Case Report

World Journal for Pediatric and

Congenital Heart Surgery
Absent Pulmonary Valve: A Case With 2014, Vol. 5(4) 627-630
ª The Author(s) 2014
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DOI: 10.1177/2150135114536745
Bioprosthetic Valve Replacement pch.sagepub.com

Mallesh Kariyappa, DM1, Navin Agrawal, DM1, B. C. Srinivas, DM1,

K. S. Ravindranath, DM1, and C. N. Manjunath, DM1

Abstract
Congenital absence of the pulmonary valve is a rare congenital cardiac malformation, usually seen in association with tetralogy of
Fallot. Patients generally present early in life with respiratory distress or recurrent respiratory tract infections, failure to thrive,
cyanosis, infective endocarditis, or heart failure. Isolated absent pulmonary valve is quite rare and may be discovered in older
age-group as in our patient, a nine-year-old male child who presented with atypical symptoms of exertional chest pain. Unusual
echocardiographic features in this case include intact ventricular septum and prominent trabeculations of the right ventricle.
Surgical implantation of a bioprosthetic valve was followed by hemodynamic and symptomatic improvement.

Keywords
APV without TOF, APV/trabeculation, pulmonary bioprosthesis

Submitted November 21, 2013; Accepted April 28, 2014.

Introduction months. There was no history of giddiness, loss of conscious-

ness, fever, swelling of lower limbs, orthopnea, convulsions,
Absent pulmonary valve (APV) is an uncommon congenital
or abnormal movements.
heart malformation, usually occurring in patients with tetralogy The general physical examination was normal with no dys-
of Fallot (TOF). It occurs both in syndromic cases with 22q
morphic features. Percutaneous oximetry revealed saturation of
deletion syndrome and in nonsyndromic cases. Rarely, APV
98% in room air. There was no pallor, clubbing, or pedal
is observed in cases without intracardiac anomalies such as
edema. Jugular venous pulse was normal. There was a precor-
ventricular septal defects or atrial septal defects. Although
dial bulge and left parasternal lift of grade 2/3. Harrison’s sul-
manifestations of respiratory distress and respiratory infections
cus was present. A right ventricular-type impulse was present
predominate among presenting signs and symptoms, it can
in the fifth intercostal space at the left mid-clavicular line. Pul-
rarely manifest with exertional chest pain. We present the case
sation and thrill were present in the left second, third, and
of a patient with an absent pulmonary valve with an unusual fourth intercostal spaces and suprasternal space and epigastric
clinical and echocardiographic presentation.
region. The first heart sound (S1) was heard with normal inten-
sity. The second heart sound (S2) was single, masked by the
murmur. A grade 4/6 to-and-fro murmur, high-pitched, harsh,
Case Summary mixed frequency was heard in the left third intercostal space
Our patient was a nine-year-old male who was the fourth issue radiating to all over the precordium including the right lower
of nonconsanguineously married couple. The child presented sternal border.
with history suggestive of lower respiratory tract infection
occurring with a frequency of five or six episodes per year from
three months of age. Despite this clinical history, he had never 1
Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences
been evaluated before at a referral center. The parents had and Research, Bengaluru, Karnataka, India
noted growth failure in comparison to siblings and peers from
the age of three years. At presentation to our center at the age of Corresponding Author:
Navin Agrawal, Department of Cardiology, Sri Jayadeva Institute of
nine years, exertional chest pain was reported by the patient as Cardiovascular Sciences and Research, Bannerghatta Road, Jayanagar 9th
a prominent symptom. Exertional fatigability of New York Block, Bangalore 69, Karnataka, India.
Heart Association class II had been present for the last three Email: [email protected]

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628 World Journal for Pediatric and Congenital Heart Surgery 5(4)

Abbreviations and Acronyms

APV absent pulmonary valve
ADA absent ductus arteriosus
CHD congenital heart disease
TAP transannular patch
TOF tetralogy of Fallot

Figure 2. Apical four-chambered view showing trabeculated right

ventricle.

