J. Paediafr. Child Health (1992) 28, 192-1 95
Stenosis of pulmonary veins in Down syndrome A. D. STEWART,' A. L. CALDER,1,2J. M. NEUTZE,' A. H. JAMES4 and P. W. T. BRANDT3
'
Deparfments of Cardiology, ,Pathology and 3Radio/ogy, Green Lane Hospital and Department of4Paediatrics, National Women's Hospital, Auckland, New Zealand
Abstract Two patients with Down syndrome, intracardiac communications and elevated pulmonary arteriolar resistance presented early in life. Both patients had significant stenosis of pulmonary veins. The progressive nature of the stenosis is illustrated in one patient. Pulmonary venous stenosis in Down syndrome has been recorded only twice before in the literature, and may play a part in the early onset of pulmonary vascular occlusive disease in some patients. Key words:
Down syndrome; pulmonary vein stenosis
Congenital stenosis of individual pulmonary veins, whether bilateral or unilateral, is uncommon and often occurs in association with other intracardiac anomalies. In Down syndrome, cardiac anomalies are often accompanied by elevated pulmonary arteriolar resistance and in this situation the possibility of associated pulmonary venous stenosis might be overlooked. Two children with Down syndrome and pulmonary vein stenosis are described.
CASE REPORTS Case 1 A male infant with trisomy 21 weighing 2.16 kg was born at 34 weeks gestation. He suffered repeated respiratory infections and grew poorly. At 9 months of age he had a modest systolic murmur with a loud single second heart sound, but no heart failure. Chest X-ray showed normal heart size with a prominent main pulmonary artery and a persistent hazy reticular pattern, particularly on the right side. An electrocardiogram showed evidence of right ventricular hypertrophy, with a frontal plane axis of $90" and persistently upright T waves in lead V1. A two-dimensional echocardiogram showed a secundum atrial septal defect. Right and left upper lobe veins looked dilated but a Doppler assessment was not available. Cardiac catheterization showed markedly elevated pulmonary resistance (Table 1). Tight stenoses were shown at the confluence of the right upper and right middle pulmonary veins and at the junction with the left atrium (Table 1; Fig. la). Lesser gradients were recorded on the left side but the left upper pulmonary vein appeared widely patent (Fig. 1b). Balloon dilatation angioplasty of the terminal right pulmonary vein was
Correspondence: Dr A. L. Calder, Cardiology Department Green Lane Hospital, Auckland 3. New Zealand. A. D. Stewart FRACP. MRCP. Paediatrician. Gtsborne Hospital. A. L. Calder, FRCP(C). Paediatric Cardiologist. J. M. Neutze, FRACP. MD, Head, Cardiology Department. A. G. James, FRACP. Paediatrician. P. W. T. Brandt. FRACB. FRCR, Cardiac Radiologist Accepted for publication 5 July 1991
attempted but the balloon catheter could not be advanced over the wire into the right upper pulmonary vein. Surgical treatment was not thought practical and the baby died in hospital with an overwhelming chest infection at 14 months of age. Post-mortem examination showed a dilated and hypertrophied right heart with a secundum atrial septal defect. Pulmonary veins from the right upper and middle lobes joined together to form one vein which entered the left atrium. The vein was thickened and firm over a considerable distance and the internal diameter was occluded (Fig. 2). The left upper and lower veins joined to form a short channel before entry into the left atrium. Wall thicknesses were again prominent, the most severe narrowing being at the upper pulmonary vein near its junction with the lower vein. The histology of sections of the lungs showed medial hypertrophy of the small and large pulmonary arteries, with extension of muscle peripherally to arteries at the alveolar wall level. No significant difference was noted between the two lungs.
