Hypoplastic Pulmonary Arteries Research Articles

Effectiveness of pulse oximetry screening for congenital heart disease in asymptomatic newborns.

To determine the sensitivity, specificity, predictive value, and accuracy of a program of pulse oximetry screening of asymptomatic newborns for critical congenital cardiovascular malformation (CCVM). Pulse oximetry was performed on asymptomatic newborns in the well-infant nurseries of 2 hospitals. Cardiac ultrasound was performed on infants with positive screens (saturation <or=95% at >24 hours). Data regarding true and false positives as well as negatives were collected and analyzed. Oximetry was performed on 11 281 asymptomatic newborns, and 3 cases of CCVM were detected (total anomalous pulmonary venous return x2, truncus arteriosus). During the study interval, there were 9 live births of infants with CCVM from a group of 15 fetuses with CCVM detected by fetal echocardiography. Six infants with CCVM were symptomatic before screening. There was 1 false-positive screen. Two infants with negative screens were readmitted (coarctation, hypoplastic left pulmonary artery with aorto-pulmonary collaterals). Other cardiac diagnoses in the database search were nonurgent, including cases of patent foramen ovale, peripheral pulmonic stenosis, and ventricular septal defect. The prevalence of critical CCVM among all live births was 1 in 564 and among the screened population was 1 in 2256 (sensitivity: 60%; specificity: 99.95%; positive predictive value: 75%; negative predictive value: 99.98%; accuracy: 99.97%). This screening test is simple, noninvasive, and inexpensive and can be administered in conjunction with state-mandated screening. The false-negative screen patients had lesions not amenable to detection by oximetry. The sensitivity, specificity, and predictive value in this population are satisfactory, indicating that screening should be applied to larger populations, particularly where lower rates of fetal detection result in increased CCVM prevalence in asymptomatic newborns.

Single-Stage Unifocalization and Correction with Median Sternotomy in Complex Pulmonary Atresia

Objective: This study assessed the surgical and post-operative outcome of single-stage complete unifocalization and repair procedure in patients with complex pulmonary atresia. Methods: From 1999 to 2001. we performed complete unifocalization and correction in 10 patients with complex pulmonary atresia. Their ages ranged from 10 months to 17 years. All patients were evaluated with pulmonary angiography and divided into two groups according to the development of native pulmonary arteries. Group I patients had hypoplastic pulmonary arteries and MAPCAs and Group II patients had only MAPCAs without native pulmonary arteries. With median sternotomy, all MAPCAs were prepared and anastomozed to native pulmonary arteries in group I patients or on a pericardial roll in group II patients without using cardiopulmonary bypass. Right ventricle to pulmonary arterial continuity was established with a valved conduit under CPB. VSD was closed in two patients. Results: Eight patients had complete repair without VSD closure. They were followed periodically with pulmonary angiography. Two patients developed congestive heart failure. One of them was reoperated and VSD was closed. The other patient died because of untraceable congestive heart failure. The decision for VSD closure was made in two patients due to suitable pulmonary arterial vascular tree. However, one of them had to be reoperated and VSD patch was removed. This patient died because of sepsis on the postoperative 26th day. We are following the rest of the patients with echocardiography and pulmonary angiography. Conclusion: Single stage complete unifocalization and repair should be the treatment of choice in patients with complex pulmonary atresia. This procedure provides a significant development in neopulmonary arterial system. However, the accurate criterias for VSD closure are still controversial. After the operation, these patients had to be followed closely with echocardiography and pulmonary angiography because of the absolute risk of congestive heart failure in patients with VSD left open.

Surgical treatment of complex cardiac anomalies: the 'one and one half ventricle repair'.

