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Table of Contents   
Year : 2020  |  Volume : 13  |  Issue : 2  |  Page : 136-140
Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?

1 Pediatric Cardiology Unit, Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt; Pediatric Cardiology Unit, Department of Pediatrics, King Abdul-Aziz University, Jeddah, Saudi Arabia
2 Pediatric Cardiology Unit, Department of Pediatrics, King Abdul-Aziz University, Jeddah, Saudi Arabia

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Date of Submission01-Jul-2019
Date of Decision15-Oct-2019
Date of Acceptance21-Feb-2020
Date of Web Publication30-Mar-2020


Isolated absent pulmonary valve syndrome with an intact ventricular septum (APVS/IVS) is an extremely rare lesion. The prenatal diagnosis was described in a few reports. In the current work, we report a unique fetal case with this rare anomaly. The family counseling for isolated APVS/IVS is a different challenging process than with fetal Fallot type diagnosis. Moreover, 22q11 deletion has never been found as an association. Parents must also be aware of the expected early heart failure in cases with large patent ductus arteriosus and the need for its closure as early as possible.

Keywords: Absent pulmonary valve, counsel the parents, fetal, intact interventricular septum

How to cite this article:
Rakha S, Alkhushi N. Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?. Ann Pediatr Card 2020;13:136-40

How to cite this URL:
Rakha S, Alkhushi N. Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?. Ann Pediatr Card [serial online] 2020 [cited 2022 Aug 19];13:136-40. Available from:

   Introduction Top

Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease characterized by a rudimentary, dysplastic pulmonary valve, resulting in significant pulmonary regurgitation with some degree of stenosis. It is associated with aneurysmal dilation of the pulmonary trunk as well as one or both of its branches.[1] The most common type of APVS is the Fallot like with ductus arteriosus agenesis in most cases. Nevertheless, isolated APVS with an intact ventricular septum (APVS/IVS) is considered a distinct entity. It is a rare disease with few published fetal cases.[2] The data on the fetal presentation and outcome of APV/IVS are still scarce. Thus, we report a unique fetal case with specific emphasis on the challenge of prenatal family counseling.

   Case Report Top

A primigravida 26-year-old with in vitro fertilization resulted in diamniotic-dichorionic twins. She was referred at 29 weeks of gestation for detailed fetal echocardiography due to obstetric suspicion of abnormal four-chamber view in one of the twins. Transabdominal fetal echocardiographic examination revealed situs solitus, levocardia, concordant atrioventricular, and ventriculoarterial connection with normally related great arteries. A markedly dilated hypertrophied right ventricle (RV) was evident with significant trabeculations and intact interventricular septum [Figure 1]. The pulmonary valve was rudimentary with dilated main pulmonary artery measuring 11.7 mm (Z score: 4.12), and aorta to main pulmonary artery diameter ratio was 1:2.4. There was some dilatation of pulmonary artery branches, especially left pulmonary artery (LPA) was 5.8 mm (Z score: 3.8), and right pulmonary artery (RPA) was 4.7 mm (z score: 2.2), but a patent ductal arch was seen. The rudimentary pulmonary valve was further confirmed on the three-dimensional (3D) fetal echocardiography. On color flow mapping, moderate pulmonary stenosis, and severe pulmonary regurgitation [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d. Doppler tracing of the pulmonary valve showed accelerated flow across the pulmonary annulus (300 cm/s) with a reversal of flow on diastole [Figure 2]e. The Cardiovascular Profile Score was 7/10 points. The other twin had no detected abnormal cardiac findings. The family counseling step was the most challenging part given the rarity of the lesion. We informed the parents about the need to deliver in a tertiary center and surgery postnatal. Nevertheless, we had to do a significant literature review to perform further counseling.
Figure 1: Left ventricle outflow view of fetal echocardiogram (a) Color flow Doppler demonstrating no overriding of the aorta with intact outlet septum (b) three-dimensional dimensional echocardiogram confirming intact interventricular septum. A: Aorta, LV: Left Ventricle, RV: Right Ventricle

