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Clinical profile and natural history of pulmonary atresia and ventricular septal defect
Clinical Profile and Natural History of Pulmonary Atresia and Ventricular Septal Defect ROBERT H. FELDT, M.D. Section of Pediatric Cardiology Mayo Clinic, Rochester, Minnesota
PUI-KAN LIAO, M.D. Department of Pediatrics Children's Hospital University of Medicine and Dentistry of New ]ersey, Newark, New ]ersey
FRANCISCO J. PUGA, M.D. Section of Thoracic and Cardiovascular Surgery Mayo Clinic and the Mayo Graduate School of Medicine, Rochester, Minnesota
The incidence of pulmonary atresia and ventricular septal defect is difficult to determine historically. In the past the anomaly has been variously categorized as tetralogy of Fallot with pulmonary atresia, pseudotruncus, or Type IV truncus arteriosus. The best estimates of its relative frequency are from 2.53.4% of all congenital cardiac malformations.1
CLINICAL MANIFESTATIONS The clinical presentation of patients with pulmonary atresia and ventricular septal defect (PA-VSD) depends primarily on the nature and extent of the pulmonary blood flow. Patients with reduced flow resemble those with tetralogy of Fallot demonstrating cyanosis and decreased exercise tolerance. 2,3 Severe life-threatening hypoxia may occur Address correspondenceto Robert H. Feldt,M.D., Sectionof Pediatric Cardiology,Mayo Clinic, Rochester, MN 55905.
in young infants with PA-VSD, especially when the entire pulmonary flow is reduced and supplied only from a closing ductus arteriosus. 2"4Other patients with excessive pulmonary blood flow through a large patent ductus arteriosus and/or collateral arteries may have signs of congestive heart failure and minimal cyanosis.4-6 The nature of the pulmonary blood supply in many of these patients is quite complex and each patient often has a unique pulmonary circulation based on the number, size, and patency of collaterals; the presence and size of the pulmonary artery confluence; and the nature of the connections between the collaterals and the true arterial tree. 7Castaneda and coworkers have classified the anatomy of PA-VSD into four subtypes (see their article in this issue). ,Paroxysmal attacks of dyspnea and squatting occur in some patients with PA-VSD. 3 Hemoptysis from rupture of extensive systemic-to-pulmonary Prog PediatrCardiol1992:1(1):18-22 Copyright 9 1992 by AndoverMedicalPublishers, Inc.
Clinical Profile and Natural History of PA-VSD
artery collaterals into the bronchial tree is a rare but potentially lethal complication in adolescents and young adultsd .9 Important or recurrent infections were more commonly found in a series of patients with PA-VSD than in children with minor cardiac lesions. Immunodeficiency (as measured by low T cell count and low levels of complement and immunoglobulin) was implicated as a possible cause. ~~ On physical examination the most common findings are cyanosis and a continuous murmur, best heard over the upper chest in the presence of a patent ductus arteriosus. The continuous murmur may be diffusely audible over the entire chest, anteriorly and p~steriorly, in the presence of major aortopulmonary collateral arteries. The location and quality of the continuous murmur does not accurately distinguish between a patent ductus and aortic collaterals as the source of the pulmonary flow. In some severely cyanotic patients no murmur is heard, suggesting markedly diminished collateral or ductal blood flow to the pulmonary arteries. The second sound of aortic valve dosure is always single and often accentuated. An early systolic aortic ejection click may be heard. A right ventricular lift, a prominent A wave of the jugular venous pulse, and wide pulse pressure may be found. 2"3"12An early diastolic murmur of aortic regurgitation may develop as a result of dilated aortic annulus or damage from bacterial endocarditis. 13 PA-VSD is occasionally associated with anomalies of the face, palate, and ear, variously described as the velo-cardio-facial syndrome or conotruncal facial syndrome. 1~ PA-VSD should be considered in the differential diagnosis of any cyanotic infant who has a continuous murmur, an atypically localized systolic murmur, or no murmur. Other cardiac anomalies to consider are truncus arteriosus with pulmonary stenosis, severe tetralogy of Fallot with major aortopulmonary collateral arteries, or pulmonary atresia with more complex ventricular morphology such as double-inlet ventricle, double-outlet ventricle, or discordant atrioventricular connection. ~5