Figure 1. Parasternal short-axis view of the transthoracic echocar-

diogram showing the grossly dilated pulmonary arteries.

The biochemical and laboratory investigations were normal,

and electrocardiogram showed sinus rhythm, normal axis, and poor
R wave progression with incomplete right bundle branch block.
Echocardiogram showed a dilated right ventricle and right
atrium. The main pulmonary trunk, left pulmonary artery, and
right pulmonary artery were massively dilated. Only rudimen-
tary pulmonary valve elements were observed at the right
ventriculoarterial junction (Figure 1; video 1). There were
prominent trabeculations in the right ventricle, which is not
a typical characteristic feature of the disease. (Figure 2; video
2). Color Doppler revealed severe pulmonary regurgitation Figure 3. Continuous wave Doppler across the pulmonary valve
into the entire right ventricular outflow tract (Figure 3; video showing the pulmonary regurgitation jet.
3). Color flow was observed in deep trabeculations. Tricuspid
annulus planar systolic excursion was 14 mm. There was no
intracardiac shunt and no tricuspid regurgitation. Left ventri- There were no postoperative complications following sur-
cular systolic function was normal. The diagnosis of congeni- gery. The patient improved symptomatically following surgery
tal heart disease (CHD) with APV was made. The patient and has been hemodynamically stable and remains well and
underwent surgical implantation of a bioprosthetic valve in free of symptoms at six months of follow-up.
the pulmonary position (Carpentier Edwards aortic type bio-
prosthetic valve of 27-mm size) under cardiopulmonary
bypass. Plication and reduction in the size of the main pul- Discussion
monary trunk and the right and left pulmonary arteries were Congenital absence of the pulmonary valve was first described
performed in order to reduce the wall tension and prevent the by Chevers in 1843.1,2 Stenosis of the pulmonary artery orifice
pulmonary arteries from becoming aneurysmally dilated and and aneurysmal dilatation of pulmonary arteries are common
in hopes of decreasing the chance of bronchial compression. features of this entity . It may occur as an isolated anomaly
The plication of the pulmonary arteries was done using stan- as in our case or as a part of a genetic syndrome. The most com-
dard technique of resection of triangular segments of the ante- mon association of APV is TOF with absent ductus arteriosus
rior wall of each pulmonary artery and the pulmonary artery (ADA; Fallot type APV/ADA). Absent pulmonary valve with
trunk. The magnitude and extent of reduction was calibrated intact ventricular septum or muscular ventricular septal defect
over Hegar dilators. with persistent ductus arteriosus (non-Fallot type APV/PDA) is