One and one half ventricle repair is a surgical option for congenital cardiac anomalies characterised by right ventricle (RV) hypoplasia and/or dysplasia. From March 1994 to March 2001, eight patients (mean age 9.1 years, range 7 months to 35 years) with hypoplastic and/or dysplastic RV underwent correction of their intracardiac anomaly in association with a BCPS (one and one half ventricle repair). Preoperative diagnoses included: Ebstein's anomaly of tricuspid valve (TV) in two, inlet ventricular septal defect (VSD) in association with straddling/overriding TV in two patients, pulmonary atresia-intact ventricular septum in one, tertralogy of Fallot in association with complete atrioventricular canal defect in one, truncus arteriosus in one and heterotaxy syndrome with VSD and anomalous systemic venous return in one. Four patients underwent previous surgery which included: main pulmonary artery (MPA) banding in two patients, pulmonary valvotomy, central shunt and right ventricular outflow tract reconstruction in one, pulmonary artery separation from truncus arteriosus and modified Blalock-Taussig shunt in one, and MPA closure in one. Two patients underwent a bidirectional cavo-pulmonary shunt before the one and a one half ventricle repair. Associated cardiac lesions were treated simultaneously. There were no hospital deaths. All the patients were discharged home in good clinical conditions. There were no late deaths or reoperations. At mean follow-up of 29.8 months (range 8 months to 7.3 years) all the patients are alive and in good general conditions. MPA percutaneous balloon dilation was performed in two patients at 33 and 4 months, respectively, both after MPA reconstruction (which was previously ligated) and dilation of the left pulmonary artery branch in one patient, repeated twice at 10 and 14 months from repair, for a hypoplastic left pulmonary artery after truncus arteriosus repair. Surgical treatment of congenital cardiac anomalies in the presence of a hypoplastic and or a dysplastic RV by means of one and one half ventricle repair has the advantage of reducing the surgical risk for biventricular repair, and compared to the Fontan circulation, it maintains a low right atrium pressure, a pulsatile pulmonary blood flow and improves the systemic oxygen saturation. Short and medium-term results are promising. Longer follow-up is needed, to prove the efficacy of such a repair, in the long term.

Single-stage unifocalization and correction with median sternotomy in complex pulmonary atresia

Objective: This study assessed the surgical and post-operative outcome of single-stage complete unifocalization and repair procedure in patients with complex pulmonary atresia. Methods: From 1999 to 2001, we performed complete unifocalization and correction in 10 patients with complex pulmonary atresia. Their ages ranged from 10 months to 17 years. All patients were evaluated with pulmonary angiography and divided into two groups according to the development of native pulmonary arteries. Group I patients had hypoplastic pulmonary arteries and MAPCAs and Group II patients had only MAPCAs without native pulmonary arteries. With median sternotomy, all MAPCAs were prepared and anastomozed to native pulmonary arteries in group I patients or on a pericardial roll in group II patients without using cardiopulmonary bypass. Right ventricle to pulmonary arterial continuity was established with a valved conduit under CPB. VSD was closed in two patients. Results: Eight patients had complete repair without VSD closure. They were followed periodically with pulmonary angiography. Two patients developed congestive heart failure. One of them was reoperated and VSD was closed. The other patient died because of untractable congestive heart failure. The decision for VSD closure was made in two patients due to suitable pulmonary arterial vascular tree. However, one of them had to be reoperated and VSD patch was removed. This patient died because of sepsis on the postoperative 26th day. We are following the rest of the patients with echocardiography and pulmonary angiography. Conclusion: Single stage complete unifocalization and repair should be the treatment of choice in patients with complex pulmonary atresia. This procedure provides a significant development in neopulmonary arterial system. However, the accurate criterias for VSD closure are still controversial. After the operation, these patients had to be followed closely with echocardiography and pulmonary angiography because of the absolute risk of congestive heart failure in patients with VSD left open.

Surgical treatment of complex cardiac anomalies: the 'one and one half ventricle repair'.