Chest Roentgenogram A chest film often shows a coeur en sabot configuration with a concave pulmonary artery segment, as seen in patients with tetralogy of Fallot. All abnormal pattern of hilar vascular markings often represents collateral arteries. The pulmonary vas-
19
cularity is decreased or increased, depending on the volume of pulmonary blood flow. The heart size is usually normal or slightly enlarged, most often with a right ventricular configuration. The aorta is large, and a right-sided aortic arch is present in 3050% of patients. 2'3.15-18
Electrocardiogram The electrocardiogram usually shows right axis deviation, right atrial enlargement, and right ventricular hypertrophy.3 Rarely, biventricular or left ventricular hypertrophy may be present when puImonary blood flow is increased. Echocardiographic Features The intracardiac abnormalities in PA-VSD consist of a large perimembranous ventricular septal defect, the overriding of the aorta, and a blindending, hypoplastic right ventricular infundibulure. These components are easily demonstrated by cross-sectional echocardiography.19The central pulmonary arteries (intrapericardial left and right pulmonary arteries and their confluence) and the aortopulmonary collateral arteries are sometimes difficult to image. When present, the right pulmonary artery is almost always obvious on echocardiographic imaging from the suprasternal approach .20 Large collateral arteries from the upper descending aorta passing to the right hilum are sometimes mistaken for the right pulmonary artery. In the absence of a pulmonary artery confluence, care must be taken to distinguish between these large collateral arteries and the unbranched portion of the right pulmonary artery. Tracing the origin of the collateral arteries to the upper descending aorta and to the base of the brachiocephalic artery of the subclavian artery is a helpful guide to differentiation. The aortic arch and ductal patency can be assessed easily by cross-sectional and Doppler echocardiography in infants and young children. 21Unfortunately, these techniques have not been uniformly helpful in the definitive delineation of the number and course of the aortopulmonary collateral arteries and their anastomoses with hilar pulmonary arteries. Pulmonary Ventilation and Perfusion Studies Because of the complexity of the pulmonary blood supply in PA-VSD, it is not surprising to find asymmetry of pulmonary perfusion and an imbalance of
20
Progress in Pediatric Cardiology
ventilation and perfusion on pulmonary scintigraphy. 22'z3Potential perioperative problems often can be averted by ventilation-perfusion lung scans, especially in those patients with severe arborization abnormalities of the pulmonary vasculature.
Natural History The survival of patients with PA-VSD is largely dependent on the adequacy of pulmonary blood supply. The ductus arteriosus is a precarious route of blood supply, and without prostaglandin treatment the prognosis of ductus-dependent patients is p o o r - death during infancy can be expected in the majority. 2.4.24-26On the other hand, major aortopulmonaD, collateral arteries are relatively more stable and reliable sources of pulmonary blood supply, and prolonged survival to adult life has been documented in some patients. 2"4'27-3~ Patients with well-developed collateral pulmonary circulation often survive the first few years of life but have deterioration in later childhood. 2'3 This deterioration results from the high frequency (40-50%) of progressive stenosis along the course of the major collateral arteries, demonstrated angiographically and histologically. 7.17.z5,31-33Increasing cyanosis and exercise intolerance often results either from a failure of the collateral arteries (especially in areas of stenosis) to increase in size in proportion to the growth of the child or from a failure of the intrapulmonary arteries to grow normally. In some peripheral arteries thrombus formation may occur or progressive obstructive pulmonary vascular disease may develop. In Abbott's series of patients the mean age of survival was five years. 34 Other causes of death have included bronchopneumonia, pulmonary infarction, hemoptysis, bacterial endocarditis, and brain abscess. 3 Alteration of Clinical Profile by a Staged Operative Approach Patients who present with PA-VSD with marked hypoplasia of the pulmonary arteries may now benefit from a staged operative approach, leading eventually to complete hemodynamic repair. To assess the impact of this approach, the authors studied a group of consecutively evaluated patients who were managed by one surgical service at the Mayo Clinic and whose deformities were amenable to at least one staged operative approach (unpublished observations). These patients have been followed prospectively to determine the impact of staging
