Outcomes of patients with exomphalos and associated congenital heart diseases.

INTRODUCTION: Exomphalos is an anterior abdominal wall defect resulting in herniation of contents into the umbilical cord. Severe associated chromosomal anomalies and congenital heart disease (CHD) are known to influence mortality, but it is not clear which cardiac anomalies have the greatest impact on survival. METHODS: We performed a retrospective review of the treatment and outcome of patients with exomphalos over a 30-year period (1990-2020), with a focus on those with the combination of exomphalos major and major CHD (EMCHD). RESULTS: There were 123 patients with exomphalos identified, 59 (48%) had exomphalos major (ExoMaj) (defect > 5 cm or containing liver), and 64 (52%) exomphalos minor (ExoMin). In the ExoMaj group; 17% had major CHD (10/59), M:F 28:31, 29% premature (< 37 weeks, 17/59) and 14% had low birth-weight (< 2.5 kg, 8/59). In the ExoMin group; 9% had major CHD (6/64), M:F 42:22, 18% premature and 10% had low birth-weight. The 5-year survival was 20% in the EMCHD group versus 90% in the ExoMaj with minor or no CHD [p < 0.0001]. Deaths in the EMCHD had mainly right heart anomalies and all of them required mechanical ventilation (MV) for pulmonary hypoplasia prior to cardiac intervention. In contrast, survivors did not require mechanical ventilation prior to cardiac intervention. CONCLUSION: EMCHD is associated with high mortality. The most significant finding was high mortality in those with right heart anomalies in combination with pulmonary hypoplasia, especially if pre-intervention mechanical ventilation is required.

Chylopericardium in a child with impaired venous access following small bowel transplantation.

A 10-yr-old child with impaired venous access (bilateral occlusion of internal jugular veins, subclavian veins, and inominate veins) underwent an isolated small bowel transplant. He presented with lethargy, shortness of breath 13 months into his follow-up and was diagnosed to have chylopericardium. MR venography and lymphangiography could not demonstrate the site of lymphatic leak. His chyloperciardium was treated with pericardiocentesis and MCT diet. The most likely cause for the chylopericardium was venous occlusion of the subclavian veins with backpressure resulting in a lymphatic leak. A brief review of literature along with treatment options is discussed.

Clinical evaluation of the new Amplatzer duct occluder II for patent arterial duct occlusion.

BACKGROUND: Several devices such as coils and Amplatzer duct occluder (ADO) are used for catheter closure of patent arterial ducts (PDA). These carry a high success rate but residual shunts, suboptimal device orientation, and technical problems are encountered. The Amplatzer duct occluder II (ADO II) is designed to address these limitations. OBJECTIVES: To evaluate the technical features of the new ADO II device for PDA closure and document the immediate/early closure rate, complications and device behavior during implantation. METHODS: Prospective, two center study from February 2008 to January 2009. Twenty-seven patients (18 females) received the ADO II. The median age was 22 months (range: 7 months-68 years) and the median weight was 11.7 kg (range: 6.9-108). The median PDA diameter was 2.6 mm (range: 1-4.4). The approach was arterial in 13 and venous in 14 patients. Follow-up included echocardiography at 1 day and 1 month postimplantation. RESULTS: All implantations were technically successful with immediate complete angiographic closure in 21 and trivial contrast flow in six patients. The median procedure time was 43 min (range: 15-82) and the fluoroscopy time was 6 min (range: 2.2-26.5). Echocardiography confirmed no residual shunts on the following day. There were no complications. CONCLUSION: The new ADO II is a versatile and very effective device for closure of PDAs of various shapes, lengths, and up to diameters of 5.5 mm. The disc articulations, high early closure rate, arterial or venous approach options, and small diameter delivery catheter are all beneficial features.

Cardiomyopathy in tyrosinaemia type I is common but usually benign.

