Tetralogy of fallot with absent pulmonary valve with anomalous origin of the right pulmonary artery from ascending aorta

Varun V Nivargi; Vihita Kulkarni; CN Makhale

doi:10.4103/astrocyte.astrocyte_50_16

CASES OF THE QUARTER - CLINICS IN PEDIATRIC CARDIOLOGY

Year : 2016 | Volume : 3 | Issue : 3 | Page : 171-173

Tetralogy of fallot with absent pulmonary valve with anomalous origin of the right pulmonary artery from ascending aorta

Varun V Nivargi¹, Vihita Kulkarni², CN Makhale¹
¹ Ruby Hall Clinic, Pune, Maharashtra, India
² Department of Medicine, Poona Hospital, Pune, Maharashtra, India

Date of Web Publication

27-Feb-2017

Correspondence Address:
Dr. Varun V Nivargi
Ruby Hall Clinic, Pune, Maharashtra
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/astrocyte.astrocyte_50_16

Abstract

A 12 year old boy presented with history of cyanotic congenital heart disease with dyspnea on exertion since last 9 years. Patient was diagnosed as a case of Tetralogy of Fallot 5 years before he came to us and he had underwent a palliative Blalock Taussig Thomas shunt for the same. An intracardiac repair was attempted 4 years back which was abandoned due to unknown reasons. His symptoms persisted after the two procedures. On admission to our hospital a detailed echocardiogram was done that showed Tetralogy of Fallot with absent pulmonary valve with post stenotic dilatation of left pulmonary artery and an anomalous origin of right pulmonary artery from ascending aorta with a blocked B-T shunt. A high risk intracardiac repair was advised.

Keywords: Absent pulmonary valve, anomalous right pulmonary artery, tetralogy of Fallot

How to cite this article:
Nivargi VV, Kulkarni V, Makhale C N. Tetralogy of fallot with absent pulmonary valve with anomalous origin of the right pulmonary artery from ascending aorta. Astrocyte 2016;3:171-3

How to cite this URL:
Nivargi VV, Kulkarni V, Makhale C N. Tetralogy of fallot with absent pulmonary valve with anomalous origin of the right pulmonary artery from ascending aorta. Astrocyte [serial online] 2016 [cited 2023 May 28];3:171-3. Available from: http://www.astrocyte.in/text.asp?2016/3/3/171/201000

Introduction

Tetralogy of Fallot (TOF) with absent pulmonary valve (TOF-APVS) is a rare congenital anomaly characterized by features of TOF, with either rudimentary ridges or complete absence of pulmonic valve tissue and usually with a hypoplastic pulmonary valve annulus. Congenital absence of the pulmonary valve with an intact ventricular septum occurs, however, it is much less common. The absence of mature pulmonary valve tissue leads to severe pulmonary regurgitation, which is often associated with massive dilatation of the proximal branch pulmonary arteries and is characteristic of this syndrome.

Case Report

A 12-year-old boy presented with a history of cyanotic congenital heart disease with dyspnea on exertion since last 9 years. The symptoms were New York Heart Association class 2 at the beginning, which gradually progressed to NYHA class 3 along with repeated respiratory tract infections.

Patient was diagnosed to have TOF in a rural hospital and was advised B-T shunt, which was done 5 years ago, followed by an attempted intracardiac repair after 1 year which was abandoned due to an unknown reason.

He was referred to us for a second opinion. Cardiac color Doppler showed TOF with absent pulmonary valve and post-stenotic dilatation of the left pulmonary artery with the right pulmonary artery arising from the ascending aorta and a blocked B-T shunt [Figure 1].

Figure 1: Angiography with pigtail in the ascending aorta showing anomalous right pulmonary artery arising from the ascending aorta with the right aortic arch.

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Cardiac catheterization was done which showed a systemic right pulmonary artery pressure and left pulmonary artery pressure of 30/10 mmHg [Figure 2]. Patient was advised high-risk intracardiac repair, however, he was lost to follow up [Figure 3].

Figure 2: Angiography in AP view showing pulmonary regurgitation, absent right pulmonary artery, and post-stenotic dilatation of the left pulmonary artery

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Figure 3: Angiography with a pigtail in the left pulmonary artery in the lateral view showing pulmonary regurgitation absent right pulmonary artery and post-stenotic dilatation of the left pulmonary artery.