TABLE1. PA-VSD with Hypoplastic Pulmonary Arteries* Complete repair RV outflow reconstruction (cardiopulmonary bypass) RV conduit (closed technique) Left unifocalization Right unifocalization Aortopulmonary shunt Other Total
35 27 26 28 24 12 12 164
"Total number of operations in study group patients. operations on the clinical status and to estimate the percentage of patients who will eventually be eligible for complete repair. The group of 74 patients (40 males and 34 females) were seen for possible surgical treatment at ages ranging from 3 months to 35 years. The average age was 7.5 years, and nine patients were younger than 2 years. The original clinical presentation in all patients was a heart murmur and cyanosis. Of the 74 patients, 29 (39 %) presented with signs and symptoms in the first week after birth; 54 (73%) were symptomatic by 3 months of age. Congestive heart failure was relatively uncommon, present only in five patients, and the signs of congestive heart failure persisted to the time of operation in only one patient. Polycythemia was common; 25 patients (34%) presented with hemoglobin levels greater than 18 g/dL and an additional 22 patients (30 %) had levels of 16-18 g/dL. Physical growth failure was also common, with initial height and weight measurements below the fifth percentile for age and gender in 27 patients (36%). An additional 32 patients (43 %) had height and weight levels between the 5th and 25th percentiles. A total of 164 operations were performed in these 74 patients (Table 1). Thirty-five patients (47%) had complete hemodynamic repair. A variety of operations were performed, including staging procedures, shunt creations, and other procedures (ligation of large systemic collaterals, reoperations for shunt occlusion, and reconstructions of previously placed right ventricular conduits). Of the 35 patients who had complete repair, 29 (83 %) suvived. Twenty-three (79 %) of those who survived had excellent clinical results (the average
Clinical Profile and Natural History of PA-VSD
length of follow-up was 3V2 years). These patients had a dramatic improvement in exercise tolerance and complete relief of cyanosis. Three (10%) of those who survived had poor results based primarily on persistent right ventricular hypertension and failure. Three patients (10%) died in the postoperative follow-up p e r i o d - one from pulmonary hemorrhage, one from an acute arrhythmia, and one from chronic right ventricular failure. Of the 39 patients who underwent only staging procedures, 12 await complete repair; 11 of these have had effective palliation from staging operations, as defined b y improvements in exercise tolerance and b y significant reductions in the levels of polycythen~ia. Seventeen patients who underwent staging procedures were not candidates for complete repair, but twelve had effective clinical palliation. Postoperativ e clinical improvement was seen even in patients with severe arborization abnormalities, peripheral pulmonary artery stenoses in significant areas of the lung, pulmonary hypertension in significant portions of the lung, and persistent hypoplasia of major segments of the vascular tree. During the study period, 10 (26 %) of the 39 patients died, either at the time of a staging operation or during the subsequent follow-up period. The 12 patients for whom eventual complete repair is planned and the 35 patients who have already had successful repair represent 64% of the original 74 patients who should eventually have complete hemodynamic repair. So far the clinical results in those undergoing complete repair have been good. The majority of patients who had only staged procedures had significant palliative improvements. The overall success of this aggressive plan for treating PA-VSD is sufficiently encouraging to continue this approach to surgical management.
