the duct is often absent. A non-Fallot type is much rarer, described with an intact ventricular septum and possible tricuspid atresia[2] with the duct often being present. APVS is also associated with other cardiac, extracardiac, and chromosomal anomalies.

We report the case of a 21-week fetus diagnosed with a rare combination of APVS with unbalanced complete atrioventricular septal defect (AVSD) and double-outlet right ventricle (DORV) and describe the risk and prognosis during the antenatal period.

  Case Report Top

A 38-year-old third gravida lady with previous two living children was referred at 21 weeks of gestation for a suspicion of fetal heart defect on routine ultrasound scan. She had no risk factors except for an advanced age at pregnancy. Her other two children were normal. Detailed fetal echocardiography revealed situs solitus, levocardia, normal systemic, and pulmonary venous drainage. There was complete AVSD with a common atrioventricular (AV) valve; unbalanced ventricles with the left ventricle (LV) being mildly hypoplastic while right atrium (RA) and right ventricle (RV) were dilated [Figure 1]. The end-diastolic diameter of the RV was 13.5 mm (Z score = +4.2) and that of the LV was 5.0 mm (Z= −2.3]. Both the great arteries were arising from the RV (DORV), aorta being anterior to the pulmonary artery (PA) [Figure 2].
Figure 1: Apical 4-chamber view showing unbalanced atrioventricular septal defect with common atrioventricular valve and a hypoplastic left ventricle

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Figure 2: Aorta and pulmonary artery arising from the right ventricle

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The pulmonary valve was dysplastic with severe stenosis at the annular level (pulmonary annulus measured 2.1 mm [Z = −4.6]) having a peak systolic velocity of 200 cm/s. There was severe pulmonary regurgitation which was at high pressure (peak velocity of 177 cm/s) owing to the high pulmonary vascular resistance in the fetus [Figure 3]. The branch pulmonary arteries were dilated with the right and left pulmonary arteries measuring 5.3 mm (Z score= +5.1) and 6.1 mm (Z score= +5.8), respectively [Figure 4].
Figure 3: Pulsed Doppler at the pulmonary annulus showing severe stenosis and regurgitation

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Figure 4: Branch pulmonary arteries are dilated, pulmonary annulus is stenotic with severe pulmonary regurgitation

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The 3-vessel view was abnormal with only two vessels being visualized due to the malposed great vessels. Ductus arteriosus was absent, and the aortic arch was left-sided. There was mild regurgitation from both the right and left components of the common AV valve, mild cardiomegaly (cardio-thoracic area ratio was 0.38) but with no signs of hydrops. The parents were explained about the nature of the complex heart defect, univentricular palliation postnatally given the hypoplastic LV, and the high risk of intrauterine fetal demise because of the increased volume load on the RV caused by pulmonary regurgitation as well as AV valve regurgitation which could worsen with advancing gestation. In addition, the chances of the baby having significant respiratory problems postnatally due to bronchial compression by the dilated pulmonary arteries, a 40%–50% risk of coexisting chromosomal anomalies, and a 15%–20% risk of extracardiac anomalies were explained to the parents and they were advised for a detailed fetal anomaly scan and amniocentesis along with a follow-up after 4–6 weeks. However, the couple deferred any further evaluation and opted for termination of the pregnancy.

  Discussion Top

APVS is rare, and more than 80% are associated with a malaligned ventricular septal defect (Fallot type).[3] Rarer forms are either isolated APVS or those associated with tricuspid atresia and intact interventricular septum. APVS rarely coexists with Ebstein's anomaly of the tricuspid valve,[4] absent aortic valve,[5] and DORV.[6] However, the combination of an unbalanced AVSD with DORV and APVS as seen in our case has not been reported previously in any fetal series. In a series of five postnatal cases reported by Ivan,[7] an autopsy of the fifth case revealed a similar combination of AVSD with DORV and absent pulmonary and aortic valves. However, this was not a fetal diagnosis. APVS can be suspected by fetal echocardiographic findings such as aneurysmal dilatation of pulmonary arteries and its branches appearing as “bow tie” or “balloon”-like hypoechoic shadows.[8] The presence of both stenotic and regurgitant Doppler gradients at the pulmonary annulus differentiates it from uncomplicated Tetralogy of Fallot.