UNLABELLED: Tyrosinaemia type I (TTI) is an inherited multisystemic disorder of tyrosine metabolism. In addition to hepatic and renal involvement, cardiomyopathy is an important clinical manifestation. OBJECTIVE: To evaluate the incidence and outcome of cardiomyopathy in TTI. SUBJECTS AND METHODS: A retrospective study was performed of 20 consecutive children with TTI (12 male, 8 female) referred to a single centre between 1986 and 2002. All were initially treated with standard dietary therapy and, since 1992, with nitisinone. The indications for orthotopic liver transplantation (LT) changed during the study. Serial echocardiography was undertaken in all subjects. RESULTS: 9/20 (45%) children had an acute hepatic presentation. Five (25%) received dietary treatment followed by LT, and 14 (70%) were treated with nitisinone at presentation. 6/20 (30%) had cardiomyopathy at initial assessment, with interventricular septal hypertrophy being the commonest finding (5/6). Cardiomyopathy was significantly less common in those treated initially with nitisinone. After a median follow-up of 3.6 (0.45-13.5) years, 5/6 (83%) had complete resolution of cardiomyopathy and 1/6 showed significant improvement. No child with a normal initial echocardiography subsequently developed cardiomyopathy. CONCLUSION: Cardiomyopathy is a common manifestation of TTI and it has a favourable long-term outcome. Children initially treated with nitisinone are less likely to develop this complication.

Staged surgical management of hypoplastic left heart syndrome: a single institution 12 year experience.

OBJECTIVE: To describe a 12 year experience with staged surgical management of the hypoplastic left heart syndrome (HLHS) and to identify the factors that influenced outcome. METHODS: Between December 1992 and June 2004, 333 patients with HLHS underwent a Norwood procedure (median age 4 days, range 0-217 days). Subsequently 203 patients underwent a bidirectional Glenn procedure (stage II) and 81 patients underwent a modified Fontan procedure (stage III). Follow up was complete (median interval 3.7 years, range 32 days to 11.3 years). RESULTS: Early mortality after the Norwood procedure was 29% (n = 95); this decreased from 46% (first year) to 16% (last year; p < 0.05). Between stages, 49 patients died, 27 before stage II and 22 between stages II and III. There were one early and three late deaths after stage III. Actuarial survival (SEM) was 58% (3%) at one year and 50% (3%) at five and 10 years. On multivariable analysis, five factors influenced early mortality after the Norwood procedure (p < 0.05). Pulmonary blood flow supplied by a right ventricle to pulmonary artery (RV-PA) conduit, arch reconstruction with pulmonary homograft patch, and increased operative weight improved early mortality. Increased periods of cardiopulmonary bypass and deep hypothermic circulatory arrest increased early mortality. Similar factors also influenced actuarial survival after the Norwood procedure. CONCLUSION: This study identified an improvement in outcome after staged surgical management of HLHS, which was primarily attributable to changes in surgical technique. The RV-PA conduit, in particular, was associated with a notable and independent improvement in early and actuarial survival.

Dual-catheter balloon occlusion aortography in pulmonary atresia with ventricular septal defect and major aorto-pulmonary collaterals.

Angiography remains the gold standard in the preoperative evaluation of complex pulmonary blood supply in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. In neonates, balloon occlusion aortography using a Berman balloon catheter is a very effective technique. However, in older patients this method is frequently limited due to failure to achieve distal balloon occlusion. A novel technique using a balloon valvuloplasty catheter and a standard angiographic catheter in combination is described. The technique allowed enhanced visualization of the complex anatomy in three patients scheduled for surgical intervention.

Usefulness of Blalock-Taussig shunt Doppler flow velocity profiles in the assessment of pulmonary artery pressure and flow.

AIM: To assess the utility of continuous wave Doppler evaluation of velocity profiles across a Blalock-Taussig (BT) shunt in the evaluation of pulmonary artery pressure and pulmonary blood flow. METHODS AND RESULTS: Eleven children with complex congenital heart disease with a BT shunt as the sole source of pulmonary blood supply were studied prospectively (median age 5 (0.3-21) months). Doppler evaluations of shunt flow velocity profile and cardiac catheterization were carried out simultaneously. Pulmonary artery pressure and flow were estimated using the modified Bernoulli equation and velocity time integral of shunt flow. There was a positive correlation between (1) the Doppler estimates for mean pulmonary artery pressure, using the diastolic flow velocity, and the mean pulmonary venous wedge pressure ( r = 0.93, SEE = 1.0 mmHG; P<0.001 ) and (2) the Doppler derived and calculated pulmonary blood flow ( r = 0.9, SEE = 0.19 l/min; P<0.001). In contrast, the Doppler estimates for mean pulmonary artery pressure using the peak or mean Doppler gradients were poor. CONCLUSION: The diastolic BT shunt flow velocity can be used reliably to predict mean pulmonary artery pressure when a BT shunt is the sole source of pulmonary artery flow. There was agreement between Doppler predicted pulmonary blood flow and catheter based calculations. These findings may prove a useful tool for perioperative management.