One and one half ventricle repair is a surgical option for congenital cardiac anomalies characterised by right ventricle (RV) hypoplasia and/or dysplasia. From March 1994 to March 2001, eight patients (mean age 9.1 years, range 7 months to 35 years) with hypoplastic and/or dysplastic RV underwent correction of their intracardiac anomaly in association with a BCPS (one and one half ventricle repair). Preoperative diagnoses included: Ebstein's anomaly of tricuspid valve (TV) in two, inlet ventricular septal defect (VSD) in association with straddling/overriding TV in two patients, pulmonary atresia-intact ventricular septum in one, tertralogy of Fallot in association with complete atrioventricular canal defect in one, truncus arteriosus in one and heterotaxy syndrome with VSD and anomalous systemic venous return in one. Four patients underwent previous surgery which included: main pulmonary artery (MPA) banding in two patients, pulmonary valvotomy, central shunt and right ventricular outflow tract reconstruction in one, pulmonary artery separation from truncus arteriosus and modified Blalock-Taussig shunt in one, and MPA closure in one. Two patients underwent a bidirectional cavo-pulmonary shunt before the one and a one half ventricle repair. Associated cardiac lesions were treated simultaneously. There were no hospital deaths. All the patients were discharged home in good clinical conditions. There were no late deaths or reoperations. At mean follow-up of 29.8 months (range 8 months to 7.3 years) all the patients are alive and in good general conditions. MPA percutaneous balloon dilation was performed in two patients at 33 and 4 months, respectively, both after MPA reconstruction (which was previously ligated) and dilation of the left pulmonary artery branch in one patient, repeated twice at 10 and 14 months from repair, for a hypoplastic left pulmonary artery after truncus arteriosus repair. Surgical treatment of congenital cardiac anomalies in the presence of a hypoplastic and or a dysplastic RV by means of one and one half ventricle repair has the advantage of reducing the surgical risk for biventricular repair, and compared to the Fontan circulation, it maintains a low right atrium pressure, a pulsatile pulmonary blood flow and improves the systemic oxygen saturation. Short and medium-term results are promising. Longer follow-up is needed, to prove the efficacy of such a repair, in the long term.

Surgical creation of aortopulmonary window in selected patients with pulmonary atresia with poorly developed aortopulmonary collaterals and hypoplastic pulmonary arteries.

The morphologic characteristics of the pulmonary circulation vary widely in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals. Although we favor single-stage unifocalization and complete repair as the procedure of choice, a subgroup of patients who meet specific criteria have been treated with initial surgical creation of an aortopulmonary window. Eighteen patients who were considered unsuitable candidates for single-stage repair underwent surgical creation of an aortopulmonary window. Selection criteria included the following: (1) presence of centrally confluent true pulmonary arteries 1.0 to 2.5 mm in diameter, with a well-developed peripheral arborization pattern; (2) multiple small aortopulmonary collateral vessels, most of which communicated with the true pulmonary arterial system; and (3) the presence of marked cyanosis. There were no early deaths, and the 2 late deaths were both unrelated to the procedure. Follow-up angiography (n = 17) demonstrated good growth of true pulmonary arteries in 15 of 17 cases (88%). Mean pulmonary artery diameter increased from 1.76 mm to 3.45 mm. Subsequent operations have been performed in 15 of 18 cases (83%). Intracardiac repair with or without additional unifocalization was achieved in 8 of these 15 (53%). Seven patients (47%) have undergone staged unifocalization as the next procedure; of these, 3 were able to have intracardiac repair. Thus 11 of the 15 patients who have undergone second operations (73%) have had complete intracardiac repair. The initial surgical creation of an aortopulmonary window in carefully selected patients can increase the size of the true pulmonary arteries, making these patients better candidates for eventual intracardiac repair. The procedure should be avoided in patients with pulmonary overcirculation, a predominance of isolated supply collaterals, or true pulmonary arteries larger than 2.5 mm in diameter, and it is not applicable without a true pulmonary artery central confluence.

Repair of Ebstein’s anomaly in the symptomatic neonate: an evolution of technique with 7-year follow-up