Case 2
A female infant with trisomy 21 weighing 1.5 kg was born at 33 weeks gestation. A large perimembranous ventricular septal defect was diagnosed by two-dimensional echocardiography on the first day of life. A moderate systolic murmur was first documented on day 9 and digoxin and diuretics were given for heart failure from day 17. From that time she developed an unexplained requirement for oxygen (Fio, 0.25, Po2 7.0 kPa, PCO, 6.2 kPa). By 7 weeks of age the murmur was trivial and the second heart sound was loud and single. Serial chest X-rays during the first month of life demonstrated cardiomegaly and pulmonary plethora. These signs gradually resolved, but there was a progressive increase in pulmonary interstitial markings. The electrocardiogram showed evidence of right ventricular hypertrophy with a frontal plane axis of 100" and persistent elevation of T waves in lead VI. On repeat echocardiography at 10 weeks of age, right and left upper and left lower pulmonary veins appeared dilated and Doppler interrogation demonstrated high velocity turbulent flow on entry to the left atrium. Colour mode was not available.
+
Stenosis of pulmonary veins in Down syndrome
193
Fig. 2 Photomicrographsof the right pulmonary vein of Case 1 at 14 months of age. (a) Narrowing of the lumen of the right pulmonary vein near left atrium is produced by medial hypertrophy (M) and fibrous intimal thickening (I). (iel) = Internal elastic lamina. (b) Section taken more proximally, at the junction with right upper pulmonary vein, the lumen is occluded by fibromuscular thickening with loss of normal wall structure. The media, intima and iel cannot be identified.
Fig. 1 Frames from cineangiogram in right anterior oblique projection in Case 1 at age 9 months. (a) Following an injection through a number 5 French catheter, in the right upper pulmonary vein (RU) stenoses at the entry into the left atrium and at the junction with the right middle pulmonary vein (RM) are seen. (b) Following an injection into the left upper pulmonary vein (LU), no significant narrowing at the entry into the left atrium (LA) is seen; however at post-mortem examination 5 months later the orifice was less than 1.5 mm.
Cardiac catheterization at 10 weeks confirmed the presence of a ventricular septal defect with elevated pulmonary arteriolar resistanceand a small left to right shunt (Table 1).The cineangiocardiographic findings indicated pulmonary venous obstruction of the right upper lobe and of the whole of the left lung (Fig. 3). Surgery was not considered practical and the child died at 5 months of age. A post-mortem examination was not obtained.
Congenital cardiac defects are frequent in children with Down syndrome, the commonest anomalies being ventricular septal defects and atrioventricular canal defects.' - 4 Down syndrome children with intracardiac communications often appear to show greater elevation of pulmonary resistance than patients with similar lesions but without Down ~ y n d r o m e . ~Possible -~ explanations for these observationsinclude nocturnal hypoxaemia secondary to sleep-induced airways Lung hypoplasia with reduced numbers of alveoli per acinus was reported by Cooney and Thurlbeck.12 However Haworth found only a slight reduction in the numbers of alveoli per acinus in 7 of 11 children less than 2 years of age with Down ~yndrome.'~ Histological studies showing earlier developmentof irreversible pulmonary vascular occlusive diseasegor intrinsic differences in pulmonary arterial responses14 in Down syndrome children
A. D. Stewart eta/.
194
Fig. 3 Frames from crneangiocardiogramin Case 2, right anterior oblique projection. (a) Following injection in the main pulmonary artery (MPA) the right lower lobe pulmonary artery (RPA) was disproportionately large with poor flow to the right upper lobe and left lung. (b) The levophase shows rapid flow through the right lower lobe with flow to the leR atrium (LA) only through the right lower pulmonary vein (arrow).No filling of the pulmonary veins was seen on the left side: contrast persisted in the left pulmonary artery (LPA) at the end of the cine run.