Modified technique of stent fenestration of the atrial septum.

OBJECTIVES: To develop a modified technique for stenting the atrial septum in the treatment of patients with a failing Fontan operation or pulmonary hypertension. SETTING: Two tertiary referral centres. STUDY DESIGN: Prospective collaborative clinical study. PATIENTS AND METHODS: A stent was mounted on a standard valvoplasty balloon catheter which was constricted to a predefined diameter by a loop created from a temporary pacing wire. Full balloon inflation created a diabolo shaped stent configuration. The technique was employed in 12 consecutive patients to relieve symptoms of a failing Fontan circulation (n = 6) or severe pulmonary hypertension (n = 6). RESULTS: Ex vivo studies confirmed that a diabolo shaped stent configuration could be achieved using the above technique. Transcatheter stent implantation was successful in all 12 patients. All six Fontan patients showed significant clinical improvement. Right atrial pressure decreased from (mean (SD)) 16.8 (2.5) to 13.7 (1.9) mm Hg (p < 0.05), and arterial oxygen saturation from 92.8 (1.8)% to 82.7 (3.8)% (p < 0.01). Six patients underwent successful stent fenestration for treatment of pulmonary hypertension. All stents were patent and stable at the most recent follow up (mean 1.75 (1.05) years). No early or late stent related complications were encountered. CONCLUSIONS: This new technique allows placement of a diabolo shaped stent with a predefined diameter across the atrial septum. The diabolo shape increases stent stability, facilitates recrossing of the stent during future catheter interventions, and ensures medium term stent patency.

Repair of truncus arteriosus: a considered approach to right ventricular outflow tract reconstruction.

OBJECTIVE: In repair of truncus arteriosus the accepted methods of establishing right ventricle (RV) to pulmonary artery (PA) continuity utilize an allograft or xenograft valved conduit. Alternatively, the PA confluence may be directly anastomosed to the RV with anterior patch augmentation, which may allow growth and delay or avoid subsequent RVOT obstruction. These methods of RVOT reconstruction were evaluated in infants undergoing truncus arteriosus repair. METHODS: A retrospective analysis of 61 infants undergoing repair of truncus arteriosus between November 1988 and June 2000 was performed. Median age was 34 days (range 1 day to 6.4 months). The patient cohort was subdivided into two groups (1) Valved conduit group: RV to PA continuity performed with a conduit in 38 patients using allograft (28) or xenograft (10). (2) Direct anastomosis group: direct RV-PA anastomosis performed in 23 patients, augmented anteriorly with monocusp (15) or simple pericardial patch (eight). RESULTS: There were eight hospital deaths (13%, 95% confidence limits 5--21%). Hospital mortality did not differ significantly between group 1 and 2 (three patients (8%) versus five patients (22%) respectively, P=0.23). By multivariate analysis, low operative weight (P=0.023), severe truncal regurgitation (P=0.022) and major coronary abnormalities (P=0.018), were independent risk factors for hospital death. Hospital survivors were followed-up from 1.3 months to 11.8 years (mean 4.2+/-3.4 years). There were eight late deaths with survival of 73+/-6% at 2 years and beyond. Survival was not influenced by method of RVOT reconstruction (Conduit versus direct RV-PA anastomosis, 2.76+/-7%, 63+/-10%, respectively, P=0.23). Freedom from surgical RVOT reintervention was 56+/-10% in group 1 and 89+/-10% in group 2 at 10 years (P=0.023). The use of a xenograft conduit was an independent risk factor for reintervention (P<0.001). CONCLUSIONS: In truncus arteriosus repair, RV to PA continuity established by a direct anastomosis was associated with a low incidence of surgical RVOT re-intervention. This technique has the potential for RVOT growth and may be a useful alternative when an appropriate allograft is unavailable, particularly in the neonate where the risk of pulmonary hypertension are lower.