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Figure 2: Three vessel view of fetal echocardiogram (a) two-dimensional echocardiogram showing constriction of PA at the pulmonary valve level with rudimentary pulmonary valve, (b) color flow Doppler showing severe pulmonary regurgitation (c) color flow Doppler showing the turbulent flow of pulmonary stenosis (d) three-dimensional echocardiogram showing the absent pulmonary valve (e) Doppler tracing of the to-and-fro flow across pulmonary artery. A: Aorta, P: Pulmonary, Yellow arrow: Constriction at the level of pulmonary annulus with absent pulmonary valve

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Follow-up fetal echocardiogram after 4 weeks (at 33 weeks gestation) did not reveal additional findings. At 36 weeks gestation, the main PA diameter was 13.5 mm (Z score: 5.03) and evident absent end-diastolic flow in the umbilical artery was detected. An elective cesarean section was arranged at 37 weeks gestation. The twin with the abnormal heart was a female newborn weighing 2180 g with to and fro murmur on the pulmonary area and normal oxygen saturation. Transthoracic Echocardiography on the day of birth confirmed the antenatal findings with absent pulmonary valve, moderate pulmonary stenosis, and severe regurgitation with normal coronaries anatomy [Figure 3]. The main pulmonary artery diameter was 14.2 mm (z score: 5.08) with LPA 9.51 mm (z score 5.48) and RPA 6.53 mm (z score 3.18). The interventricular septum was intact with mildly depressed right ventricular function and large patent ductus arteriosus (PDA) 5 mm in diameter. The cardiac CT angiogram was performed as a further confirmatory tool [Figure 4]. On the 2nd day of life, the baby was in respiratory distress and was put on nasal CPAP and later intubated. She remained intubated for 4 weeks, during which she received diuretics to improve pulmonary overcirculation. By the age of 40 days, after the patient had completed antibiotics for acquired sepsis, the patient underwent surgical closure of the PDA. Our patient had an uneventful recovery and discharged home on low dose furosemide a week later. Karyotyping for chromosomal disorders and FISH for 22q11 deletions came out negative. After 6 months, RV was regressing in size, and the patient was thriving and stable.
Figure 3: Postnatal echocardiogram showing (a) markedly dilated trabeculated right ventricle; (b) intact interventricular septum; (c) large patent ductus; (d) absent pulmonary valve with pulmonary stenosis and regurgitation, (e) right coronary artery, (f) left coronary artery. LC: Left coronary artery, LV: Left ventricle, DA: Patent ductus arteriosus, PA: Pulmonary Artery, RC: Right coronary artery, RV: Right ventricle

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Figure 4: Postnatal cardiac CT angiogram (a) axial CT image demonstrating aneurysmal dilatation main pulmonary artery but with no significant dilatation of the pulmonary branches. (b) Sagittal CT image showing the markedly hypertrophied RV, constriction at the level of the pulmonary annulus, and aneurysmal dilatation of the main pulmonary artery. A: Aorta, CT: Computed tomography, PA: Pulmonary artery, RV: Right ventricle

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   Discussion Top

APVS is characterized by severely undeveloped pulmonary valve leaflets with a restrictive ring of thickened tissue leading to marked insufficiency with to-and-fro blood flow over the dysplastic valve.[2],[3] Fallot type is considered the most common, yet the isolated APVS is a rare separate entity with different counseling aspects. In the Fallot APVS, marked dilatation of the main pulmonary artery and branches results in significant airway compression in the neonatal period and no associated PDA in most cases. These patients usually require aggressive medical and surgical therapy during infancy.[4] On the other hand, in isolated APV, the main pulmonary artery is dilated, but the branches are not dilated to the massive size that is frequently encountered in the Fallot type, and the PDA presence is a common finding.

