Br Heart J 1990;64:325-8

Tetralogy of Fallot with anomalous pulmonaryvenous connections: a rare but clinically importantassociation

Andrew N Redington, Joseph Raine, Elliot A Shinebourne, Michael L Rigby

AbstractAnomalous pulmonary venous connec-tions were found in seven (0-6%) of 1183patients with tetralogy of Fallot. Threepatients had totally anomalous connec-tions (one supracardiac, one direct tocoronary sinus, and one mixed supracar-diac and infracardiac) and four patientshad partially anomalous pulmonaryvenous connections. All patients presen-ted with the clinical features of tetralogyof Fallot. Anomalous pulmonary venousdrainage was suspected clinically in onlyone patient in whom there was ascimitar sign on the chest radiograph.The exact diagnosis was established bycross sectional echocardiography (one),preoperative or postoperative angiogra-phy (five), or at necropsy (one). Surgerywas performed in six patients. Totalcorrection without re-routing of theanomalously draining veins was success-ful in all those with partially anomalousconnections, with no significant longterm sequelae (follow up median 17years). Of those with totally anomalousconnections, the full diagnosis was madeonly at necropsy in one patient,successful one-stage correction was per-formed in one, and the other patient,who had partially obstructed mixeddrainage, died shortly after one-stagecorrection. Histological examination ofthe lung biopsy specimen in this patientshowed grade 2 pulmonary vasculardisease.Tetralogy of Fallot with anomalous

pulmonary venous connections is a rareassociation. Careful preoperative assess-ment is required in those with totallyanomalous connections.

Royal Brompton andNational HeartHospital, LondonA N RedingtonJ RaineE A ShineboumneM L RigbyCorrespondence toDr Andrew N Redington,Department of PaediatricCardiology, Royal Bromptonand National Heart Hospital,Fulham Road, London SW36HP.Accepted for publication31 May 1990

There are scattered reports describing theassociation of tetralogy of Fallot with totallyanomalous pulmonary venous connections.`With fewer than 10 published cases this is an

infrequent association that is rarely suspectedclinically. Its diagnosis by cross sectionalechocardiography has not been reported, butthe complete diagnosis has been made at thetime of cardiac catheterisation,4 correctivesurgery,5 or necropsy.6 Furthermore, there are

few data on the incidence and association oftetralogy of Fallot with partially anomalouspulmonary venous connections.' We reviewedall cases of tetralogy of Fallot with anomalous

pulmonary venous connections seen at theBrompton and National Heart Hospitals inthe past 20 years.

Patients and methodsWe reviewed the records of 1183 patients witha diagnosis of tetralogy of Fallot investigatedat the Brompton and National Heart Hospitalsin the past 20 years. Only patients with atrialsitus solitus were reviewed; we excluded thosewith isomerism of the atrial appendages.

Seven patients (0.6%) had abnormalities ofpulmonary venous connection. Their ages atpresentation ranged from three days to fourmonths. In only one was the complete diag-nosis made by cross sectional echocardiogra-phy. In the remainder the diagnosis was madeeither at the time of cardiac catheterisation(four patients), corrective surgery and latercardiac catheterisation (one), or at necropsy(one).

Case reportsThe table gives the clinical data, full sequen-tial diagnosis, and outcome for each of theseven patients.

THREE CASES OF TETRALOGY OF FALLOT WITHTOTALLY ANOMALOUS PULMONARY VENOUSCONNECTIONCase 1A 3 year old boy, cyanosed from early infancy,was referred after cardiac catheterisation else-where. The cineangiograms confirmed thepresence of tetralogy of Fallot with severeobstruction of the right ventricular outflowtract caused by anterior deviation of the outletseptum and stenosis of the pulmonary valve.Selective injections into normal-sized rightand left pulmonary arteries showed unsuspec-ted mixed pulmonary venous connections, theright lower lobe and all the left sided pulmon-ary veins forming a confluence and draininginfradiaphragmatically, and the right upperand middle pulmonary veins draining to thesuperior caval vein at its junction with theinnominate vein (fig 1). Haemodynamicmeasurements showed that the pulmonaryartery pressure was 45/22 mm Hg with rightand left ventricular pressures of 75/8 mm Hg.His aortic oxygen saturation was 73%.Complete correction of tetralogy of Fallot

with anastomosis of the pulmonary venousconfluence to the left atrium was performed.A stenosis of the insertion of the right upperand middle pulmonary veins into the superior

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Data on each of the seven patients

Age atCase Sex presentation Clinicalfeatures Asscociated abnormalities Operation Outcome