Table 1 Data from cardiac catheterization study
Site Right atrium Pulmonary artery RMZW RLZW RUPV LUPV LLPV Left atrium Left ventricle opms PAR1 PAR1 with Isoprenalrne
Case 1 Pressure mmHg KPa
3
0.4
60
8.0
27 7 9 5
10517
3.6 0.9
1.2 0.7 141.9
0, Sat'n
59 62
98 92 93 82 89
10 12.6 7.2
Case 2 Pressure mmHg KPa 4
51 24
3
0.5 6.8 3.2 0.4
88/15
57 67
-
-
2.5
0, SatW
0.3 11.812 1.5 6.2t
97
~
*Oxygen by nasal prongs, +Assumedoxygen consumption Bold pressure numerals = mean pressure, RMZW, RLZW = right mid. right lower zone wedge pressure, RUPV, LUPV. LLPV = right upper, left upper and left lower pulmonary veins, QpIOs = pulmonary to systemic flow ratio, PAR1 = pulmonary arteriolar resistance index (units M2), using equation
IPA - LA) Dressure difference
pulmonary flow index compared with other patients have not been supported by other on Doppler interrogation in the region of entry of pulmonary ~ t u d i e s . ' ~At * ' ~least 90 cases of obstruction of normally conveins to the left atrium provides strong support for obstruction.m nected individual pulmonary veins have been d e s ~ r i b e d ~ ~ ' ~ - ~ This ' pattern was present in our patient who had a Doppler and 55% were associated with congenital cardiac anomalies. study. Narrowing of the insertions of pulmonary veins may be Only two children had Down ~ y n d r o m e ~and . ~ * the association suspected on two-dimensional echocardiographybut resolution may be coincidental. may be inadequate to allow for certain diagnosis on this alone. Pulmonary venous stenosis classically presents with normal Detailed diagnosis requires cardiac catheterization. The difheart size and progressive pulmonary venous congestion with ference between wedged pulmonary arterial pressure and left oedema. Increased reticular markings and relative diminution of atrial pressure may indicate pulmonary venous obstruction. In the size of the affected lung on the chest X-ray suggest Case 2. the pressures accurately indicated obstruction of the pulmonary venous obstruction.20*29 High velocity turbulent flow right upper pulmonary veins (Table 1). When pulmonary venous
Stenosis of pulmonary veins in Down syndrome
obstruction becomes severe and forward flow minimal, as in the left lung in Case 2, meaningful wedged pulmonary arterial pressures may be difficult or impossible to 0btain.2~Direct cannulation of the pulmonary veins, as in Case 1, is clearly more satisfactory although the difference in pressure between pulmonary vein and left atrium may be exaggerated by the presence of the catheter in the narrowed vessel. Further information is provided by cineangiocardiography after injection in the pulModerate obstrucmonary artery or pulmonary veins22*24.29*31 tions may be demonstrated after an injection in the pulmonary artery, as with the right upper lobe in Case 2, although opacification is always poor. Where the obstruction is severe, as with the left lung in Case 2, pulmonary veins may not be seen at all. The persistence of contrast in the pulmonary artery and failure to opacity the pulmonary vein allows a confident diagnosis of pulmonary venous obstruction but does not demonstrate the anatomy. Diagnosis of pulmonary venous obstruction is important because of the poor prognosis21-22-26although repair using living autologous atrial tissue has shown p r ~ m i s e . ~Case ’ 1 illustrates progression of pulmonary venous obstruction with time. Although balloon dilatation was attempted, this was done without conviction a n d proved technically impossible. The massive thickening of fibrous tissue in the wall of the pulmonary veins clearly indicates that this would have been a futile procedure. Progression of pulmonary venous stenosis was likely in Case 2 and has been reported in earlier Poor results with surgical treatment may be related in part to this progression. Although repair has sometimes been successful initially, restenosis of the pulmonary veins is common, often within 1-5 month^.^^-^^ Histological findings at post-mortem have shown intimal h y p e r p l a ~ i a ~a n~d- ~ acellular ~ fibrous thickening at the area of the surgical repair.26 Clinical and radiological findings may provide clues to the diagnosis of pulmonary venous stenosis and careful study with two-dimensional echocardiography and Doppler interrogation should detect most cases. Detailed display of the anomalies requires cardiac catheterization. It seems likely, however, that few will be suitable for treatment with balloon angioplasty or surgery.