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Discussion

A total of 3–6% of patients with TOF have APVS. The massive dilatation of the pulmonary artery is associated with compression of the bronchial tree and the development of bronchomalacia, which explains the associated respiratory symptoms of this condition. The highly pulsatile flow through the pulmonary arteries may result in aneurysmal dilation. Patients with TOF-APVS can be divided into two groups. The first group presents in the neonatal period with respiratory distress, which is attributed to compression of the tracheobronchial tree by the aneurysmal pulmonary arteries. These patients require early surgery to avoid morbidity and death from respiratory distress and heart failure. The second group of patients are less symptomatic in infancy and may be identified later in life with symptoms of congestive heart failure or classic TOF cyanotic spells. These patients can be managed similar to other patients with TOF and can undergo elective repair.

APV leaflets and anomalous origin of a pulmonary artery from the ascending aorta have been reported as separate lesions associated with TOF but not in combination.^[6]

Pulmonary artery arising from the aorta was first described by Fraentzel in 1868, and since then, approximately, 131 cases have been reported.^[1]

Normally, in TOF, the lung pressure is low. The anomalous origin of the pulmonary artery from aorta results in severe pulmonary artery hypertension in the concerned lung and requires early surgery to avoid pulmonary vascular disease. In our case, the associated right pulmonary artery arising from the ascending aorta was missed at the initial stage resulting in delayed accurate management.

Anomalous right or left pulmonary artery arising from the aorta are relatively rare congenital heart disease entities. There are several reports, mostly describing anomalous right pulmonary artery arising from the posterior aspect of the ascending aorta.^[2] The clinical presentation is in early childhood with congestive cardiac failure and with the onset of early pulmonary hypertension. In some cases, there is an absence of cardiac failure or a very short period of failure followed by the development of pulmonary vascular disease.

This rare disease occurs because of failure of migration of the embryonic branch pulmonary artery to reach the pulmonary trunk end of the truncoaortic sac before septation occurs. Associated anomalies with an anomalous right pulmonary artery include patent ductus arteriosus (PDA), interrupted aortic arch (IAA), aortopulmonary window (AP window). TOF tends to be associated with a left anomalous pulmonary artery arising from the aorta. The origin of the pulmonary artery from the ascending aorta is responsible for a great left-to-right shunt at the systemic pulmonary level.

Pulmonary hypertension has been described as starting early in most of the cases reported, and intervention is mainly carried out in infancy, although there are rare cases of nonoperated survivors in adulthood with apparently normal pressures in the lungs.^[3]

If radiographic study shows a disproportionate or unilateral increase in pulmonary vasculature, this condition should be considered. If patent ductus arteriosus are present, a difference in color and clubbing in the arms might be evident.

The diagnosis may be established on suprasternal views of two-dimensional echocardiography ^[4] when a vessel originates posteriorly from the ascending aorta. In these cases, the possibilities of aortopulmonary window and truncus arteriosus should be ruled out. Thus, lack of normal bifurcation of the pulmonary trunk is required. In situ ations where the anomalous pulmonary artery originates from the lateral face of the ascending aorta, the subcostal views allow the diagnosis to be made very safely.^[5]

Angiocardiography is of prime importance and the only certain method of delineating the anomaly. Various types of surgical techniques are employed for repairing the anomalous pulmonary arteries, with the most frequently employed being direct anastomosis. Alternative techniques include end-to-end anastomosis with a synthetic graft, interposition with a homograft patch, aortic flap, etc., The results in the neonatal period have been promising, however due to the rarity of this lesion, it is difficult to predict the optimal timing or the best repair technique.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Prifti E, Bonacchi M, Murzi B, Crucean A, Leacche M, Bernabei M, et al. Anomalous right pulmonary artery from the ascending aorta. J Card Surg 2004;19:103-12.
2.	Kutsche LM, Van Mierop LH. Anomalous origin of a pulmonary artery from the ascending aorta: Associated anomalies and pathogenesis. Am J Cardiol 1988;61:850-6.
3.	Prasad K, Radhakrishnan S, Mittal PK. Anomalous origin of the left pulmonary artery from the aorta in an adult as an isolated anomaly: A case report. Int J Cardiol 1993;38:326-9.
4.	Duncan WJ, Freedom RM, Olley PM, Rowe RD. Two-dimensional echocardiographic identification of hemitruncus: Anomalous origin of one pulmonary artery from ascending aorta with the other pulmonary artery arising normally from the right ventricle. Am Heart J 1981;102:892-6.
5.	Smallhorn JF, Anderson RH, Macartney FJ. Two-dimensional echocardiographic assessment of communications between ascending aorta and pulmonary trunk or individual pulmonary arteries. Br Heart J 1982;42:563-72.
6.	Calder AL, Brandt PW, Barratt-Boyes BG, Neutze JM. Variant of tetralogy of fallot with absent pulmonary valve leaflets and origin of one pulmonary artery from the ascending aorta. Am J Cardiol 1980;46:106-16.