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Kariyappa et al 629

much less common. Isolated APV in nonsyndromic patients is survived after appropriate and immediate postnatal interven-
generally sporadic. In contrast, APV in association with TOF tion in highly specialized centers.8
and absence of the ductus arteriosus is commonly associated Management includes both medical and surgical aspects.
with DiGeorge syndrome or velocardio facial syndrome and Respiratory support is often required in cases of severe distress
will have 22q11.2 micro deletion. The overall frequency of in the neonatal period. There are various surgical methods for
APV syndrome is unknown. However, Fallot type APV/ADA treatment of APV syndrome. In general, these include pulmon-
has an estimated incidence of 2 per 1,000 live births with CHD. ary arterioplasty to decrease bronchial obstruction, with or
Absent pulmonary valve is usually associated with a ventri- without pulmonary valve placement. Pulmonary valve place-
cular septal defect, most commonly the malalignment-type ment is recommended by some, especially in severely sympto-
ventricular septal defect of TOF. Other associated congenital matic patients. Techniques include use of a valved conduit,
heart defects reported are atrial septal defect, patent ductus transannular patch (TAP) insertion alone, or TAP with mono-
arteriosus, atrioventricular canal defects, tricuspid atresia, cusp valve, in combination with pulmonary artery reduction
mitral atresia, aneurysm of sinus of Valsalva, single coronary arterioplasty.9-11
artery, and Marfan’s syndrome. Most symptoms are caused The method of choice is controversial, and management may
by respiratory distress or infection secondary to airway be tailored to the requirements of an individual patient. Sympto-
obstruction resulting from bronchial compression by the dilated matic infants, in particular, have a guarded prognosis because of
pulmonary arteries or by intractable cardiac failure.3 The pres- severe central pulmonary artery dilatation and bronchial com-
ence of cyanosis depends on the size of the ventricular septal pression.10,11 Insertion of a homograft valve with anterior and/
defect and the degree of right ventricular outflow obstruction. or posterior plication of the pulmonary artery is considered,
Our patient had minimal outflow obstruction and no ventricular especially in symptomatic newborns and infants. Some individ-
septal defect, and the patient maintained a normal systemic ual centers have reported excellent outcomes, even in the young-
arterial saturation. Exertional chest pain is a rare manifestation est age group of patients, with resolution of respiratory
of APV syndrome, which, as in this case, could be due to symptoms in the majority of them.12 For cases of APV with tet-
demand/supply mismatch or dilated pulmonary artery. Electro- ralogy of Fallot with important compression of the central air-
cardiographic abnormality may be absent. The presence of ways, a technique has been suggested which includes
incomplete right bundle branch block associated with right translocation of the pulmonary artery confluence anterior to the
ventricular hypertrophy, as present in our case, can be of value aorta and away from the airways. This technique has the poten-
in differentiating congenital APV from TOF.4 Either pulmon- tial to decrease or abolish bronchial compression by the pulmon-
ary air entrapment with emphysema or atelectasis may result ary artery.
from the obstruction of the respective bronchus resulting from In our case of isolated APV, the potential for symptom-
compression by the dilated pulmonary artery branches. Gross free, long-term survival is predicated upon the elimination
dilatation of the pulmonary artery and its branches with an of both obstruction and regurgitation at the level of the right
abrupt transition in caliber between the main trunks and their ventricle to pulmonary artery junction and reduction in the
immediate branches is typical of this malformation.5-7 Echo- caliber of the dilated central pulmonary arteries to eliminate
cardiography is considered the primary diagnostic method, airway compression.3
with pathognomonic features including the presence of only
rudimentary pulmonary valve tissue, dilation of the main pul-
monary trunk (calibre greater than that of aorta) and branches, Conclusion
enlargement of the right ventricle, and color flow Doppler find-
ings consistent with acceleration at the level of the pulmonary Absent pulmonary valve is a rare congenital abnormality, usu-
annulus and rudimentary pulmonary valve leaflets. In the most ally presenting in association with TOF and less commonly
common variety (APV with tetralogy of Fallot), the echo find- without associated cardiac abnormalities. With advances in
ings also include a malalignment type of ventricular septal surgery, patients with APV can be safely treated using various
defect and aortic override. In addition, our patient had right surgical methods including placement of a bioprosthetic valve.
ventricular hypertrabeculation consistent with noncompaction The long-term prognosis is generally good, provided the condi-
which, to the best of our knowledge, has not been reported so tion is addressed sufficiently early that recovery of right ventri-
far in patient with APV. cular function and airway function may be anticipated.
Evaluation with more advanced imaging modalities such as
high-resolution computed tomography and cardiac magnetic Declaration of Conflicting Interests
resonance imaging may be particularly useful to assess the
The author(s) declared no potential conflicts of interest with respect to
more distal pulmonary arterial tree and the airway but routinely the research, authorship, and/or publication of this article.
is not required. In view of the increased intrauterine and peri-
natal mortality, the importance of prenatal screening and diag-
nosis with fetal echocardiography has also been stressed in Funding
several studies. Razavi and associates reported a series of 24 The author(s) received no financial support for the research, authorship,
fetuses with APV syndrome of which only 3 (15%) eventually and/or publication of this article.

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630 World Journal for Pediatric and Congenital Heart Surgery 5(4)

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The online videos are available at http://wjpchs.sagepub.com/ pulmonary valve. Report of eight cases with review of the litera-
supplemental ture. Am J Roentgenol Radium Ther Nucl Med. 1969;106(1):
58-69.
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