REFERENCES Liu M. C.. Corlett K. A study of congenital heart defects in Mongolism. Arch. Dis. Child. 1959; 34: 410-19. Rowe A. D., Uchida 1. A. Cardiac malformation in mongolism: A prospective study of 184 mongoloid children. Am. J. Med. 1961; 31: 726-35. Callum L.. Leibman J. The association of congenital heart disease with Down’s Syndrome. Am. J. Cardiol. 1969; 24: 354-7. Tandon R.. Edwards J. E. Cardiac malformations associated with Down’s Syndrome. Circulation 1973; 6 7 1349-55. Chi T. L.,Krovetz L. J. The pulmonary vascular bed in children with Down’s Syndrome. J. Pediatr. 1975; 86: 533-8. Soudon P., Stijns M., Tremouroux-Wattiez M., Vliers A. Precocity of pulmonary vascular obstruction in Down’s Syndrome. Eur. J. Cardiol. 1975; 214: 473-6. Park S. C., Matthews R. A,, Zuberbuhler J. R.. Rowe R. D., Neches W H.. Lenox C. C. Down Syndrome with congenital heart malformation. Am. J. Dis. Child. 1977; 131: 29-33. Greenwood R. D., Nadas A. S. The clinical course of cardiac disease in Down’s Syndrome. Pediatr. 1976; 58: 893-7.
195
9 Frescura C.. Thiene G., Franceschini E., Talenti E., Mazzuco A. Pulmonary vascular disease in infants with complete atrioventricular septal defect. lnf. J. Cardiol. 1987; 15: 91-100. 10 Loughlin G. M., w n n e J. W., Victorica B. E. Sleep apnoea as a possible cause of pulmonary hypertension in Down Syndrome. J. Pediatr. 1981; 98: 435-7. 11 Levine 0. R.. Simpser M. Alveolar hypoventilationand cor pulmonale associated with chronic airway obstruction in infants with Down’s Syndrome. Clin. Pediatr. 1982; 21: 25-9. 12 Cooney 1. P.. Thurlbeck W. M. Pulmonary hypoplasia in Down’s Syndrome. N. Engl. J. Med. 1982; 307: 1170-3. 13 Haworth S. G. Pulmonary vascular bed in children with complete atrioventricular septal defect. Relation between structural and hemodynamic abnormalities. Am. J. Cardiol. 1986; 57: 833-9. 14 Yamaki S., Horiuchi T., Seikino Y. Quantitative analysis of pulmonary vascular disease in simple cardiac anomalies with the Down Syndrome. Am. J. Cardiol. 1983; 51: 1502-6. 15 Newfeld E. A,, Sher M.. Paul M.H.. Nikaidoh H. Pulmonary vascular disease in complete atrioventricular canal defect. Am. J. Cardiol. 1977; 39: 721-6. 16 Wilson S. K.. Hutchins G. M., Neil1 C. A. Hypertensive pulmonary vascular disease in Down’s Syndrome. J. Pediatr. 1979; 95: 722-6. 17 Shone J. D., Amplatz K.. Anderson R. C., Adams P. Jr, Edwards J. E. Congenital stenosis of individual pulmonary veins. Circulation 1962; 26: 574-81. 18 Nasrallah A. T.. Mullins C. E., Singer D.. Harrison G., McNamara D. G. Unilateral pulmonary vein atresia: Diagnosis and treatment. Am. J. Cardiol. 1975; 36:969-73. 19 Henry M., Hoeffel J. C., Pernot C. Congenitallocalised stenosis of the pulmonary veins. Pediatr. Radiol. 1975; 4: 49-52. 20 Swischuk L. E.. L‘Heureux P. Unilateralpulmonaryvein atresia. Am. J. Radiol. 1980; 135: 667-72. 21 Driscoll D. J., Hesslein P. S.. Mullins C. E. Congenital stenosis of individual pulmonary veins: Clinical spectrum and unsuccessful treatment by transvenous balloon dilatation. Am. J. Cardiol. 