1 M 4 months Cyanosis and heart murmur Mixed supracardiac and One-stage correction age 4 Died after operation. Lunginfracardiac TAPVC histology showed grade 2

pulmonary vascular disease2 M 12 hours Dysmorphic features, Absent pulmonary valve Not performed Died of respiratory failure at

cyanosis, respiratory syndrome and TAPVC to 30 hours of agedistress, heart murmur coronary sinus

3 M 3 days Cyanosis and heart murmur Supracardiac TAPVC, left One-stage correction age 9 Well 9 months after operationvertical vein to innominate monthsvein

4 M 4 months Cyanosis and heart murmur Scimitar syndrome. Right Correction of TOF age 9 Well 1 year after operationhemianomalous drainage yearsto hepatic vein

5 M 1 month Cyanosis and heart murmur Right upper lobe vein to Blalock-Taussig shunt age 3 Well 17 years after operationSVC months, correction of

TOF age 18 years6 F 4 months Cyanosis and heart murmur Right upper lobe vein to Waterston shunt age 7 years, Well 17 years after operation

SVC correction ofTOF age 9years

7 F 2 months Cyanosis, heart murmur, and Right upper and middle lobe Correction ofTOF age 10 Short of breath on exertion 26respiratory tract infections veins to SVC years years after operation

TOF, tetralogy of Fallot; APVC, anomalous pulmonary venous connections; TAPVC, total anomalous pulmonary venous connections; SVC, superior vena cava.

caval vein was relieved by a patch but theseveins were left to drain anomalously. Theimmediate postoperative course was com-plicated by severe recurrent and refractorypulmonary hypertensive crises. He died fourhours after operation.Necropsy confirmed a satisfactory surgical

repair but histological examination of the lungparenchyma showed Heath-Edwards grade IIpulmonary vascular disease with a considera-ble increase in arteriolar wall smooth muscle.There was no intimal hyperplasia or vesselobliteration.

Case 2A full term baby (birth weight 2 9 kg) wasborn with multiple dysmorphic featuresincluding low-set ears, flat nose, absent leftthumb, and a rudimentary fifth ulnar digit.He was referred at 12 hours of age because ofsevere cyanosis. He had been intubated andventilated because of increasing respiratorydistress and severe cyanosis (P02 = 3-1 kPa in500o inspired oxygen) despite infusion ofprostaglandin E2. The chest radiographshowed a normal heart size, pulmonary oli-gaemia, and hyperinflation of the left lungwith mediastinal shift towards the right. Crosssectional echocardiography showed abdominalsitus solitus, with a concordant atrio-

ventricular connection. There was tetralogy ofFallot with features typical of absent pulmon-ary valve syndrome. There was severe infun-dibular stenosis and very large confluentmain, right, and left pulmonary arteries. Thepulmonary venous drainage was not clearlydisplayed.There was rapid deterioration in the child's

condition with gross obstuctive emphysema ofboth lungs. It was thought that surgicalcorrection was inappropriate in view of hispoor condition, severe respiratory symptoms,and probable chromosomal disorder and hedied at 30 hours of age. Necropsy confirmedthe underlying diagnosis of tetralogy of Fallotwith absent pulmonary valve syndrome andalso showed totally anomalous pulmonaryvenous connection to the coronary sinus. Thepulmonary veins were small. Subsequentchromosomal analysis showed a deletion onchromosome 15 with a mosaic loss of the Ychromosome.

Case 3A 3 day old neonate was referred because ofpersistent cyanosis. The clinical findings werecompatible with isolated tetralogy of Fallot.

Cross sectional echocardiography showedfeatures typical of tetralogy of Fallot. Therewas, in addition, supracardiac totally

Figure 1 Selectivepulmonary arteriogram(A) and laevophaseexamination (B) frompatient 1. There was amixed totally anomalouspulmonary venousconnection. Thepulmonary veinsfrom theright upper and middlelobes drained directly tothe superior vena cava.The right lower lobe veindrained toform aconfluence with the veinsfrom the left lung whichdrainedinfradiaphragmaticallyvia a common vein. PA,pulmonary artery; PVC,pulmonary venousconnection.

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Tetralogy of Fallot with anomalous pulmonary venous connections: a rare but clinically important association

Figure 2 Cross sectionalechocardiograms frompatient 3. The subcostal4 chamber section (A)shows the pulmonaryvenous confluence (pvc)outside the left atrium(LA). The suprasternalparacoronal section (B)shows the left vertical vein(VV) draining to theinnominate vein. RA,right atrium; LV, leftventricle; R V, rightventricle.

anomalous pulmonary venous connection withthe pulmonary venous confluence draining viaa left sided vertical vein to the left innominatevein (fig 2). Phasic but low velocity flow wasshown in the pulmonary veins by Dopplerinterrogation.He remained moderately cyanosed but was

otherwise well. Cardiac catheterisation wasperformed when he was nine months old toconfirm that he was suitable for completecorrection. Surgery was performed elsewherewhen he was 10 months old. His early post-operative course was complicated by low car-diac output and bilateral pleural effusionswhich resolved during the first postoperativeweek. He has subsequently made a fullrecovery and is now symptom free nine monthsafter operation.