REFERENCES 1. Moller JH: Incidence of cardiac malformations. In Moller JH, Neal WA, (eds), Fetal, neonatal and infan t cardiac disease. Norwalk, CT: Appleton and Lange, 1990, pp 361-369. 2. Miller WW, Nadas AS, Bernhard WF, et al: Congenital pulmonary atresia with ventricular septa defect: Review of the clinical course of fifty patients with assessment of the results of palliative surgery. A m ] Cardiol 1968; 21:673-679. 3. LaFargue RT, Vogel JHK, Pryor R, et at: Pseudotrun-
21
cus arteriosus. A review of 21 cases with observations on oldest reported case. Am ] Cardio11967; 19: 239-246. 4. Somerville J: Management of pulmonary atresia. Br Heart J 1970; 32:641-651. 5. Starke H, Pugh D, Dunn M: Bronchopulmonary arterial communications in pulmonary atresia with ventricular septal defect. A m ] Cardio11969; 24:570574. 6. Liao P: Tetralogy of Fallot with pulmonary valve atresia. A clinical angiographic and pathological correlation (thesis). Rochester, MN: University of Minnesota Graduate School, 1984. 7. Liao P, Edwards WD, Julsrud PR, et al: Pulmonary blood supply in patients with pulmonary atresia and ventricular septal defect. ]ACC 1985; 6:1343-1350. 8. Kaufman SL, Kan JS, Mitchell SE, et al: Embolization of systemic to pulmonary artery collaterals in the management of hemoptysis in pulmonary atresia. A m ] Cardiol 1986; 58:1130-1132. 9. Haroutunian L, Neill CA: Pulmonary complications of congenital heart disease. Am Heart ] 1972; 84: 540-559. 10. Radford DJ, Thong YH: Facial and immunological anomalies associated with tetralogy of Fallot. hztl ] Cardiol 1989; 22:229-236. 11. Burn J: Editorial note: The face and immune system in tetralogy of Fallot. hztl ] Cardiol 1989; 22:237239. 12. Zutter W, Somerville J: Continuous murmur in pulmonary atresia with reference to aortography. Br Heart ] 1971; 33:905-909. 13. Capelli H, Ross D, Somerville J: Aortic regurgitation in tetralogy of Fallot and pulmonary atresia. A m ] Cardiol 1982; 49:1979-1983. 14. Jedele K, Michels V, Puga F, et al: Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia and hypoplastic pulmonary arteries. In press. 15. Anderson RH, Macartney F, Shinebourne EA, et al: Pulmonary atresia with ventricular septal defect. In Anderson RH, et al (eds), Pediatric Cardiology. Edinburgh: Churchill-Livingston 1987, pp 799-827. 16. Campbell M, Gardner F: Radiological features of enlarged bronchial arteries. Br Heart ] 1950; 12:183200. 17. McGoon, DC, Fulton RE, Davis GD, et al: Systemic collateral and pulmonary artery stenosis in patients with congenital pulmonary valve atresia and ventricular septal defect. Circulation 1977; 56:473-479. 18. Davis GD, Fulton RE, Ritter DG, et al: Congenital pulmonary atresia with ventricular septal defect: Angiographic and surgical correlates. Radiology 1978; 128:133-144. 19. Barton JV, Sahn DJ, Attie F, et al: Two-dimensional
22
20.
21.
22.
23.
24.
25.
26.
Progress in Pediatric Cardiology
echocardiographic study of right ventricular outflow and great artery anatomy in pulmonary atresia with ventricular septal defects and in truncus arteriosus. A m Heart ] 1983; 105:281-286. Huhta JC, Piehler JM, Tajik AJ, et ah Two-dimensional echocardiographic detection and measurement of the right pulmonary artery in pulmonary atresia-ventricular septal defect: angiographic and surgical correlation. A m ] Cardiol 1982; 49:12351240. Smallhorn JE Anderson RH, Macartney FJ: Twodimensional echocardiographic assessment of communications between ascending aorta and pulmonary trunk or individual pulmonary arteries. Br Heait ] 1982; 47:563-572. Do@dle SC, Human DG, Mann MD: Pulmonary ventilation and perfusion abnormalities and ventilation perfusion imbalance in children with pulmonary atresia or extreme tetralogy of Fallot. ] Nucl Med 1990; 31:1276-1279. Del Torso S, Kelly MJ, Kalff V, et al: Non-invasive assessment of pulmonary blood supply after staged repair of pulmonary atresia. Br Heart ] 1985; 54:209214. Venables AW: The patterns of pulmonary circulation in pulmonary atresia. Br Heart J 1964; 26:760769. Haworth SG: Collateral arteries in pulmonary atresia with ventricular septal defect: A precarious blood supply. Br Heart J 1980; 44:5-13. Gittenberger-de Groot AC: Persistent ductus arterio-
27.
28.
29.
30.
31.
32.
33.