Background. Ebstein’s anomaly in the severely symptomatic neonate is usually fatal. Until recently, successful repair has not been reported and various palliative operations have been associated with prohibitive mortality. Recently, we published our initial results with biventricular repair in 3 severely symptomatic neonates. We now update our experience with emphasis on the evolution of our surgical technique and the medium-term follow-up of these patients. Methods. Since 1994, 8 severely symptomatic neonates and young infants underwent biventricular repair by one surgeon. Six had Ebstein’s anomaly and 2 had physiologically similar pathology with severe tricuspid valve dysplasia, cyanosis, and gross cardiomegaly. One Ebstein patient (2 months old) had undergone a Starnes operation elsewhere. Weight of the patients at operation ranged from 2.1 to 6.4 kg (mean 2.7 kg). Five patients had either anatomical (n = 3) or functional (n = 2) pulmonary atresia. Severe (4/4) tricuspid regurgitation was present in all except 1 (Starnes operation), and cardiothoracic ratio exceeded 0.85 in all patients. Echocardiography severity scores were >1.5 in 6 (grade 4/4) and 1.3 in 1 (grade 3/4). Repair consisted of tricuspid valve repair, reduction atrioplasty, relief of right ventricular outflow tract obstruction, partial closure of atrial septal defect, and correction of all associated cardiac defects. Technique of tricuspid valve repair evolved over time: 3 had Danielson-type repairs, 3 had DeVega-type repairs, and 2 had complex repairs. Results. One patient died in hospital: a 2.1 kg patient with tricuspid dysplasia, anatomical pulmonary atresia, and hypoplastic pulmonary arteries. The other 7 patients are all in functional class I and in sinus rhythm. Although 3 patients had symptomatic tachyarrhythmias before surgery, no child has experienced SVT after discharge. At recent echocardiography 4 patients had mild tricuspid regurgitation, and 2 had mild-moderate (2/4) tricuspid regurgitation. Three patients are now 7 years old, 2 are almost 2 years old, and the remaining 2 patients are 1 year old. Conclusions. Surgical repair of the severely symptomatic neonate with Ebstein’s anomaly is feasible and safe. The repair appears durable and with good medium-term outcome.

A 32 Years-old Female Accompanied by the Loss of Lung Volume, Complained of Hemoptysis

A 32-year-old woman presented with cough and hemoptysis. The radiologic findings showed increased interstitial markings in the right lung, a slightly decreased lung volume in the RLL and a hypoplastic right pulmonary artery with collaterals in the mediastinum and subpleural area. The pulmonary angiography showed an abrupt occlusion of the right lower pulmonary artery. The echocardiographic findings indicated pulmonary hypertension. A doppler leg ultrasonograph disclosed that the left popliteal vein was occluded with collateral veins, not filling the defect in the venous lumen. The D-dimer increased 1.0 ug/ml. This condition was initially misdiagnosed as a congenital pulmonary artery agenesis. Finally, a chronic pulmonary thromboembolism with a deep vein thrombosis was confirmed.

Use of small stents for rehabilitation of hypoplastic pulmonary arteries in pulmonary atresia with ventricular septal defect.

Branch pulmonary artery stenosis frequently occurs in pulmonary atresia with ventricular septal defect (PA/VSD). Balloon dilation alone is often unsuccessful in patients with severely hypoplastic pulmonary arteries with residual stenoses after surgical repair. In an attempt to promote distal pulmonary artery growth, 17 stents were placed in 12 severely stenotic pulmonary artery lesions in 10 patients with PA/VSD. All had prior surgery, including pulmonary artery repair, right ventricle to pulmonary artery homograft, and, in 6 of 10, closure of VSD. Median age at stent placement was 16.8 months (range, 13.2-56). Stents were placed using 3.0, 3.5, or 4.0 mm balloons in all but one lesion, in which a 7 mm balloon was used. Following stent placement, there was an increase in the lesion diameter from 1.5 to 3.4 mm (P < 0.05) and an increase in flow to the affected lung from 27% to 34% (P < 0.05). Repeat catheterization 2 to 6 months after stenting in six patients revealed complete occlusion in two of eight lesions. In the other six vessels, there was an increase in distal vessel diameter from 2.96 to 3.94 mm (P < 0.05) even though four had severe restenosis requiring restenting. Two patients underwent surgical pulmonary artery reconstruction and stent removal because of adequate distal vessel growth. Stenting of hypoplastic pulmonary arteries in PA/VSD results in immediate improvement in vessel size and blood flow. Stent restenosis is common although distal vessel growth can be achieved. Stenting of these lesions should be reserved only for those patients unresponsive to other interventions.

Pulmonary atresia with ventricular septal defect, extremely hypoplastic pulmonary arteries, major aorto-pulmonary collaterals.