Early results of right ventricular-pulmonary artery conduits in patients under 1 year of age.

OBJECTIVES: Management strategies for the repair of many complex heart defects require the implantation of a valved conduit between the right ventricle (RV) and the pulmonary artery (PA), often using aortic or pulmonary homograft valves. Their limited availability, however, has led to the development and use of new conduits. We retrospectively compared our experience with small homografts in patients of less than 1 year of age with the TissueMed bioprosthetic valved conduit. METHODS: From March 1994 to November 1997 29 patients in their first year of life underwent conduit implantation for complex heart defects. These were retrospectively reviewed in order to determine the incidence of death or conduit stenosis. Seventeen patients received homografts and 12 TissueMed conduits. RESULTS: Diagnoses and operative details including conduit size were similar in the two groups and in all cases complete repair of the underlying defect was carried out. Early post-operative mortality was 4/17 (23.5%) in the homograft group and 3/12 (25%) in the TissueMed group. Echo Doppler evaluation within 1 month of operation showed no right ventricular outflow tract (RVOT) obstruction in any of the survivors. In the TissueMed group 8/9 (77%) survivors have gone on to develop significant RVOT obstruction within 12 months of operation. There have been three late deaths in this group all related to severe RVOT obstruction. Two patients died during an attempt at balloon dilatation and one patient died of progressive right heart failure. Five patients had successful replacement of the TissueMed conduit. One child remains well with no evidence of RVOT obstruction. At operation to replace conduit, or at autopsy, the stenoses were related to the deposition of fibrous tissue at the anastomotic suture lines. In the homograft group none of the survivors developed RVOT obstruction during the first 12 months post-operatively. There was one late death (non-cardiac in origin) and one child is awaiting conduit replacement 40 months after initial implantation for obstruction. CONCLUSIONS: The homograft is a satisfactory conduit for re-establishment of RV-PA continuity in infancy. Further work needs to be undertaken in order to elucidate the mechanisms of early graft failure in bioprosthetic conduits if these are to be a suitable alternative for RV outflow reconstruction in infants.

Transcatheter coil closure of muscular ventricular septal defects.

We report two patients with small, muscular ventricular septal defects, both of whom had a potential risk of infective endocarditis and underwent transcatheter closure using a detachable Cook coil. We suggest that in selected patients this technique offers a simple and cost-effective alternative to surgery or double-disc device procedures.

Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: a case series.

BACKGROUND: Traditionally, after prenatal diagnosis of hypoplastic left-heart syndrome (HLHS) couples have been offered termination of pregnancy or comfort care. Success of postnatal surgical options such as the Norwood procedure have been associated with survival of up to 60%. Whether survival is affected by the congenital anomaly being identified prenatally or postnatally remains uncertain. METHODS: We reviewed all cases of prenatally diagnosed HLHS referred to the Fetal Medicine Unit at Birmingham Women's Hospital over 6 years between 1994 and 1999. FINDINGS: 87 cases of HLHS were referred at a median gestational age (95% CI) of 23 (19-37) weeks. Of these, 53 (61%) chose prenatal karyotyping. The overall frequency of abnormal karyotype was found in seven of 59 cases (12%) and associated structural anomalies in 18 of 87 (21%). After counselling, 38 of 87 couples (44%) chose termination of pregnancy. Of the remaining 49 fetuses, 11 (23%) were not considered for postnatal surgery because of parental choice and they died after compassionate care. Of the 36 babies who had surgery postnatally, 12 survived (33%). We recorded a survival rate of 38% for the stage-1 Norwood procedure in the prenatally diagnosed HLHS in our centre. These data suggest that at the point of prenatal detection, the overall survival rate for fetuses with HLHS is 25% (if terminated pregnancies are excluded). INTERPRETATION: Fetal echocardiography allows early diagnosis of HLHS and gives clinicians the opportunity to triage this group dependent on prenatal findings, including karyotyping and the exclusion of other structural anomalies. These prospective data provide up-to-date information on the basis of which parents can make decisions.

