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Year : 2020  |  Volume : 13  |  Issue : 4  |  Page : 403-405  

Pulmonary atresia with ventricular septal defect and major aorto-pulmonary collateral arteries in a young adult

Department of Radiodiagnosis, Dr. D.Y. Vidyapeeth, Pune, Maharashtra, India

Date of Submission30-Apr-2019
Date of Decision03-Sep-2019
Date of Acceptance15-Oct-2019
Date of Web Publication20-Jul-2020

Correspondence Address:
Rajshree U Dhadve
Flat No. 402, A Wing Anandibaug Phase II, Near Podar School, Kharalwadi, Pimpri, Pune - 411 018, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/mjdrdypu.mjdrdypu_118_19

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Pulmonary atresia with ventricular septal defect (PA-VSD) and pulmonary blood supply arising from the aorta in the form of major aortopulmonary collateral circulation (MAPCAs) surviving in the adulthood is a rare occurrence. It is usually fatal in the infancy without surgical repair. We report the case of a 25-year-old female with clinical and imaging findings of PA-VSD. She had previous episodes of cyanosis and exertional breathlessness which she could tolerate without much hampering of day-to-day activity. The current presentation was due to symptoms of bacterial infection which led to the diagnosis of the underlying complex cardiovascular malformation.

Keywords: Computed tomography pulmonary angiography, major aorto-pulmonary collaterals, pulmonary atresia, ventricular septal defect

How to cite this article:
Dhadve RU. Pulmonary atresia with ventricular septal defect and major aorto-pulmonary collateral arteries in a young adult. Med J DY Patil Vidyapeeth 2020;13:403-5

How to cite this URL:
Dhadve RU. Pulmonary atresia with ventricular septal defect and major aorto-pulmonary collateral arteries in a young adult. Med J DY Patil Vidyapeeth [serial online] 2020 [cited 2020 Dec 5];13:403-5. Available from: https://www.mjdrdypv.org/text.asp?2020/13/4/403/290155

  Introduction Top

Pulmonary atresia with ventricular septal defect (PA-VSD) is an extreme form of tetralogy of Fallot (TOF). TOF involves right ventricular outflow tract (RVOT) stenosis, whereas in PA-VSD, there is atresia of RVOT. PA-VSD is now regarded as a separate entity from TOF with its characteristic imaging findings and management problems.

The incidence of PA-VSD is 0.07/100 live births, according to the Baltimore Washington Infant Study (BWIS).[1]

It is very challenging for surgical repair due to complexity of the blood supply.

This case is rare as well-developed pulmonary circulation through major aorto-pulmonary collateral arteries (MAPCAs) helped the patient survive into adulthood till 25 years without any signs of heart failure.

  Case Report Top

A 25-year-old female patient presented with a history of cough with expectoration for 21 days, hemoptysis, and fever for 3 days. She also had a history of Grade I dyspnea for 1 year.

General examination revealed clubbing and central cyanosis in the fingers of both hands and toes. On cardiovascular examination, there were bilateral parasternal thrill and apical thrill. Auscultation showed Grade IV pansystolic murmur radiating to the axilla and back. With these features, the first possible diagnosis was TOF. Another differential was VSD with bidirectional shunt and severe pulmonary arterial hypertension (PAH).

Chest X-ray revealed cardiomegaly with upturned cardiac apex suggestive of right ventricular hypertrophy. Absent pulmonary conus gave the appearance of a boot-shaped heart. There was obliteration of left costophrenic angle suggestive of pleural effusion [Figure 1].
Figure 1: Chest X-ray posteroanterior view showing right ventricular hypertrophy and absent pulmonary conus giving boot-shaped configuration to heart. Also noted mild left pleural effusion

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The first clinical diagnosis after chest X-ray was TOF. No other differential could be thought.

Echocardiography (ECHO) revealed a ventricular septal defect, RVOT obstruction, right ventricular hypertrophy, and overriding aorta. Pulmonary artery could not be visualized. Hence, the diagnosis was some extreme form of TOF with variable combination of pulmonary arterial anatomy. ECHO provides adequate information about intracardiac malformation but is of limited value in the delineation of pulmonary arterial anatomy and aorto-pulmonary collaterals due to poor acoustic window. Two-dimensional ECHO could not provide adequate comprehensive anatomic demonstration for surgical planning. Hence, CT pulmonary angiography (CTPA) was advised.