Among 63 patients with pulmonary atresia and ventricular septal defect (VSD), 10 patients with extreme hypoplasia of the pulmonary arteries (PA) (mean Nakata index 20.6 mm(2)/m(2)), but with confluent arteries and a diminutive main PA, and major aorto-pulmonary collaterals (MAPCAS), have been submitted to a 'rehabilitation' of the PA with several stages: (i) connection between RV and PAs, (ii) interventional catheterizations, (iii) complete correction with or without unifocalisation. We report here the results of this approach. The RV-PA connection was direct (nine cases) or with an homograft conduit (one case), done under normothermic cardiopulmonary by-pass in patients aged 4.9 months (range 0.1-18 months). Subsequently, six underwent interventional catheterizations (dilations and stents in the PA, MAPCAS occlusion by coils). Complete correction was done in seven patients (mean age 30 months, range 8-49). One patient is awaiting correction. One patient died after the first stage. All patients having had the third stage had a satisfactory development of the PA, had a complete closure of the VSD and a satisfactory reconstruction of the PA bifurcation. There was one death of severe pulmonary infection 6 months after repair. All other patients have been followed by catheterization and/or echocardiograms. With a follow-up of 83+/-65 months, all patients are improved, 50% have no cardiac medications, none has residual shunt, RV/LV pressure ratio is 0.6 (range 0.3-1). The strategy of 'rehabilitation' of PA allowing: (i) antegrade flow in the PA, (ii) interventional catheterizations, (iii) growth of the PA with possible angiogenesis, (iv) complete correction, is a logical approach to be undertaken in the young patient and is a valid alternative to strategies relying more on MAPCAS for pulmonary vascular supply. The therapeutic sequences depend upon the individual anatomy.

TRANSCATHETER INTERVENTION IN THE NEONATE WITH CONGENITAL HEART DISEASE

Over the past 30 years, interventional cardiology has developed as a distinct subspecialty, playing a major role in the management of infants with CHD. In the neonatal period, a wide variety of transcatheter interventions are performed routinely, either as palliation or therapy, as adjunct to surgery, or in place of surgical intervention. Among these are creation or enlargement of ASDs to allow atrial mixing; balloon valvotomy to treat congenital valvar stenoses; balloon angioplasty or stenting of stenotic vessels (pulmonary arteries, coarctation of aorta, or systemic or pulmonary veins) or postoperative anastomoses; closure of [figure: see text] unwanted vessels (congenital fistulae or collaterals); and other miscellaneous interventions. A wide variety of patients are candidates for these procedures, including those with transposition of the great arteries or other defects with transposition physiology, left atrial outlet obstruction and hypertension, severe valvar pulmonary or aortic stenosis, hypoplastic stenotic pulmonary arteries with severe symptomatology, severe coarctation of aorta and high surgical risks, large aortopulmonary collaterals or other hemodynamically significant unwanted vessels, acute thrombosis of certain surgical anastomoses, and many more. In experienced hands, these procedures are highly successful and safe, with a low morbidity and mortality (less than 1%).

Endovascular stent graft treatment of a pulmonary artery pseudoaneurysm

A 5-year-old girl with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries, and multiple pulmonary artery reconstructive procedures presented with an enlarging pulmonary artery pseudoaneurysm. A previous attempt to occlude the aneurysm was unsuccessful and the aneurysm continued to enlarge. We describe the percutaneous placement of an endovascular stent graft to occlude the aneurysm. This novel use of a covered graft effectively treated a potentially lethal problem without reoperative thoracotomy or sternotomy.

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome

An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.

Surgical management of tetralogy of fallot in the first year of life

Background. The surgical approach to tetralogy of Fallot (TOF) continues to evolve and now many centers favor early repair for TOF. Methods. Our experience includes 82 consecutive patients less than 1 year old with TOF (n = 74) and TOF with pulmonary atresia (n = 8) who were operated on between January 1992 and March 1998. Mean age at repair was 5.2 ± 1.2 months and mean weight was 4.5 ± 0.4 kg. Seven patients (anomalous left anterior descending artery [n = 1], pulmonary atresia with hypoplastic pulmonary arteries [n = 6]), underwent palliative procedures in the neonatal period followed by complete repair. Forty-nine patients (59%) were symptomatic (severe cyanosis or hypoxic spells), and 33 patients (41%) were asymptomatic. A combined transatrial-transpulmonary approach was employed in 28 patients (34%), and transannular patch or conduit for reconstruction of the right ventricular outflow tract (RVOT) was required in 54 patients (66%). The mean Nakata index was 160 ± 25 mm 2/m 2. Results. There were no hospital deaths. Mean post-repair peak right ventricular/systemic pressure ratio was 0.48 ± 0.1. There were no late deaths or reoperations during a mean follow-up of 23 ± 5 months. All patients are currently asymptomatic and in New York Heart Association class 1. Postoperative evaluation by two-dimensional and Doppler echocardiography or cardiac catheterization showed minimal pulmonary artery stenosis with a mean pressure gradient of 15 ± 6 mm Hg across the RVOT. Conclusions. Our experience suggests that early repair of TOF can yield excellent results and initial palliation does not preclude early complete repair.

