Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation

Philip, Saji; Varghese, Merilyn; Manohar, Krishna; Cherian, Kotturathu Mammen

doi:10.1093/ejechocard/jer155

Cited by 11 publications

(7 citation statements)

References 10 publications

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“…The absence of a pulmonary valve (including pulmonary valve dysplasia) is important in distinguishing AVPS from TOF; however, in both conditions, the pulmonary valve cannot always be seen clearly on TTE, and some patients with APVS have a remnant pulmonary valve. In these situations, the presence of both stenosis and regurgitation at the pulmonary annulus may be the best way to distinguish APVS from uncomplicated TOF [11]. Furthermore, when associated echocardiographic findings are seen, such as significant aneurysmal dilatation of a PA or increased rather than decreased PA pressure, APVS should be suspected (Figs.…”

Section: Discussionmentioning

confidence: 99%

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

Pang

Lin

et al. 2015

Int J Cardiovasc Imaging

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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.

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Section: Discussionmentioning

confidence: 99%

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

Pang

Lin

et al. 2015

Int J Cardiovasc Imaging

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“…The dilated main pulmonary artery and the branches gives rise to the Bow tie sign. [3] Association with 22q11 microdeletion in APVS is also noted. [4] The presence of DA causes severe pulmonary regurgitation leading to congestive heart failure and fetal loss.…”

Section: Introductionmentioning

confidence: 77%

“…APVS can be suspected when we image absent/dysplastic pulmonary valves with malaligned VSD and associated echocardiographic findings like aneurysmal dilatation of pulmonary arteries and the branches appearing as 'bow tie' or 'balloon' like hypoechoic shadow. [3] The presence of both stenotic and regurgitant Doppler gradient at the pulmonary annulus differentiates APVS from uncomplicated TOF.…”

Section: Discussionmentioning

confidence: 98%

Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature

Sabu¹,

Khan²,

Ranganayaki³

2021

IJCEMS

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Absent Pulmonary valve syndrome (APVS) or congenital absence of pulmonary valve is a rare conotruncal anomaly in which the pulmonary valve is absent, dysplastic or rudimentary. It can be isolated or associated with tetralogy of Fallot and has a favourable to guarded postnatal outcome according to the associations. In this case report, we discuss an interesting case of APVS with postnatal correlation. Methods: Detailed USG including fetal echocardiography was performed on an ultrasound machine using appropriate presets. The abdominal and cardiac situs were normal. Segmental evaluation of the fetal heart along with color and spectral doppler was performed. Results: The fetus had the typical features of APVS, with a dilated pulmonary artery and branches, a subaortic ventricular septal defect, overriding of the aorta, and agenesis of ductus arteriosus. There was typical to and fro flow noted on color and spectral Doppler imaging representing forward stenotic and retrograde regurgitant flow. Postnatal Echocardiogram confirmed our antenatal findings. Though the baby underwent surgical correction, he succumbed due to the effects of multiorgan dysfunction and the underlying chromosomal defect. Conclusions: A dedicated fetal echocardiography around 22 weeks can accurately diagnose the condition due to its typical features of dilated main and branched pulmonary arteries, absent /dysplastic pulmonary valves with color and spectral doppler revealing features of stenosis and insufficiency. However the outcome of fetuses in APVS with additional anomalies is guarded due to the heart defect itself, respiratory complications and associated chromosomal abnormalities.

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“…Some cases of APVS associated with TOF have microdeletion of 22q11.2. [ 1 , 5 , 9 ] However, both our cases refused to participate in karyotype analysis and no karyotype analysis was performed for 2 fetuses either. Hence, we do not know whether the 2 fetuses also had microdeletion of 22q11.2.…”

Section: Discussionmentioning

confidence: 96%

“…The majority of APVS cases are often complicated with the VSD and overriding aorta, and among most of these cases, intrauterine closure of the arterial duct is shown by ultrasonography. [ 3 ] Therefore, these complicated APVS cases are also known as “absence of pulmonary valve associated with TOF.” The minority of APVS cases may also have several intracardiac malformations, such as tricuspid atresia, [ 4 ] right aortic arch, [ 5 ] and atrial septal defect. This congenital disease can nowadays be easily diagnosed by ultrasonography because of its specific ultrasonographic characteristics.…”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome

Zhang

Zhang²,

Chang³

et al. 2017

Medicine

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Rationale:Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease that is often associated with tetralogy of Fallot (TOF). Here, we report 2 cases of APVS associated with TOF diagnosed via fetal echocardiography and discuss their specific ultrasonographic characteristics.Patient concerns:Two pregnant women with suspicion of fetal heart anomaly were referred from their local hospitals to our hospital for fetal malformation screening and detailed fetal echocardiography. Color and spectral Doppler flow imaging were utilized to evaluate the axis, size, situs, cardiac chambers, and both inflow and outflow tracts of the heart as well as the great arteries. Both cases had a severe dilatation of the pulmonary trunk and its branches and an absence or dysplasia of the pulmonary valve, which was associated with subaortic ventricular septal defect (VSD) with an overriding aorta. In addition, the fetus in case 1 showed a patent ductus arteriosus, and the fetus in case 2 showed arterial duct agenesis. Furthermore, color Doppler flow imaging showed a bi-directional multicolored flow signal in the pulmonary valve ring.Diagnoses:Both fetuses were diagnosed with APVS associated with TOF.Interventions:No therapeutic intervention was performed.Outcomes:On the request of the pregnant women and their families, both fetuses were aborted.Lessons:Although APVS is a rare congenital heart disease and often associated with TOF, it has an overall poor prognosis. Nowadays, it can be easily diagnosed via ultrasonography because of its typical ultrasonographic features, such as aneurysmal dilatation of pulmonary artery, massive regurgitation of the pulmonary valve, VSD, and an overriding aorta. Therefore, early fetal echocardiography screening should be performed for every fetus.

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Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation

Cited by 11 publications

References 10 publications

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

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

Absent Pulmonary Valve Syndrome - Prenatal Diagnosis and Postnatal Correlation with a Review of Literature

Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome

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