TETRALOGY OF FALLOT WITH PARTIALLYANOMALOUS PULMONARY VENOUS CONNECTIONSAll of the patients in this group presented withcyanosis in the first four months of life and hadcardiac catheterisation before complete correc-

tion. Cross sectional echocardiography wasperformed before correction in only one patient(the others having been investigated before theintroduction of the technique). In this casethere was a hypoplastic right lung on the chestradiograph and no pulmonary veins thatdrained normally from the right lung could beshown by cross sectional echocardiography.Subsequent cardiac catheterisation withangiography showed a scimitar syndrome, withthe pulmonary venous return from the hypo-plastic right lung draining infradiaphrag-matically to a hepatic vein. The right pulmon-ary artery was hypoplastic. The arterial bloodsupply to the right lower lobe was from anartery arising from the descending aorta (fig 3).The presence of anomalous venous drainagewas noted in one other patient before operation(right upper lobe pulmonary vein to superiorcaval vein (patient 6). This patient made anuncomplicated recovery after a Waterstonshunt performed at the age of seven years. Inpatient 7 anomalous drainage of right middleand upper lobe veins to the junction of the rightsuperior caval and azygous veins was detectedduring a corrective operation. In patient 5 aright upper lobe vein draining to the rightsuperior vena cava was shown only at routinepostoperative cardiac catheterisation.

All ofthese patients have undergone success-ful complete correction of tetralogy of Fallot.There was no attempt to re-route theanomalous pulmonary veins in any of thepatients. Follow up ranges from five months to26 years (median 17 years). All are leadingnormal lives and three are entirely symptomfree. One patient is short of breath on vigorousexertion (case 7). This patient was found tohave an atrial septal defect ofmoderate size andresidual obstruction of right ventricular out-flow tract that required further operation. Thiswas performed 23 years after the originalrepair; again no attempt was made to re-routethe anomalous pulmonary veins.

DiscussionThis study describes the clinical features andoutcome of seven patients with tetralogy ofFallot and anomalous pulmonary venous con-nections. This was an uncommon associationthat occurred in 0 6% of the patients withtetralogy of Fallot seen at our hospitals in thepast 20 years.

Figure 3 Selective rightpulmonary arteriogram(RPA) from the patientwith scimitar syndrome(A). Hemianomalouspulmonary venousdrainage (PV) of theright lunginfradiaphragmatically tothe hepatic vein (B). Anangiogram of thedescending aorta (C). Thesystemic blood supply tothe right lower lobe wasabnormal (arrow).

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328 Redington, Raine, Shinebourne, Rigby

All of the patients presented with clinicalfeatures compatible with isolated tetralogy ofFallot. This is because reduced pulmonaryblood flow is the dominant lesion, even whenpulmonary venous return is obstructed.' Inonly one patient, in whom there was a hypo-plastic right lung and a scimitar vein on thechest radiograph, was the possibility ofanomalous pulmonary venous drainage suspec-ted clinically.When there is totally anomalous pulmonary

venous drainage early diagnosis of anomalouspulmonary venous return is particularly desir-able, although previous reports have high-lighted the difficulties in the non-invasivediagnosis of this association.26 In one of ourpatients the diagnosis was established by crosssectional echocardiography, a pulmonaryvenous confluence and vertical vein draining tothe innominate vein being shown clearly.However, cross sectional echocardiography inour patient with coexisting absent pulmonaryvalve syndrome did not show totally anomalouspulmonary venous connection to the coronarysinus. This patient died from severe respiratorycomplications and at necropsy very small pul-monary veins, again reflecting decreased pul-monary blood flow, were seen connecting to thecoronary sinus.This combination of anomalies thus

represents a considerable diagnostic challengeto the clinician. There are considerable prac-tical implications to the diagnosis. It wouldclearly be undesirable to perform palliativesurgery to increase pulmonary blood flow if thepulmonary venous return was obstructed.Muster and coworkers described just such acase, in which fatal intractable pulmonaryoedema developed after a Potts anastomosis,there being only a 15 mm aortopulmonaryanastomosis at subsequent necropsy.' Despite aclinical picture of reduced pulmonary bloodflow, important changes in pulmonary vas-culature developed in our three year old patientwith partially obstructed mixed drainage. Thispatient was referred from another hospital andno formal measurements of pulmonary vas-cular resistance had been made. None the lessraised pulmonary artery diastolic pressureshould raise the possibility of pulmonary vas-cular disease in such a patient. It would beimpractical for all patients with tetralogy ofFallot to have cardiac catheterisation beforepalliative surgery, however. We suggest thatangiography should be considered in patientswhen cross sectional echocardiography fails todemonstrate clearly the pulmonary venousconnections.Echocardiography is likely to be even less