Median sternotomy single stage complete unifocalization for pulmonary atresia, major aorto-pulmonary collateral arteries and VSD-early experience.

It is a prospective study to assess the results of median sternotomy, single stage complete unifocalization and repair for ventricular septal defect (VSD), pulmonary atresia and major aorto pulmonary collateral arteries (MAPCAs). From June 97 to August 98, 20 patients were treated with single stage complete unifocalization and repair. Their ages ranged from 6 months to 11 years. Through median sternotomy, all MAPCAs were dissected and looped. On cardiopulmonary bypass, MAPCAs were anastomosed to native pulmonary arteries (PAs) or to MAPCAs. VSD was closed if possible and RV to PA continuity was established with a homograft conduit. If complete repair was not suitable, central shunt was done from ascending aorta to reconstructed PA with a polytetrafluroethylene graft. The patients were divided into three groups according to the arborization pattern in the lungs. Group 1 had well formed native PAs with MAPCAs, group 2 had hypoplastic PAs with MAPCAs and group 3 had only MAPCAs. Twenty patients had 21 procedures. All MAPCAs were unifocalized with tissue-to-tissue anastomosis for future growth, except one in whom polytetrafluroethylene tube graft was used to attain the confluence. In group 1, all seven patients had complete unifocalization and repair. In group 2, four patients had RV to PA conduit and two patients had central shunt. In group 3, three patients had complete repair, three patients had RV to PA conduit and one patient had central shunt. There were three deaths, two in group 2 and one in group 3. The first patient died due to a wrong decision to close the VSD, the second patient died due to missed large MAPCA in preoperative angio and the third patient was a 7-year-old boy who died with irreversible pulmonary vascular changes due to unprotected MAPCAs. To conclude, complete repair/RV-PA conduit/central shunt should be done according to the size of the total pulmonary vasculature in patients with group 1, 2 and 3 with protected PAs/MAPCAs and in hypoplastic or absent PAs with unprotected MAPCAs (less than 1 year) and protected MAPCAs. We are yet to determine the surgical procedure to be performed in hypoplastic/absent PAs with unprotected MAPCAs more than 1 year. It is very essential to delineate all the MAPCAs up to the level of the diaphragm preoperatively.

Balloon dilation of the right ventricular outflow tract in tetralogy of Fallot: a palliative procedure

Fifteen patients requiring palliation for tetralogy of Fallot were treated by balloon dilation because of hypercyanotic spells. The mean age at dilation was 1.9 +/- 0.7 years (range 0.5-3), and the mean weight 9.8 +/- 2.1 kg (range 6.0-13.5). Dilation of the outflow tract was combined with dilation of the left and/or right pulmonary arteries in 5 patients. Successful dilation was achieved in 12 patients (80%), but failed in 3 patients with hypoplastic pulmonary arteries. In one patient, the stenosis of the right pulmonary artery could not be dilated because of a very sharp angle at the site of the stenosis. Two of the 3 patients in whom the procedure failed died of severe cyanotic spells within 24 hours of the unsuccessful procedure. No major complications occurred during or after the procedure in the cases undergoing successful dilation. The arterial oxygen saturation increased significantly, from 71 +/- 5.7% to 89 +/- 3.9%, immediately after the procedure (p < 0.005). During a period of follow up of 6 +/- 3.7 months (range 1-13), the procedure was repeated on 3 occasions, and successfully accomplished in 2 of these. In conclusion, balloon dilation is a satisfactory palliative procedure for tetralogy of Fallot in those units in which total correction is not performed under 2 to 3 years of age.