The fetal and postnatal survival rates are <20% for APVS, the fetal loss being related to pregnancy termination, fetal heart failure, respiratory disease, and chromosomal abnormalities.[9],[10] In utero hemodynamics mainly depend on the presence or absence of the ductus arteriosus and associated cardiac lesions. The arterial duct is mostly absent, so the PA blood must either pass through the highly flow-resistant pulmonary vasculature or flow back into the RV.[3] This results in significant dilation of the branch pulmonary arteries as well as volume overload of the RV. When a ductus arteriosus is present, the branch PA dilation is less prominent as during systole there is an egress for the PA blood through the duct into the systemic circulation. However, the mortality is much higher because the presence of ductus increases the regurgitant volume load on the RV.

The AV valve regurgitation in case of AVSD can deteriorate with advancing gestation, thus, further increasing the cardiomegaly and the risk of heart failure. All three cardiac lesions (absent pulmonary valve, DORV, and AVSD) seen in our case are known to be associated with significant chromosomal abnormalities (25%–40%), including trisomies and 22q11 deletion and extracardiac abnormalities (15%–20%) which can have major consequences.[5] Due to APVS, the branch pulmonary arteries are markedly dilated and often cause bronchial compression leading to varying severity of respiratory distress after birth, at times even fatal.

Antenatal detection of such cardiac lesions with fetal echocardiography helps in a thorough evaluation of the associated extracardiac and genetic anomalies followed by detailed prenatal counseling with prognostication allowing the parents to make an informed decision. It also helps in formulating an appropriate plan for postnatal management. In our case, the parents opted for the termination of the pregnancy, and hence, the further course of events is not known.

  Conclusion Top

This report describes a rare complex combination of APVS with an unbalanced complete AVSD and DORV which has not been previously reported. It also emphasizes the need for the identification of anatomic details of the heart on fetal echocardiography and assessment of extracardiac and genetic anomalies to provide appropriate counseling and prognosis.

Informed consent

Appropriate consent was obtained from the mother for reporting this unusual case without disclosing her identity.

Declaration of patient consent

The authors certify that they had obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images, and other clinical information to be reported in the journal. The patient understands that name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.


I am thankful to Dr. Sonali Inamdar (MD, DM-Cardiology) for her technical help in writing of the manuscript.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Chevers N. Recherches sur les maladies de l'artere pulmonaire. Arch Gen Med 1847;15:488-508.  Back to cited text no. 1
Grewal DS, Chamoli SC, Saxena S. Absent pulmonary valve syndrome-Antenatal diagnosis. Med J Arm Forces India 2014;70:198-200.  Back to cited text no. 2
Wertaschnigg D, Jaeggi M, Chitayat D, Shannon P, Ryan G, Thompson M, et al. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: Contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol 2013;41:162-7.  Back to cited text no. 3
Abramian A, Gembruch U, Geipel A, Müller AM, Baier B, Berg C. Ebstein anomaly of tricuspid valve in association with tetralogy of fallot and absent pulmonary valve syndrome. Fetal Diagn Ther 2011;30:153-6.  Back to cited text no. 4
Volpe P, Paladini D, Marasini M, Buonadonna AL, Russo MG, Caruso G, et al. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol 2004;24:623-8.  Back to cited text no. 5
Baker WP, Kelminson LL, Turner WM, Blount SG. Absence of pulmonary valve associated with double outlet right ventricle. Circulation 1967;36:452-5.  Back to cited text no. 6
D'Cruz IA, Lendrum BL, Novak G. Congenital absence of the pulmonary valve. Am Heart J 1964;68:728-40.  Back to cited text no. 7
Philip S, Varghese M, Manohar K, Cherian KM. Absent pulmonary valve syndrome: Prenatal cardiac ultrasound diagnosis with autopsy correlation. Eur J Echocardiogr 2011;12:E44.  Back to cited text no. 8
Razavi RS, Sharland GK, Simpson JM. Prenatal diagnosis by echocardiogram and outcome of absent pulmonary valve syndrome. Am J Cardiol 2003;91:429-32.  Back to cited text no. 9
Miyabara S, Ando M, Yoshida K, Saito N, Sugihara H. Absent aortic and pulmonary valves: Investigation of three fetal cases with cystic hygroma and review of the literature. Heart Vessels 1994;9:49-55.  Back to cited text no. 10


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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