Balloon angioplasty in infants with aortic obstruction after the modified stage I Norwood procedure.

BACKGROUND: The incidence of coarctation after stage I Norwood procedure varies between 11% and 37%, and it contributes to late death after this operation. We describe the incidence and report the results of percutaneous balloon angioplasty of neoaortic arch obstruction in patients after the modified Norwood procedure for hypoplastic left heart syndrome (HLHS). METHODS: During a period of 5 years, 136 patients (94 male, 42 female) underwent a first stage modified Norwood procedure for HLHS. All 95 survivors (69.8%) underwent cardiac catheterization before the second stage. Neoaortic arch obstruction was diagnosed on documentation of a peak systolic gradient of >10 mm Hg across the arch associated with angiographic evidence of localized narrowing of the aortic lumen. RESULTS: Twenty-one (22.1%) of the 95 survivors were documented to have neoaortic arch obstruction. Seventeen patients underwent percutaneous balloon angioplasty for the relief of the neoaortic arch obstruction. The predilatation peak gradient across the arch was reduced significantly by angioplasty from 28.6 +/- 16.9 mm Hg (range 10 to 73 mm Hg) to 5.3 +/- 5.2 mm Hg (range 0 to 19 mm Hg) (P <.001). A final gradient <10 mm Hg or <70% of the starting gradient was considered a success. CONCLUSION: The absence of serious sequelae after the procedure or need for reintervention, as shown by our study, makes balloon angioplasty an effective technique and the treatment of choice for the relief of recoarctation of the neoaortic arch in patients with staged palliation of HLHS.

Intermittent complete closure of the arterial duct.

Intermittent functional closure of a patent duct has been reported both clinically and echocardiographically. We describe the case of a 6-year-old with intermittent complete closure of a patent duct occurring during attempted transcatheter closure. Recurrence of clinical and echocardiographic signs prompted restudy. A patent duct of moderate size was demonstrated and successfully occluded by coil embolization. The interventional aspects of this unusual condition are discussed.

Total anomalous pulmonary venous connection: outcome of surgical correction and management of recurrent venous obstruction.

OBJECTIVE: Total anomalous pulmonary venous connection (TAPVC) can be corrected with low mortality and good outcome. If complicated by pulmonary vein stenosis (PVS), either at presentation or secondary to the repair, the long-term outcome is compromised. We have evaluated an institutional experience with TAPVC, with particular regard to the evolving management of PVS. METHODS: Retrospective analysis of 85 consecutive patients with non-isomeric TAPVC undergoing surgical correction over a 10-year period (1988-1997). In addition, three patients were referred to us with secondary PVS, having had their primary procedure elsewhere. Attention was focused on incidence of PVS, and strategies for management. RESULTS: Median age at first operation was 33 days (range 1-533). Site of drainage was supracardiac (43/88), infracardiac (20/88), cardiac (17/88), and mixed (8/88). On presentation, 35% of patients were ventilated. Early mortality was 7% (6/85), with one late non-cardiac death. 82% of the original patients (70/85) are currently well at a median follow-up of 64 months (range 6-119). The incidence of PVS requiring intervention was 11% (9/85). Median time to PVS was 41 days. In these patients, 18 balloon angioplasties, four endovascular stent placements (in two patients), and a further 23 surgical procedures were performed. Of the nine patients undergoing re-intervention after initial surgery at our institution, five (56%) survived. Two of these have no residual obstruction and right ventricular pressure (RVP) < 50% systemic, two have unilateral obstruction and RVP < 50% systemic, and one has bilateral obstruction and RVP 80% systemic. Of the three patients referred to us with secondary PVS, two are alive and well, and one died early after the first re-operation. CONCLUSIONS: Intrinsic obstruction (endocardial sclerosis or thickening) is associated with worse prognosis and earlier re-intervention than extrinsic (anatomical) obstruction. We advocate an early, aggressive approach to the management of patients with TAPVC, especially in the presence of PVS. This complication is most appropriately managed by a combination of re-operation and repeated balloon dilation.