Total repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: An integrated approach

Background: Predicting postrepair right ventricular/left ventricular pressure ratio has prognostic relevance for patients undergoing total repair of pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. To this purpose, we currently rely on 2 novel parameters: (1) preoperative total neopulmonary arterial index and (2) mean pulmonary artery pressure changes during an intraoperative flow study. Methods: Since January 1994, 15 consecutive patients (aged 64 ± 54 months) with pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals were managed according to total neopulmonary arterial index. Seven patients with hypoplastic pulmonary arteries and a total neopulmonary arterial index less than 150 mm 2/m 2 underwent palliative right ventricular outflow tract reconstruction followed by secondary 1-stage unifocalization and ventricular septal defect closure. The other 8 patients with a preoperative index of more than 150 mm 2/m 2 underwent primary single-stage unifocalization and repair. The ventricular septal defect was closed in all cases (reopened in 1). In 9, such decision was based on an intraoperative flow study. Results: Patients treated by right ventricular outflow tract reconstruction had a significant increase of pulmonary artery index ( P = .006) within 22 ± 6 months. Repair was successful in 14 cases (postrepair right ventricular/left ventricular pressure ratio = 0.47 ± 0.1). One hospital death occurred as a result of pulmonary vascular obstructive disease, despite a reassuring intraoperative flow study. Accuracy of this test in predicting the postrepair mean pulmonary artery pressure was 89% (95% CI: 51%-99%). At follow-up (18 ± 12 months), all patients are free of symptoms, requiring no medications. Conclusion: The integrated approach to total repair of pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals by preoperative calculation of total neopulmonary arterial index, right ventricular outflow tract reconstruction (when required), and intraoperative flow study may lead to optimal intermediate results. (J Thorac Cardiovasc Surg 1998;116:914-23)

REVISED CLINICAL DEFINITION OF ALAGILLE SYNDROME BASED ONJAGGEDI MUTATION IDENTIFICATION

193 Jagged1 (JAG1) has been identified as the disease gene for Alagille syndrome (AGS), a dominantly inherited multisystem disorder involving the liver, heart, and other systems. Pedigree analysis has demonstrated that expression of this disorder is highly variable, with partial phenotypes seen in family members of probands. We therefore hypothesized that individuals with partial phenotypes of AGS (i.e. isolated heart defects) will be found to haveJagged1 mutations. To test this, we studied family members of patients with classically defined AGS and patients ascertained through cardiology with isolated heart defects of the type seen in AGS (peripheral pulmonic stenosis, tetralogy of Fallot). Thirty two AGS patients with mutations in JAG1 were identified and in seven cases the mutation was found to be inherited. In 4 of these 7, there is a family member with cardiac findings and no clinical liver disease(unspecified heart murmur in 2 parents, peripheral pulmonic stenosis in a daughter and an atrial septal defect in another father). JAG1 mutations seen in these families were variable and included 2 small deletions, a five base pair insertion and a splicing mutation. To determine if cardiology patients without a family history of Alagille syndrome also have JAG1 mutations, we initiated screening of patients with isolated cardiac disease. While these studies are still ongoing, to date, we have found JAG1 mutations in three patients. The first is a 3 1/2 year old with pulmonic stenosis, and a maternal family history of heart defects who has a single base pair insertion in exon 2 ofJAG1. Patient 2 is a 5 1/2 year old with tetralogy of Fallot and hypoplastic pulmonary arteries. Molecular cytogenetic analysis showed a deletion of 20p12, encompassing the entire JAG1 gene. The third patient is a 24 year old male with tetralogy of Fallot and a single base mutation in exon 5 that leads to an immediate stop codon. After identification of these mutations, patient 1 was found to have abnormal liver function tests. We have identified JAG1 mutations in multiple patients with partial phenotypes of AGS including family members of classically affected probands, and patients with “isolated” cardiac defects. We therefore propose that the diagnosis of AGS include patients without hepatic manifestations. Delineation of the spectrum of clinical features associated with JAG1 mutations is important both in order to understand the action of this gene in liver and heart development and for genetic counseling of mildly affected individuals who may be at risk for having children with a more severe clinical picture. Collaboration between cardiologists and gastroenterologists will enhance ascertainment and subsequent care of these patients