sensitive when there is partially anomalouspulmonary venous drainage. It is perhaps lessimportant to establish the diagnosis beforepalliative surgery under these circumstances. Itis more likely that one or two anomalouslydraining veins will be detected at the time ofcardiac catheterisation and angiography beforecomplete correction. Their clinical importanceis limited, however. Complete correction with-out re-routing of the anomalous veins can beperformed safely. While this will inevitablyresult in a degree of excess volume load to theright ventricle, the long term follow up in our

older patients suggests that this has little effecton symptoms or functional state. Only one ofour patients had a hemianomalous pulmonaryvenous connection (case 4). This patient had ascimitar syndrome with a hypoplastic rightlung and pulmonary artery. Pulmonary bloodflow and hence venous return was limited andso correction of tetralogy of Fallot without re-routing of the anomalous pulmonary veins wasthought to be appropriate. In other patientswhere the pulmonary venous return from anentire lung may drain anomalously, attempts torestore drainage to the left atrium shouldprobably be pursued.When pulmonary venous drainage is totally

anomalous it should be possible to perform aone-stage procedure with anastomosis of thepulmonary venous confluence to the left atriumat the time of complete correction. Successfulone-stage correction has been previously re-ported5 78 and the postoperative course in ourpatient was relatively uncomplicated. If thepatient is unsuitable for complete correction,but requires palliative surgery to increase pul-monary blood flow, correction of the ano-malous pulmonary venous return should beperformed at the same time because of the riskof postoperative pulmonary oedema.'

Tetralogy of Fallot is rarely associated withanomalous pulmonary venous connection. Thediagnosis is rarely suspected clinically becausethe reduction of pulmonary blood flow domi-nates the clinical presentation. The diagnosismay be made by cross sectional echocardio-graphy, but angiography should be consideredif normal pulmonary venous drainage cannotclearly be shown by non-invasive techniques.Complete correction with anastomosis of thepulmonary venous confluence to the left atriumis best performed within the first year of life ifpulmonary venous connection is totallyanomalous, particularly if there is any evidenceof pulmonary venous obstruction. Correctionof tetralogy of Fallot without re-routing ofanomalously draining veins can be performedwithout serious long term sequelae if only oneor two lobar vessels are affected.

We thank Dr J Somerville, National Heart Hospital, London,and Professor G Falkowski, Bakulev Institute, Moscow, forsupplying details of patients under their care. We also thank DrS E Trotter, National Heart Hospital and Dr S Yen Ho,National Heart and Lung Institute for examining the necropsyspecimens.

1 Muster AJ, Paul MH, Nikaidoh H. Tetralogy of Fallotassociated with total anomalous pulmonary venous drain-age. Chest 1973;64:323-6.

2 Gerlis IM, Fiddler GI, Pearse RG. Total anomalous pul-monary venous drainage associated with tetralogy ofFallot: report of a case. Pediatr Cardiol 1983;4:297-300.

3 Bonvicini M, Picchio FM, Baccarani G, Rapezzi C, MagnaniB. Tetralogy of Fallot associated with total anomalouspulmonary venous drainage. Case report. G Ital Cardiol1980;10:1538-45.

4 Gutierrez J, Perez de Leon J, de Marco E, et al. Tetralogy ofFallot associated with total anomalous pulmonary venousdrainage. Pediatr Cardiol 1983;4:293-6.

5 Miyamoto K, Kawashima Y, Mori T, et al. Pentalogy ofFallot associated with total anomolous pulmonary venousdrainage. Nippon Kyobu Geka Gakkai Zasshi 1979;27:1190-5.

6 Khandeparkar JMS, Balkrishnan KR, Tendolkar AG,Parulkar GB. Pentalogy of Fallot with total anomalouspulmonary venous drainage. J Postgrad Med 1987;33:45-7.

7 Bove EL, Byrum CJ, Thomas FD, et al. The influence ofpulmonary insufficiency on ventricular function followingrepair of tetralogy of Fallot. J Thorac Cardiovasc Surg1983;85:691-6.

8 Kobayashi H, Nakamura T, Sagara T, et al. Successfulrepair of tetralogy of Fallot associated with totalanomalous pulmonary venous drainage. Kyobu Geka1978;31:935-7.

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