The modified Norwood procedure for hypoplastic left heart syndrome: early to intermediate results of 120 patients with particular reference to aortic arch repair.

BACKGROUND: Classic first-stage Norwood repair of hypoplastic left heart syndrome uses a homograft patch enlargement to obtain an unobstructed aorta and coronary arteries. Because of possible disadvantages of the homograft, such as lack of growth, degeneration and calcification, and availability, we have tried to repair the aorta without patch supplementation. METHODS: Between February 1993 and September 1997, 120 patients, aged birth to 47 days (median 4 days) and weighing 1.7 to 4.4 kg (median 3.1 kg), underwent first-stage palliation for hypoplastic left heart syndrome. The diameter of the ascending aorta ranged from 1.5 to 8.0 mm (median 3.0 mm). Eight patients had an aberrant right subclavian artery arising from the descending thoracic aorta. In 95 patients (group I), all duct tissue was excised and the descending aorta was anastomosed to the aortic arch, which had been opened back into the ascending aorta. Then to this confluence was anastomosed the proximal main pulmonary artery. In the remaining 25 patients (group II), continuity of the aortic arch was maintained and the repair was performed with a Damus-Kaye-Stansel anastomosis. The size of the systemic-to-pulmonary shunt was 3 mm in 48 patients, 3.5 mm in 70, and 4.0 mm in 2. RESULTS: Circulatory arrest time ranged from 19 to 105 minutes (median 54 minutes). A homograft patch was necessary for the arch reconstruction in 18 patients (15%); 9 group I patients (10%) and 9 group II (36%) (P =.001). There were 82 hospital survivors (68%); 69 group I patients (73%) and 13 group II (52%) (P =.04), 71 patients without a patch (70%) and 11 with a patch (61%) (P >.2). By multiple logistic regression, the aberrant right subclavian artery was a significant risk factor for hospital death (P =.008). There were 6 late deaths. Sixteen of 71 patients (23%) who underwent second-stage palliation had a neoaortic arch obstruction develop, with a peak gradient greater than 10 mm Hg; 14 group I patients (23%) and 2 group II (22%) ( P >.2), 15 without a patch (23%) and 1 with a patch (17%) (P >.2). Overall survivals were 57% at 1 year and 55% at 2 years. CONCLUSION: The modified Norwood procedure for first-stage palliation of hypoplastic left heart syndrome is possible in the majority of patients without the use of exogenous materials and does not result in an increased incidence of neoaortic arch obstruction. Repair of the aorta without patch supplementation may improve the potential for long-term growth of the new aorta.

Recovery pattern of left ventricular dysfunction following radiofrequency ablation of incessant supraventricular tachycardia in infants and children.

OBJECTIVE: To assess recovery pattern of left ventricular function secondary to incessant tachycardia after radiofrequency ablation in a group of infants and children. DESIGN AND SETTING: A combined prospective and retrospective echocardiographic study carried out in a tertiary paediatric cardiac centre. PATIENTS: Echocardiographic evaluation of left ventricular size and function in nine children with incessant tachycardia, before and after successful radiofrequency ablation. Age at ablation ranged from 2 months to 12.5 years (mean 4.1 years). Recovery of left ventricular function was analysed in relation to age at ablation (group I < 18 months, group II > 18 months). MAIN OUTCOME MEASURE: Ventricular recovery pattern. RESULTS: Seven of the nine children had left ventricular dysfunction; six of these also had left ventricular dilatation. All children with left ventricular dysfunction had normalisation of ejection fraction and fractional shortening; left ventricular dilatation also improved, but the improvement occurred after recovery of function. There was a shorter recovery time for left ventricular function in younger (group I) than in older children (group II) (mean (SD) 5.7 (7.2) months v 31.3 (5.2) (p < 0.002). CONCLUSIONS: Tachycardia induced cardiomyopathy is reversible following curative treatment with radiofrequency. Recovery of left ventricular systolic function precedes recovery of left ventricular dilatation. Time course to recovery is shorter in younger children.