1982; 49: 1767-72. 22 Presbitero P., Bull C., Macartney F. J. Stenosis of pulmonary veins with ventricular septal defect. Br. Heart J. 1983; 49: 600-3. 23 Kingston H. M., Patel R. G.. Watson G. H. Unilateral absence or extreme hypoplasia of pulmonary veins. Br. Heart J. 1983 49: 148-53. 24 Beerman L. 8.. Oh K. S., Park S. C. et al. Unilateral pulmonary vein atresia. Clinical and radiographic spectrum. Pediatr. Cardiol. 1983; 4: 105-12. 25 Geggel R. L., Fried R., Tuuri D. T., Fyler D. C.. Reid L. M. Congenital pulmonary vein stenosis: Structural changes in a patient with normal pulmonary artery wedge pressure. J. Am. Coll. Cardiol. 1984; 3: 193-9. 26 Bini R.M.,Cleveland D. C., Ceballos R.. Bargeron L. M., Pacifico A. D.. Kirklin J. W. Congenital pulmonary vein stenosis. Am. J. Cardiol. 1984; 54: 369-75. 27 Pacifico A. D., Mandke N. V., McGrath L. B., Colvin E. V., Bini R. M., Bargeron L. M. Jr. Repair of congenital pulmonary venous stenosis with living autologousatrial tissue. J. Thorac. Cardiovasc. Surg. 1985; 89: 604-9. 28 Reid J. M.. Jamieson M. P., Cowan M. D. Unilateral pulmonary vein stenosis. Br. Heart J. 1986; 55: 599-601. 29 Belcourt C. L., Roy D. L., Nanton M. A. et a/. Stenosis of individual pulmonary veins: Radiologic findings. Radiology 1986; 161: 109-12. 30 Smallhorn J. F.. Freedom R. M., Olley P. M. Pulsed Doppler echocardiographicassessmentof extra-parenchymal pulmonary vein flow. J. Am. Coll. Cardiol. 1987; 9: 573-9. 31 Adey C. K.. Soto B., Shin M. S. Congenital pulmonary vein stenosis: A radiographic study. Radiology 1986; 161: 113-1 7. 32 Whight C. M.. Barratt-Boyes 8. G.. Calder A. L., Neutze J. M., Brandt P. W. T. Total anomalous pulmonary venous connection. Long-term results following repair in infancy. J. Thorac. Cardiovasc. Surg. 1978; 75: 52-63.
Stenosis of pulmonary veins in Down syndrome A. D. STEWART,' A. L. CALDER,1,2J. M. NEUTZE,' A. H. JAMES4 and P. W. T. BRANDT3
'
Deparfments of Cardiology, ,Pathology and 3Radio/ogy, Green Lane Hospital and Department of4Paediatrics, National Women's Hospital, Auckland, New Zealand
Abstract Two patients with Down syndrome, intracardiac communications and elevated pulmonary arteriolar resistance presented early in life. Both patients had significant stenosis of pulmonary veins. The progressive nature of the stenosis is illustrated in one patient. Pulmonary venous stenosis in Down syndrome has been recorded only twice before in the literature, and may play a part in the early onset of pulmonary vascular occlusive disease in some patients. Key words:
Down syndrome; pulmonary vein stenosis
Congenital stenosis of individual pulmonary veins, whether bilateral or unilateral, is uncommon and often occurs in association with other intracardiac anomalies. In Down syndrome, cardiac anomalies are often accompanied by elevated pulmonary arteriolar resistance and in this situation the possibility of associated pulmonary venous stenosis might be overlooked. Two children with Down syndrome and pulmonary vein stenosis are described.