34.
sus: Most probably a primary congenital malformation. Br Heart 1 1977; 39:610-618. Studsey D, Bowdler JD, Reye RDK: Absent sixth aortic arch: A form of pulmonary atresia. Br Heart 1 1968; 30:258-264. Campbell M, Deuchar DC: Continuous murmur in cyanotic congenital heart disease. Br Heart 1 1961; 23:173-193. Macartney F, Deverall P, Scott D: Hemodynamic characteristics of systemic arterial blood supply to the lungs. Br Heart ] 1973; 35:28-37. Agarwala B, Agarwala R, Cuthes F, et ah Pulmonary atresia with ventricular septal defect in three relatively asymptomatic children. Ill Med ] 1976; 150: 505-513. Thiene G, Frescura C, Bini RM, et al: Histology of pulmonary arterial supply in pulmonary atresia with ventricular septal defect. Circulation 1979; 60:10661074. Haworth SG, Macartney FJ: Growth and development of pulmonary circulation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. Br Heart 1 1980; 44:1424. Rabinovitch M, Herrera-DeLeon V, Castaneda AR, et al: Growth and development of the pulmonary vascular bed in patients with tetralogy of Fallot with or without pulmonary atresia. Circulation 1981; 64: 1234-1249. Abbott M: Atlas of congenital heart disease. New York: American Heart Association, Inc, 1936, p 60.
PUI-KAN LIAO, M.D. Department of Pediatrics Children's Hospital University of Medicine and Dentistry of New ]ersey, Newark, New ]ersey
FRANCISCO J. PUGA, M.D. Section of Thoracic and Cardiovascular Surgery Mayo Clinic and the Mayo Graduate School of Medicine, Rochester, Minnesota
The incidence of pulmonary atresia and ventricular septal defect is difficult to determine historically. In the past the anomaly has been variously categorized as tetralogy of Fallot with pulmonary atresia, pseudotruncus, or Type IV truncus arteriosus. The best estimates of its relative frequency are from 2.53.4% of all congenital cardiac malformations.1
CLINICAL MANIFESTATIONS The clinical presentation of patients with pulmonary atresia and ventricular septal defect (PA-VSD) depends primarily on the nature and extent of the pulmonary blood flow. Patients with reduced flow resemble those with tetralogy of Fallot demonstrating cyanosis and decreased exercise tolerance. 2,3 Severe life-threatening hypoxia may occur Address correspondenceto Robert H. Feldt,M.D., Sectionof Pediatric Cardiology,Mayo Clinic, Rochester, MN 55905.
in young infants with PA-VSD, especially when the entire pulmonary flow is reduced and supplied only from a closing ductus arteriosus. 2"4Other patients with excessive pulmonary blood flow through a large patent ductus arteriosus and/or collateral arteries may have signs of congestive heart failure and minimal cyanosis.4-6 The nature of the pulmonary blood supply in many of these patients is quite complex and each patient often has a unique pulmonary circulation based on the number, size, and patency of collaterals; the presence and size of the pulmonary artery confluence; and the nature of the connections between the collaterals and the true arterial tree. 7Castaneda and coworkers have classified the anatomy of PA-VSD into four subtypes (see their article in this issue). ,Paroxysmal attacks of dyspnea and squatting occur in some patients with PA-VSD. 3 Hemoptysis from rupture of extensive systemic-to-pulmonary Prog PediatrCardiol1992:1(1):18-22 Copyright 9 1992 by AndoverMedicalPublishers, Inc.
Clinical Profile and Natural History of PA-VSD
artery collaterals into the bronchial tree is a rare but potentially lethal complication in adolescents and young adultsd .9 Important or recurrent infections were more commonly found in a series of patients with PA-VSD than in children with minor cardiac lesions. Immunodeficiency (as measured by low T cell count and low levels of complement and immunoglobulin) was implicated as a possible cause. ~~ On physical examination the most common findings are cyanosis and a continuous murmur, best heard over the upper chest in the presence of a patent ductus arteriosus. The continuous murmur may be diffusely audible over the entire chest, anteriorly and p~steriorly, in the presence of major aortopulmonary collateral arteries. The location and quality of the continuous murmur does not accurately distinguish between a patent ductus and aortic collaterals as the source of the pulmonary flow. In some severely cyanotic patients no murmur is heard, suggesting markedly diminished collateral or ductal blood flow to the pulmonary arteries. The second sound of aortic valve dosure is always single and often accentuated. An early systolic aortic ejection click may be heard. A right ventricular lift, a prominent A wave of the jugular venous pulse, and wide pulse pressure may be found. 