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Congenital supravalvular and subvalvular pulmonary
Cardiology, All India Institute
of Medical Sciences Rishikesh,
Rishikesh, Uttarakhand, India
Correspondence to
Dr Bhanu Duggal,
​bhanuduggalbmj@​gmail.​com,
​bhanuduggal2@​gmail.​com
Accepted 30 May 2019
© BMJ Publishing Group
Limited 2019. No commercial
re-use. See rights and
permissions. Published by BMJ.
To cite: Khanra D,
Shrivastava Y, Duggal B,
et al. BMJ Case Rep
2019;12:e231008.
doi:10.1136/bcr-2019-
231008
stenosis with hypoplastic pulmonary annulus
associated with congenital rubella syndrome
Dibbendhu Khanra, Yash Shrivastava, Bhanu Duggal, Shishir Soni
Description
A 9-year-old girl presented with exertional dyspnoea
without cyanosis. She had normal developmental
milestones. Her mother had fever with rash during
the first trimester of her pregnancy. The family of
the girl reside in remote hilly areas of northern India
which is out of coverage area of rubella vaccination.
There was no facial dysmorphism of the girl and
hearing and eye sight was normal. Cardiovascular
examination revealed grade 4 parasternal heave
and a long ejection systolic murmur (grade 4/6)
in pulmonary area. No ejection click was audible.
Remainder of systemic examination was normal.
The ECG of the patient showed right axis devia-
tion with features suggestive of right ventricular
hypertrophy (RVH) with strain pattern. P wave was
normal. There was right ventricular type of apex
on chest X-ray with normal pulmonary vascularity.
Transthoracic echocardiography (TTE) revealed
pulmonary artery branches were dilated with
hypoplastic main pulmonary artery (figure 1A). In
continuous wave Doppler across pulmonary valve
peak pulmonary artery systolic pressure gradient
was found to be 145 mm Hg (figure 1B) suggestive
of severe pulmonary stenosis (PS). Also, there was
a peak pressure gradient of 20 mm Hg was noted
in the subvalvular region in pulse wave Doppler
(figure 1C). TTE revealed RVH and a small 4 mm
patent foramen ovale (PFO) with left to right shunt.
There was no pulmonary regurgitation or patent
ductus arterisosus.
The girl was taken to cath lab after consent
obtained from her parents for cath study and RV
angiogram to determine the level of PS with intent
to balloon pulmonary vulvotomy, in case of valvar
PS. RV angiogram using 4French Pigtail (figure 2A,
B, blue arrow) catheter revealed supravalvular PS
Figure 1  Transthoracic echocardiography showing
(A) dilated branch pulmonary arteries with hypoplastic
main pulmonary artery (R=right pulmonary artery,
M=main pulmonary artery, L=left pulmonary artery) with
(B) peak pulmonary artery systolic pressure gradient of
145 mm Hg suggestive of severe pulmonary stenosis in
continuous wave Doppler and (C) peak pressure gradient
of 20 mm Hg was noted in the subvalvular region in pulse
wave Doppler.
Khanra D, et al. BMJ Case Rep 2019;12:e231008. doi:10.1136/bcr-2019-231008
BMJ Case Rep: first published as 10.1136/bcr-2019-231008 on 10 July 2019. Downloaded from http://casereports.bmj.com/ on June 22, 2022 by guest. Protected by copyright.
Figure 2  Right ventricular angiogram using 4French
Pigtail catheter (blue arrow) revealed supravalvular
pulmonary artery stenosis with hour-glass appearance
(red arrow) and thick hypertrophied subvalvular band
(yellow arrow) in right anterior oblique (A) and left lateral
(B) view.
with hour-glass appearance (figure 2A, B, red arrow)
with normally mobile pulmonary valve and good
RV function. There was also thick hypertrophied
subvalvular band (figure 2A, B, yellow arrow). No
other cardiac anomaly was detected.
The girl was referred to cardiothoracic surgeons
who resected the stenosing ridge, present just above
the sinotubular junction of the main pulmonary
artery along with autologous pericardial patch
augmentation avoiding the level of annulus. The
pulmonary valve was tricuspid with thickened,
non-stenosing leaflets and commissures were not
fused. Subvalvular stenosis was also dilated. Small
PFO was closed by direct suturing. Postoperatively,
residual peak systolic gradient was 5 mm Hg.