CASE REPORTS Case 1 A male infant with trisomy 21 weighing 2.16 kg was born at 34 weeks gestation. He suffered repeated respiratory infections and grew poorly. At 9 months of age he had a modest systolic murmur with a loud single second heart sound, but no heart failure. Chest X-ray showed normal heart size with a prominent main pulmonary artery and a persistent hazy reticular pattern, particularly on the right side. An electrocardiogram showed evidence of right ventricular hypertrophy, with a frontal plane axis of $90" and persistently upright T waves in lead V1. A two-dimensional echocardiogram showed a secundum atrial septal defect. Right and left upper lobe veins looked dilated but a Doppler assessment was not available. Cardiac catheterization showed markedly elevated pulmonary resistance (Table 1). Tight stenoses were shown at the confluence of the right upper and right middle pulmonary veins and at the junction with the left atrium (Table 1; Fig. la). Lesser gradients were recorded on the left side but the left upper pulmonary vein appeared widely patent (Fig. 1b). Balloon dilatation angioplasty of the terminal right pulmonary vein was
Correspondence: Dr A. L. Calder, Cardiology Department Green Lane Hospital, Auckland 3. New Zealand. A. D. Stewart FRACP. MRCP. Paediatrician. Gtsborne Hospital. A. L. Calder, FRCP(C). Paediatric Cardiologist. J. M. Neutze, FRACP. MD, Head, Cardiology Department. A. G. James, FRACP. Paediatrician. P. W. T. Brandt. FRACB. FRCR, Cardiac Radiologist Accepted for publication 5 July 1991
attempted but the balloon catheter could not be advanced over the wire into the right upper pulmonary vein. Surgical treatment was not thought practical and the baby died in hospital with an overwhelming chest infection at 14 months of age. Post-mortem examination showed a dilated and hypertrophied right heart with a secundum atrial septal defect. Pulmonary veins from the right upper and middle lobes joined together to form one vein which entered the left atrium. The vein was thickened and firm over a considerable distance and the internal diameter was occluded (Fig. 2). The left upper and lower veins joined to form a short channel before entry into the left atrium. Wall thicknesses were again prominent, the most severe narrowing being at the upper pulmonary vein near its junction with the lower vein. The histology of sections of the lungs showed medial hypertrophy of the small and large pulmonary arteries, with extension of muscle peripherally to arteries at the alveolar wall level. No significant difference was noted between the two lungs.
Case 2
A female infant with trisomy 21 weighing 1.5 kg was born at 33 weeks gestation. A large perimembranous ventricular septal defect was diagnosed by two-dimensional echocardiography on the first day of life. A moderate systolic murmur was first documented on day 9 and digoxin and diuretics were given for heart failure from day 17. From that time she developed an unexplained requirement for oxygen (Fio, 0.25, Po2 7.0 kPa, PCO, 6.2 kPa). By 7 weeks of age the murmur was trivial and the second heart sound was loud and single. Serial chest X-rays during the first month of life demonstrated cardiomegaly and pulmonary plethora. These signs gradually resolved, but there was a progressive increase in pulmonary interstitial markings. The electrocardiogram showed evidence of right ventricular hypertrophy with a frontal plane axis of 100" and persistent elevation of T waves in lead VI. On repeat echocardiography at 10 weeks of age, right and left upper and left lower pulmonary veins appeared dilated and Doppler interrogation demonstrated high velocity turbulent flow on entry to the left atrium. Colour mode was not available.
+
Stenosis of pulmonary veins in Down syndrome
193
Fig. 2 Photomicrographsof the right pulmonary vein of Case 1 at 14 months of age. (a) Narrowing of the lumen of the right pulmonary vein near left atrium is produced by medial hypertrophy (M) and fibrous intimal thickening (I). (iel) = Internal elastic lamina. (b) Section taken more proximally, at the junction with right upper pulmonary vein, the lumen is occluded by fibromuscular thickening with loss of normal wall structure. The media, intima and iel cannot be identified.