2"3"12An early diastolic murmur of aortic regurgitation may develop as a result of dilated aortic annulus or damage from bacterial endocarditis. 13 PA-VSD is occasionally associated with anomalies of the face, palate, and ear, variously described as the velo-cardio-facial syndrome or conotruncal facial syndrome. 1~ PA-VSD should be considered in the differential diagnosis of any cyanotic infant who has a continuous murmur, an atypically localized systolic murmur, or no murmur. Other cardiac anomalies to consider are truncus arteriosus with pulmonary stenosis, severe tetralogy of Fallot with major aortopulmonary collateral arteries, or pulmonary atresia with more complex ventricular morphology such as double-inlet ventricle, double-outlet ventricle, or discordant atrioventricular connection. ~5
Chest Roentgenogram A chest film often shows a coeur en sabot configuration with a concave pulmonary artery segment, as seen in patients with tetralogy of Fallot. All abnormal pattern of hilar vascular markings often represents collateral arteries. The pulmonary vas-
19
cularity is decreased or increased, depending on the volume of pulmonary blood flow. The heart size is usually normal or slightly enlarged, most often with a right ventricular configuration. The aorta is large, and a right-sided aortic arch is present in 3050% of patients. 2'3.15-18
Electrocardiogram The electrocardiogram usually shows right axis deviation, right atrial enlargement, and right ventricular hypertrophy.3 Rarely, biventricular or left ventricular hypertrophy may be present when puImonary blood flow is increased. Echocardiographic Features The intracardiac abnormalities in PA-VSD consist of a large perimembranous ventricular septal defect, the overriding of the aorta, and a blindending, hypoplastic right ventricular infundibulure. These components are easily demonstrated by cross-sectional echocardiography.19The central pulmonary arteries (intrapericardial left and right pulmonary arteries and their confluence) and the aortopulmonary collateral arteries are sometimes difficult to image. When present, the right pulmonary artery is almost always obvious on echocardiographic imaging from the suprasternal approach .20 Large collateral arteries from the upper descending aorta passing to the right hilum are sometimes mistaken for the right pulmonary artery. In the absence of a pulmonary artery confluence, care must be taken to distinguish between these large collateral arteries and the unbranched portion of the right pulmonary artery. Tracing the origin of the collateral arteries to the upper descending aorta and to the base of the brachiocephalic artery of the subclavian artery is a helpful guide to differentiation. The aortic arch and ductal patency can be assessed easily by cross-sectional and Doppler echocardiography in infants and young children. 21Unfortunately, these techniques have not been uniformly helpful in the definitive delineation of the number and course of the aortopulmonary collateral arteries and their anastomoses with hilar pulmonary arteries. Pulmonary Ventilation and Perfusion Studies Because of the complexity of the pulmonary blood supply in PA-VSD, it is not surprising to find asymmetry of pulmonary perfusion and an imbalance of
20
Progress in Pediatric Cardiology
ventilation and perfusion on pulmonary scintigraphy. 22'z3Potential perioperative problems often can be averted by ventilation-perfusion lung scans, especially in those patients with severe arborization abnormalities of the pulmonary vasculature.
Natural History The survival of patients with PA-VSD is largely dependent on the adequacy of pulmonary blood supply. The ductus arteriosus is a precarious route of blood supply, and without prostaglandin treatment the prognosis of ductus-dependent patients is p o o r - death during infancy can be expected in the majority. 2.4.24-26On the other hand, major aortopulmonaD, collateral arteries are relatively more stable and reliable sources of pulmonary blood supply, and prolonged survival to adult life has been documented in some patients. 2"4'27-3~ Patients with well-developed collateral pulmonary circulation often survive the first few years of life but have deterioration in later childhood. 2'3 This deterioration results from the high frequency (40-50%) of progressive stenosis along the course of the major collateral arteries, demonstrated angiographically and histologically. 7.17.z5,31-33Increasing cyanosis and exercise intolerance often results either from a failure of the collateral arteries (especially in areas of stenosis) to increase in size in proportion to the growth of the child or from a failure of the intrapulmonary arteries to grow normally. In some peripheral arteries thrombus formation may occur or progressive obstructive pulmonary vascular disease may develop. In Abbott's series of patients the mean age of survival was five years. 