On counseling, it is mandatory to discuss with the parents that the clinical presentation of isolated type is dependent mostly on the PDA size. Respiratory distress and heart failure immediately after birth are expected clinical findings in the presence of a large PDA.[5] This could be attributed to the increased RV stroke volume associated with the pulmonary regurgitation as well as extensive left-to-right shunt through the PDA.[6] Consequently, the RV end-diastolic pressure increases and RV dysfunction eventually occurs.[7] On the other hand, with small or absent PDA, cases could manifest later in childhood, adulthood, and even the elderly. In childhood, it was reported that exertional chest pain and fatigue could be the initial complaint.[8] It was also diagnosed in a 79-year-old female complaining of exertional dyspnea.[9]

Another rare form of APVS/IVS was described with tricuspid atresia or severe stenosis. In the type as mentioned earlier, the newborn is cyanotic with markedly dysplastic RV and eventually proceeds to the univentricular pathway.[10]

Prenatal diagnosis of isolated APVS/IVS is feasible using conventional fetal echocardiography since 1995.[11] Moreover, it was suggested that APVS could be diagnosed in the first trimester if typical to-and-fro blood flow is detected within DA, umbilical artery or middle cerebral artery.[12] Unlike the Fallot type, in APVS/IVS with a sizable ductal arch, like our patient, markedly dilated trabeculated RV is a key feature for diagnosis. Besides, 3D fetal echocardiography can be a confirmatory method to delineate the restrictive ring at the pulmonary valve level as in our patient [Figure 2]d.

After diagnosis, follow-up using fetal echocardiography is mandatory as the dilated hypertrophied RV would fail due to the significant volume as well as pressure overload. Thus, hydrops development at any time throughout gestation is possible and was reported before in literature in 5 fetuses.[3],[13]

To the best of our knowledge, about 30 antenatal diagnosed cases with isolated APVS/IVS were described in the literature [Table 1]. Unlike the APVS Fallot category, none of the reported isolated APVS/IVS patients, including our case, were associated with 22q11 deletion. Trisomy 18 was documented previously in two cases and 18 P deletion in one fetus.[3],[14] Regarding outcome, after excluding pregnancy termination (10 cases) and unknown fate (5 cases), we found that 31.2% (n = 5) of fetuses, with APV/IVS isolated type, had intrauterine or neonatal deaths. Meanwhile, about 68.8% (n = 11) of fetuses, including the current case, survived the neonatal period. Hence, we can inform the family about the expected prognosis that more than two-thirds of the fetuses survive the neonatal period and the rarity of associated disorders with such uncommon cardiac lesion.
Table 1: Antenatally diagnosed cases with isolated absent pulmonary valve