Fig. 1 Frames from cineangiogram in right anterior oblique projection in Case 1 at age 9 months. (a) Following an injection through a number 5 French catheter, in the right upper pulmonary vein (RU) stenoses at the entry into the left atrium and at the junction with the right middle pulmonary vein (RM) are seen. (b) Following an injection into the left upper pulmonary vein (LU), no significant narrowing at the entry into the left atrium (LA) is seen; however at post-mortem examination 5 months later the orifice was less than 1.5 mm.
Cardiac catheterization at 10 weeks confirmed the presence of a ventricular septal defect with elevated pulmonary arteriolar resistanceand a small left to right shunt (Table 1).The cineangiocardiographic findings indicated pulmonary venous obstruction of the right upper lobe and of the whole of the left lung (Fig. 3). Surgery was not considered practical and the child died at 5 months of age. A post-mortem examination was not obtained.
Congenital cardiac defects are frequent in children with Down syndrome, the commonest anomalies being ventricular septal defects and atrioventricular canal defects.' - 4 Down syndrome children with intracardiac communications often appear to show greater elevation of pulmonary resistance than patients with similar lesions but without Down ~ y n d r o m e . ~Possible -~ explanations for these observationsinclude nocturnal hypoxaemia secondary to sleep-induced airways Lung hypoplasia with reduced numbers of alveoli per acinus was reported by Cooney and Thurlbeck.12 However Haworth found only a slight reduction in the numbers of alveoli per acinus in 7 of 11 children less than 2 years of age with Down ~yndrome.'~ Histological studies showing earlier developmentof irreversible pulmonary vascular occlusive diseasegor intrinsic differences in pulmonary arterial responses14 in Down syndrome children
A. D. Stewart eta/.
194
Fig. 3 Frames from crneangiocardiogramin Case 2, right anterior oblique projection. (a) Following injection in the main pulmonary artery (MPA) the right lower lobe pulmonary artery (RPA) was disproportionately large with poor flow to the right upper lobe and left lung. (b) The levophase shows rapid flow through the right lower lobe with flow to the leR atrium (LA) only through the right lower pulmonary vein (arrow).No filling of the pulmonary veins was seen on the left side: contrast persisted in the left pulmonary artery (LPA) at the end of the cine run.
Table 1 Data from cardiac catheterization study
Site Right atrium Pulmonary artery RMZW RLZW RUPV LUPV LLPV Left atrium Left ventricle opms PAR1 PAR1 with Isoprenalrne
Case 1 Pressure mmHg KPa
3
0.4
60
8.0
27 7 9 5
10517
3.6 0.9
1.2 0.7 141.9
0, Sat'n
59 62
98 92 93 82 89
10 12.6 7.2
Case 2 Pressure mmHg KPa 4
51 24
3
0.5 6.8 3.2 0.4
88/15
57 67
-
-
2.5
0, SatW
0.3 11.812 1.5 6.2t
97
~
*Oxygen by nasal prongs, +Assumedoxygen consumption Bold pressure numerals = mean pressure, RMZW, RLZW = right mid. right lower zone wedge pressure, RUPV, LUPV. LLPV = right upper, left upper and left lower pulmonary veins, QpIOs = pulmonary to systemic flow ratio, PAR1 = pulmonary arteriolar resistance index (units M2), using equation
IPA - LA) Dressure difference
pulmonary flow index compared with other patients have not been supported by other on Doppler interrogation in the region of entry of pulmonary ~ t u d i e s . ' ~At * ' ~least 90 cases of obstruction of normally conveins to the left atrium provides strong support for obstruction.m nected individual pulmonary veins have been d e s ~ r i b e d ~ ~ ' ~ - ~ This ' pattern was present in our patient who had a Doppler and 55% were associated with congenital cardiac anomalies. study. Narrowing of the insertions of pulmonary veins may be Only two children had Down ~ y n d r o m e ~and . ~ * the association suspected on two-dimensional echocardiographybut resolution may be coincidental. may be inadequate to allow for certain diagnosis on this alone. Pulmonary venous stenosis classically presents with normal Detailed diagnosis requires cardiac catheterization. The difheart size and progressive pulmonary venous congestion with ference between wedged pulmonary arterial pressure and left oedema. Increased reticular markings and relative diminution of atrial pressure may indicate pulmonary venous obstruction. In the size of the affected lung on the chest X-ray suggest Case 2. the pressures accurately indicated obstruction of the pulmonary venous obstruction.20*29 High velocity turbulent flow right upper pulmonary veins (Table 1). When pulmonary venous