One-Lung Fontan Operation: Hemodynamics and Surgical Outcome

Background. This study examined the results of a Fontan operation for patients with acquired atresia of one main branch pulmonary artery. Methods. The data for 7 patients identified as having a hypoplastic left pulmonary artery discontinuous from the right pulmonary artery were compared with those for 65 patients with continuous pulmonary arteries who consecutively underwent a completion Fontan procedure. Results. No significant differences were found preoperatively with respect to right atrial pressure, aortic saturation, ventricular end-diastolic pressure, pulmonary artery pressure, pulmonary blood flow, or pulmonary vascular resistance. In the first 24 postoperative hours, there were no significant differences in heart rate, urine output, systemic venous pressure, or pulmonary venous pressure. Also, data regarding hospitalization length, effusions, and mortality were similar between the two groups. Postoperative systemic arterial saturation was lower in the one-lung group. There were no early postoperative deaths in the one-lung group, and 5 of the 7 patients are long-term survivors. Conclusions. A completion Fontan procedure can be successfully performed in patients with a hypoplastic and discontinuous left pulmonary artery, although postoperative systemic arterial saturation is not as high as in patients with continuous pulmonary arteries.

Pulmonary artery growth after systemic-to-pulmonary shunt in children with a univentricular heart and a hypoplastic pulmonary artery bed. Implications for Fontan surgery.

The aim of the study was to investigate the developmental pattern of hypoplastic pulmonary artery (p.a.) bed augmented by systemic-to-pulmonary shunt in children with univentricular heart scheduled for Fontan surgery. For the study, a highly selected patient cohort was chosen (12 patients aged between 5 and 19 years; mean 9.5 years) with comparable initial morphological conditions of univentricular heart and hypoplastic p.a. bed, who after mandatory systemic-to-pulmonary shunt underwent Fontan procedure at time of normalization of pulmonary artery size. Further selection criteria were: normal pulmonary vascular resistance at time of Fontan procedure, competent a-v valve(s), and globally unimpaired ventricular function. All patients were grouped according to the preoperative pulmonary flow index (Qpi; L/min/m2 b.s.a.) measured immediately before Fontan operation: Group A: 1.5-2.5; B: 3.0-4.0; C: 4.0-5.0; D: > 6.0, and their cardio-pulmonary hemodynamic situation (Hb, SAsat%, Qp/Qs, PAP, Rp/Rs, EDVP, FS%, ventricular diastolic compliance (VC = EDVP/Qpi + Qsi) as well as the pulmonary artery size and area using standard (Nakata-index, McGoon-ratio) and a self designed computer assisted planimetric area calculation (PPAAI; cm2/m2 b.s.a.) analysed. Each patient underwent 1-3 shunt procedures, the mean shunt patency period for groups A, B, C and D was 12, 8.6, 5.3, and 4.5 years, respectively. The mean Nakata-index (283, 297, 324, 405 in groups A-D) and the McGoon-ratio (2.0, 2.2, 2.8, 3.3 in groups A-D) correlated with the Qp index, reflecting flow dependent development of pulmonary artery bed. No correlation was found between Qpi and PPAAI (47, 40, 41 and 47 in group A-D). The VC/Qp relation showed an inversely proportional pattern with values 2.3, 1.0, 0.8, 0.7 for corresponding groups A-D, the lowest VC in group A correlated with polyglobulic status (Hb- values; g/dl): 21.3 in A vs 19.8, 18.0 and 16.5 in B-D) and mean arterial SAsat-values (77% in A vs 83%, 84% and 89% in B-D). In conclusion, in our highly selected patient cohort, the development of p.a. size was strongly flow-dependent, and patients with restrictive pulmonary flow needed an approximately threefold longer time period to normalize their p.a. size compared to those with excessive flow. In patients with restrictive pulmonary flow, the Nakata-index underestimated the degree of development of the pulmonary artery system, probably due to the distortion of the proximal p.a. segment. In consequence, in these patients the normalization of the p.a. bed and thus suitability for the Fontan procedure probably occurred much earlier. Based on our observations and those of others, in patients with excessive flow the normalization of p.a. bed, provided it occurs within 3-4 years, seems not necessarily to be associated with a deterioration of ventricular function.