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Surgical ligation of the large PDA is the mainstay of treatment to alleviate respiratory distress and cardiac failure.[22] In our patient, marked clinical improvement was evident after PDA ligation. Nevertheless, pulmonary homograft may be needed later to decrease right ventricular volume overload; however, it could be postponed for years without clinical deterioration.[22] To conclude, family counseling of isolated APVS/IVS is different from the Fallot type, and 22q11 deletions are never found in association. In the case of isolated APV with large PDA, parents must be informed about the expected early heart failure with PDA closure required as early as possible.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for images and other clinical information to be reported in the journal. The patient's parents understand that his names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Ettedgui JA, Sharland GK, Chita SK, Cook A, Fagg N, Allan LD. Absent pulmonary valve syndrome with ventricular septal defect: Role of the arterial duct. Am J Cardiol 1990;66:233-4.  Back to cited text no. 1
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. 2
Axt-Fliedner R, Kurkevych A, Slodki M, Respondek-Liberska M, Zych-Krekora K, Stressig R, et al. Absent pulmonary valve syndrome – Diagnosis, associations, and outcome in 71 prenatally diagnosed cases. Prenat Diagn 2017;37:812-9.  Back to cited text no. 3
Moon-Grady AJ, Tacy TA, Brook MM, Hanley FL, Silverman NH. Value of clinical and echocardiographic features in predicting outcome in the fetus, infant, and child with tetralogy of Fallot with absent pulmonary valve complex. Am J Cardiol 2002;89:1280-5.  Back to cited text no. 4
Horigome H, Sakakibara Y, Atsumi N, Miyamoto T, Sato H. Absent pulmonary valve with intact ventricular septum presenting as cardiorespiratory failure at birth. Pediatr Cardiol 1997;18:136-8.  Back to cited text no. 5
Rabinovitch M, Grady S, David I, Van Praagh R, Sauer U, Buhlmeyer K, et al. Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves. Am J Cardiol 1982;50:804-13.  Back to cited text no. 6
Yeager SB, Van Der Velde ME, Waters BL, Sanders SP. Prenatal role of the ductus arteriosus in absent pulmonary valve syndrome. Echocardiography 2002;19:489-93.  Back to cited text no. 7
Kariyappa M, Agrawal N, Srinivas BC, Ravindranath KS, Manjunath CN. Absent pulmonary valve: A case with rare presentation treated with bioprosthetic valve replacement. World J Pediatr Congenit Heart Surg 2014;5:627-30.  Back to cited text no. 8
Okajima K, Kawase Y, Hasegawa T, Hato K, Nishimoto M, Yoshikawa J. Long-surviving patient with isolated absent pulmonary valve syndrome: A case report. J Cardiol 2005;45:165-71.  Back to cited text no. 9
Best TH, Vyas HV, Jaquiss RD, Sachdeva R. Tricuspid atresia with absent pulmonary valve and intact ventricular septum: A rare association. Congenit Heart Dis 2011;6:393-6.  Back to cited text no. 10
Chenoweth-Mitchell C, Cohen GR, Sims M, Nepperud J. Antenatal diagnosis of absent pulmonary valve syndrome. J Diagn Med Sonogr 1995;11:193-5. the DOi:  Back to cited text no. 11
Gottschalk I, Jehle C, Herberg U, Breuer J, Brockmeier K, Bennink G, et al. Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: Novel insights into pathophysiology, associated conditions and outcome. Ultrasound Obstet Gynecol 2017;49:637-42.  Back to cited text no. 12
Szwast A, Tian Z, McCann M, Soffer D, Combs J, Donaghue D, et al. Anatomic variability and outcome in prenatally diagnosed absent pulmonary valve syndrome. Ann Thorac Surg 2014;98:152-8.  Back to cited text no. 13
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. 14
Galindo A, Gutiérrez-Larraya F, Martínez JM, Del Rio M, Grañeras A, Velasco JM, et al. Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve. Ultrasound Obstet Gynecol 2006;28:32-9.  Back to cited text no. 15
Hajdú J, Pete B, Harmath A, Beke A, Papp C, Szigeti Z, et al. Congenitally absent pulmonary valve – Analysis of ten prenatally diagnosed cases and review of the literature. Orv Hetil 2007;148:1557-61.  Back to cited text no. 16
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;9:1127-9.  Back to cited text no. 17
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. 18
Grewal DS, Chamoli SC, Saxena S. Absent pulmonary valve syndrome – Antenatal diagnosis. Med J Armed Forces India 2014;70:198-200.  Back to cited text no. 19
Cadiz EM, Pasierb MM, Dolgner SJ, Arya B. Prenatal physiologic findings and postnatal advanced imaging in the management of absent pulmonary valve syndrome with intact ventricular septum. Echocardiography 2018;35:1695-7.  Back to cited text no. 20
Zhou WY, Li YY, He XQ, Wang YB. Absent pulmonary valve syndrome in a fetus: A case report and literature review. Fetal Pediatr Pathol 2019;38:57-62.  Back to cited text no. 21
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;75:280-2.  Back to cited text no. 22

Correspondence Address:
Dr. Shaimaa Rakha
Pediatric Cardiology Unit, Mansoura University Children Hospital, El Gomhouria St, Mansoura, Dakahlia Governorate 35516

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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/apc.APC_101_19

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  [Table 1]