CTPA revealed absent RVOT and origin of main pulmonary artery and left pulmonary artery, indicating PA [Figure 2]a and [Figure 2]b. The right pulmonary artery was visualized which was normal in caliber.
Figure 2: (a) Computed tomography angiography reconstructed sagittal maximum intensity projection images showing absent right ventricular outflow tract. (b) Computed tomography angiography axial sagittal maximum intensity projection image showing absent origin of main pulmonary and left pulmonary artery. Instead, a large major aorto-pulmonary collateral arteries is seen

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Large arterial channel representing MAPCAs (one on left) was seen arising from the descending thoracic aorta at D6 vertebral level supplying blood to the left upper lobe. It had a diameter of 11 mm throughout its course till the right main pulmonary artery. It was seen supplying the left upper lobe and dividing into segmental branches [Figure 3].
Figure 3: Computed tomography pulmonary angiography sagittal maximum intensity projection reconstructed image showing a large major aorto-pulmonary collateral arteries arising from the descending aorta

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It was also seen communicating to the right main pulmonary artery and thereby supplying blood to the right lung. Few small collateral vessels were noted arising from the above-mentioned MAPCA supplying the left lower lobe. Another two small collateral vessels were noted arising from the right lateral margin of the descending aorta at D4 vertebral level supplying the left upper lobe.

Also seen was a large anterior 2-cm-sized subaortic VSD, overriding of aorta, and right ventricular hypertrophy [Figure 4].
Figure 4: Computed tomography pulmonary angiography coronal reconstructed maximum intensity projection image showing a large subaortic ventricular septal defect and overriding of aorta (components of tetralogy of Fallot)

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In addition, patchy consolidation with air bronchogram suggestive of left lower lobe pneumonia and mild left pleural effusion was noted.

  Discussion Top

Various terms have been used for this condition, including pseudotruncus arteriosus, TOF with PA, and Type IV persistent truncus arteriosus.[2] According to the BWIS, association was found between PA-VSD with chromosomal anomaly and syndromes. These include DiGeorge syndrome, 22q11 microdeletion, VACTER, CHARGE, trisomy 13, 21, and Alagille syndrome. Ten-fold increased incidence was found in infants of diabetic mothers. In literature, there are four types of aorto-pulmonary circulation in patients of PA-VSD as described by Castenda et al.,[3] as shown in [Table 1].
Table 1: Four types of aorto-pulmonary circulation in patients of pulmonary atresia-ventricular septal defect

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A practical classification has been proposed by the Congenital Heart Surgeon's Society depending on the complexity of pulmonary blood supply and thus surgical repair.[2] It is classified into three types depending on the source of the pulmonary circulation.

In type A, there is presence of the native pulmonary arteries with a patent ductus arteriosus supplying blood to them. In type B, there is presence of both the MAPCAs and the native pulmonary arteries. In type C, only MAPCAs are seen providing the pulmonary blood supply with absent native pulmonary arteries.

MAPCAs are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. MAPCAs usually arise from the descending aorta but also can occasionally arise from the aortic arch and other systemic arteries such as the subclavian, the carotid, or even the coronary arteries.[4] They are seen in 30%–65% of patients with PA-VSD and are usually 2–6 in number.

Our patient comes under type 4 as per classification in [Table 1] and type C as per the classification proposed by the Congenital Heart Surgeon's Society. Patients with large MAPCAS and unrestricted pulmonary blood flow are more prone to develop PAH and congestive cardiac failure.

Final diagnosis in our case was PA-VSD. There was no other differential in this case. The most important determinant of survival was the presence of adequate but not excessive pulmonary blood supply through the development of MAPCAs. The patient received conservative treatment with antibiotics for pneumonia. Chest radiography findings were normal at follow-up visit after antibiotic course. The patient refused surgery due to poor financial condition.

Heterogeneity of pulmonary blood supply in PA-VSD patients limits the uniform applicability of management. However, the general principles of surgical repair include (1) placement of RV-PA conduit, (2) unifocalization of aorto-pulmonary collaterals connecting more lung segments to APCs, and (3) VSD closure.

The overall life expectancy in the absence of surgery is reported to be <50% at 1 year of age and 8% at 10 years. The mean life expectancy without surgery did not exceed three decades, with the oldest survivor ever reported in literature being 59 years old.[5]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their 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

Balaguru D, Dilawar M. Pulmonary atresia with ventricular septal defect: Systematic review. Heart Views 2007;8:52-61.  Back to cited text no. 1
  [Full text]  
Tchervenkov CI, Roy N. Congenital heart surgery nomenclature and database project: Pulmonary atresia – Ventricular septal defect. Ann Thorac Surg 2000;69:S97-105.  Back to cited text no. 2
Rome JJ, Mayer JE, Castaneda AR, Lock JE. Tetralogy of Fallot with pulmonary atresia. Rehabilitation of diminutive pulmonary arteries. Circulation 1993;88:1691-8.  Back to cited text no. 3
Liao PK, Edwards WD, Julsrud PR, Puga FJ, Danielson GK, Feldt RH. Pulmonary blood supply in patients with pulmonary atresia and ventricular septal defect. J Am Coll Cardiol 1985;6:1343-50.  Back to cited text no. 4
Fukui D, Kai H, Takeuchi T, Gondo T, Oba T, Mawatari K, et al. Longest survivor of pulmonary atresia with ventricular septal defect: Well-developed major aortopulmonary collateral arteries demonstrated by multidetector computed tomography. Circulation 2011;124:2155-7.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

  [Table 1]


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