34 Other causes of death have included bronchopneumonia, pulmonary infarction, hemoptysis, bacterial endocarditis, and brain abscess. 3 Alteration of Clinical Profile by a Staged Operative Approach Patients who present with PA-VSD with marked hypoplasia of the pulmonary arteries may now benefit from a staged operative approach, leading eventually to complete hemodynamic repair. To assess the impact of this approach, the authors studied a group of consecutively evaluated patients who were managed by one surgical service at the Mayo Clinic and whose deformities were amenable to at least one staged operative approach (unpublished observations). These patients have been followed prospectively to determine the impact of staging
TABLE1. PA-VSD with Hypoplastic Pulmonary Arteries* Complete repair RV outflow reconstruction (cardiopulmonary bypass) RV conduit (closed technique) Left unifocalization Right unifocalization Aortopulmonary shunt Other Total
35 27 26 28 24 12 12 164
"Total number of operations in study group patients. operations on the clinical status and to estimate the percentage of patients who will eventually be eligible for complete repair. The group of 74 patients (40 males and 34 females) were seen for possible surgical treatment at ages ranging from 3 months to 35 years. The average age was 7.5 years, and nine patients were younger than 2 years. The original clinical presentation in all patients was a heart murmur and cyanosis. Of the 74 patients, 29 (39 %) presented with signs and symptoms in the first week after birth; 54 (73%) were symptomatic by 3 months of age. Congestive heart failure was relatively uncommon, present only in five patients, and the signs of congestive heart failure persisted to the time of operation in only one patient. Polycythemia was common; 25 patients (34%) presented with hemoglobin levels greater than 18 g/dL and an additional 22 patients (30 %) had levels of 16-18 g/dL. Physical growth failure was also common, with initial height and weight measurements below the fifth percentile for age and gender in 27 patients (36%). An additional 32 patients (43 %) had height and weight levels between the 5th and 25th percentiles. A total of 164 operations were performed in these 74 patients (Table 1). Thirty-five patients (47%) had complete hemodynamic repair. A variety of operations were performed, including staging procedures, shunt creations, and other procedures (ligation of large systemic collaterals, reoperations for shunt occlusion, and reconstructions of previously placed right ventricular conduits). Of the 35 patients who had complete repair, 29 (83 %) suvived. Twenty-three (79 %) of those who survived had excellent clinical results (the average
Clinical Profile and Natural History of PA-VSD
length of follow-up was 3V2 years). These patients had a dramatic improvement in exercise tolerance and complete relief of cyanosis. Three (10%) of those who survived had poor results based primarily on persistent right ventricular hypertension and failure. Three patients (10%) died in the postoperative follow-up p e r i o d - one from pulmonary hemorrhage, one from an acute arrhythmia, and one from chronic right ventricular failure. Of the 39 patients who underwent only staging procedures, 12 await complete repair; 11 of these have had effective palliation from staging operations, as defined b y improvements in exercise tolerance and b y significant reductions in the levels of polycythen~ia. Seventeen patients who underwent staging procedures were not candidates for complete repair, but twelve had effective clinical palliation. Postoperativ e clinical improvement was seen even in patients with severe arborization abnormalities, peripheral pulmonary artery stenoses in significant areas of the lung, pulmonary hypertension in significant portions of the lung, and persistent hypoplasia of major segments of the vascular tree. During the study period, 10 (26 %) of the 39 patients died, either at the time of a staging operation or during the subsequent follow-up period. The 12 patients for whom eventual complete repair is planned and the 35 patients who have already had successful repair represent 64% of the original 74 patients who should eventually have complete hemodynamic repair. So far the clinical results in those undergoing complete repair have been good. The majority of patients who had only staged procedures had significant palliative improvements. The overall success of this aggressive plan for treating PA-VSD is sufficiently encouraging to continue this approach to surgical management.