Stenosis of pulmonary veins in Down syndrome
obstruction becomes severe and forward flow minimal, as in the left lung in Case 2, meaningful wedged pulmonary arterial pressures may be difficult or impossible to 0btain.2~Direct cannulation of the pulmonary veins, as in Case 1, is clearly more satisfactory although the difference in pressure between pulmonary vein and left atrium may be exaggerated by the presence of the catheter in the narrowed vessel. Further information is provided by cineangiocardiography after injection in the pulModerate obstrucmonary artery or pulmonary veins22*24.29*31 tions may be demonstrated after an injection in the pulmonary artery, as with the right upper lobe in Case 2, although opacification is always poor. Where the obstruction is severe, as with the left lung in Case 2, pulmonary veins may not be seen at all. The persistence of contrast in the pulmonary artery and failure to opacity the pulmonary vein allows a confident diagnosis of pulmonary venous obstruction but does not demonstrate the anatomy. Diagnosis of pulmonary venous obstruction is important because of the poor prognosis21-22-26although repair using living autologous atrial tissue has shown p r ~ m i s e . ~Case ’ 1 illustrates progression of pulmonary venous obstruction with time. Although balloon dilatation was attempted, this was done without conviction a n d proved technically impossible. The massive thickening of fibrous tissue in the wall of the pulmonary veins clearly indicates that this would have been a futile procedure. Progression of pulmonary venous stenosis was likely in Case 2 and has been reported in earlier Poor results with surgical treatment may be related in part to this progression. Although repair has sometimes been successful initially, restenosis of the pulmonary veins is common, often within 1-5 month^.^^-^^ Histological findings at post-mortem have shown intimal h y p e r p l a ~ i a ~a n~d- ~ acellular ~ fibrous thickening at the area of the surgical repair.26 Clinical and radiological findings may provide clues to the diagnosis of pulmonary venous stenosis and careful study with two-dimensional echocardiography and Doppler interrogation should detect most cases. Detailed display of the anomalies requires cardiac catheterization. It seems likely, however, that few will be suitable for treatment with balloon angioplasty or surgery.
REFERENCES Liu M. C.. Corlett K. A study of congenital heart defects in Mongolism. Arch. Dis. Child. 1959; 34: 410-19. Rowe A. D., Uchida 1. A. Cardiac malformation in mongolism: A prospective study of 184 mongoloid children. Am. J. Med. 1961; 31: 726-35. Callum L.. Leibman J. The association of congenital heart disease with Down’s Syndrome. Am. J. Cardiol. 1969; 24: 354-7. Tandon R.. Edwards J. E. Cardiac malformations associated with Down’s Syndrome. Circulation 1973; 6 7 1349-55. Chi T. L.,Krovetz L. J. The pulmonary vascular bed in children with Down’s Syndrome. J. Pediatr. 1975; 86: 533-8. Soudon P., Stijns M., Tremouroux-Wattiez M., Vliers A. Precocity of pulmonary vascular obstruction in Down’s Syndrome. Eur. J. Cardiol. 1975; 214: 473-6. Park S. C., Matthews R. A,, Zuberbuhler J. R.. Rowe R. D., Neches W H.. Lenox C. C. Down Syndrome with congenital heart malformation. Am. J. Dis. Child. 1977; 131: 29-33. Greenwood R. D., Nadas A. S. The clinical course of cardiac disease in Down’s Syndrome. Pediatr. 1976; 58: 893-7.
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