Transmission of rubella infection is highly prev-
alent across India, which can affect susceptible
pregnant mothers in communities and may lead to
congenital rubella syndrome in children. Congen-
ital rubella syndrome is a complex of congenital
anomalies that can affect multiple organ systems
and classically has been described to present with
a triad of sensorineural congenital deafness, bilat-
eral cataract and PS/patent ductus arteriosus.1 The
9-year-old girl with multiple level of PS in our case
did not have deafness or cataract but history of
having fever with rash in the first trimester of preg-
nancy in the mother is suggestive of having congen-
ital rubella syndrome of the girl.
Supravalvular PS is a rare anomaly character-
ised by the stenosis of main, central branch or
peripheral branch pulmonary arteries either in
combination or in isolation and is more commonly
seen with congenital rubella syndrome.1 Multiple
level stenoses is more common than an isolated
1
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obstruction in pulmonary artery.1 Isolated supravalvar PS is usually misdiagnosed as pulmonary valvular stenosis on TTE and

more commonly acquired, and occurs after surgical intervention
involving the main pulmonary artery.2 Although supravalvar
PS has been classically described in patients with Williams’
syndrome, its incidences had been quite rare. Rather, incidences
of supravavlular aortic stenoses are more common in patients
with Williams’ syndrome.3 The presence of a hypertrophied
ring of tissue at the sinotubular junction of the main pulmonary
artery is characteristic of supravalvar PS.4 The pulmonary valves
may be thickened due to persistent trauma by the blood jet.4 It is
Learning points
►► Supravalvular pulmonary stenosis (PS) is usually
misdiagnosed as pulmonary valvular stenosis on transthoracic
echocardiography and usually confirmed on cardiac
catheterisation and pulmonary angiography.
►► Supravalvular PS is a rare anomaly and most of the times
associated with multiple level of obstruction and congenital
rubella syndrome should always be suspected in such cases.
History of having fever with rash in the first trimester of
pregnancy of mother and no vaccination for rubella infection
in infancy would be more suggestive.
►► Surgical resection is the treatment of choice for supravalvar
PS. Balloon dilation and stenting is not recommended in
isolated supravalvar PS or in combination.
BMJ Case Rep: first published as 10.1136/bcr-2019-231008 on 10 July 2019. Downloaded from http://casereports.bmj.com/ on June 22, 2022 by guest. Protected by copyright.
usually confirmed on cardiac catheterisation.4
Surgical resection is the treatment of choice for supravalvar
PS with oval pericardial or Dacron patch.5 Balloon dilatation
fails most of the times because of the elastic recoil of the supra-
valvular ridge.6 Stenting should be avoided due to risk of stent
migrating to injure to pulmonary valve.6
Contributors  Conception, case report, discussion and critical appraisal: BD and DK.
Investigations: BD, YS, DK and SS. Revision: SS.
Funding  The authors have not declared a specific grant for this research from any
funding agency in the public, commercial or not-for-profit sectors.
Competing interests  None declared.
Patient consent for publication  Obtained.
Provenance and peer review  Not commissioned; externally peer reviewed.
References
1 Oster ME, Riehle-Colarusso T, Correa A. An update on cardiovascular malformations in
congenital rubella syndrome. Birth Defects Res A Clin Mol Teratol 2010;88:1–8.
2 Yuan SM. Supravalvular pulmonary stenosis: congenital versus acquired. Acta Medica
Mediterranea 2017;33:849.
3 Eronen M, Peippo M, Hiippala A, et al. Cardiovascular manifestations in 75 patients
with Williams syndrome. J Med Genet 2002;39:554–8.
4 Kumar V, Mahajan S, Jaswal V, et al. Surgical outcome of isolated congenital
supravalvular pulmonary stenosis: a case series. Eur Heart J;60.
5 Bacha EA, Kalimi R, Starr JP, et al. Autologous repair of supravalvar pulmonic stenosis.
Ann Thorac Surg 2004;77:734–6.
6 Fogelman R, Nykanen D, Smallhorn JF, et al. Endovascular stents in the pulmonary
circulation. Circulation 1995;92:881–5.

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2 Khanra D, et al. BMJ Case Rep 2019;12:e231008. doi:10.1136/bcr-2019-231008