REFERENCES 1. Moller JH: Incidence of cardiac malformations. In Moller JH, Neal WA, (eds), Fetal, neonatal and infan t cardiac disease. Norwalk, CT: Appleton and Lange, 1990, pp 361-369. 2. Miller WW, Nadas AS, Bernhard WF, et al: Congenital pulmonary atresia with ventricular septa defect: Review of the clinical course of fifty patients with assessment of the results of palliative surgery. A m ] Cardiol 1968; 21:673-679. 3. LaFargue RT, Vogel JHK, Pryor R, et at: Pseudotrun-
21
cus arteriosus. A review of 21 cases with observations on oldest reported case. Am ] Cardio11967; 19: 239-246. 4. Somerville J: Management of pulmonary atresia. Br Heart J 1970; 32:641-651. 5. Starke H, Pugh D, Dunn M: Bronchopulmonary arterial communications in pulmonary atresia with ventricular septal defect. A m ] Cardio11969; 24:570574. 6. Liao P: Tetralogy of Fallot with pulmonary valve atresia. A clinical angiographic and pathological correlation (thesis). Rochester, MN: University of Minnesota Graduate School, 1984. 7. Liao P, Edwards WD, Julsrud PR, et al: Pulmonary blood supply in patients with pulmonary atresia and ventricular septal defect. ]ACC 1985; 6:1343-1350. 8. Kaufman SL, Kan JS, Mitchell SE, et al: Embolization of systemic to pulmonary artery collaterals in the management of hemoptysis in pulmonary atresia. A m ] Cardiol 1986; 58:1130-1132. 9. Haroutunian L, Neill CA: Pulmonary complications of congenital heart disease. Am Heart ] 1972; 84: 540-559. 10. Radford DJ, Thong YH: Facial and immunological anomalies associated with tetralogy of Fallot. hztl ] Cardiol 1989; 22:229-236. 11. Burn J: Editorial note: The face and immune system in tetralogy of Fallot. hztl ] Cardiol 1989; 22:237239. 12. Zutter W, Somerville J: Continuous murmur in pulmonary atresia with reference to aortography. Br Heart ] 1971; 33:905-909. 13. Capelli H, Ross D, Somerville J: Aortic regurgitation in tetralogy of Fallot and pulmonary atresia. A m ] Cardiol 1982; 49:1979-1983. 14. Jedele K, Michels V, Puga F, et al: Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia and hypoplastic pulmonary arteries. In press. 15. Anderson RH, Macartney F, Shinebourne EA, et al: Pulmonary atresia with ventricular septal defect. In Anderson RH, et al (eds), Pediatric Cardiology. Edinburgh: Churchill-Livingston 1987, pp 799-827. 16. Campbell M, Gardner F: Radiological features of enlarged bronchial arteries. Br Heart ] 1950; 12:183200. 17. McGoon, DC, Fulton RE, Davis GD, et al: Systemic collateral and pulmonary artery stenosis in patients with congenital pulmonary valve atresia and ventricular septal defect. Circulation 1977; 56:473-479. 18. Davis GD, Fulton RE, Ritter DG, et al: Congenital pulmonary atresia with ventricular septal defect: Angiographic and surgical correlates. Radiology 1978; 128:133-144. 19. Barton JV, Sahn DJ, Attie F, et al: Two-dimensional
22
20.
21.
22.
23.
24.
25.
26.
Progress in Pediatric Cardiology
echocardiographic study of right ventricular outflow and great artery anatomy in pulmonary atresia with ventricular septal defects and in truncus arteriosus. A m Heart ] 1983; 105:281-286. Huhta JC, Piehler JM, Tajik AJ, et ah Two-dimensional echocardiographic detection and measurement of the right pulmonary artery in pulmonary atresia-ventricular septal defect: angiographic and surgical correlation. A m ] Cardiol 1982; 49:12351240. Smallhorn JE Anderson RH, Macartney FJ: Twodimensional echocardiographic assessment of communications between ascending aorta and pulmonary trunk or individual pulmonary arteries. Br Heait ] 1982; 47:563-572. Do@dle SC, Human DG, Mann MD: Pulmonary ventilation and perfusion abnormalities and ventilation perfusion imbalance in children with pulmonary atresia or extreme tetralogy of Fallot. ] Nucl Med 1990; 31:1276-1279. Del Torso S, Kelly MJ, Kalff V, et al: Non-invasive assessment of pulmonary blood supply after staged repair of pulmonary atresia. Br Heart ] 1985; 54:209214. Venables AW: The patterns of pulmonary circulation in pulmonary atresia. Br Heart J 1964; 26:760769. Haworth SG: Collateral arteries in pulmonary atresia with ventricular septal defect: A precarious blood supply. Br Heart J 1980; 44:5-13. Gittenberger-de Groot AC: Persistent ductus arterio-
27.
28.
29.
30.
31.
32.
33.
34.
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