Pulmonary Atresia With Ventricular Septal Defect Research Articles

The prenatal diagnosis classification and prognostic evaluation in fetal pulmonary atresia with ventricular septal defect

Objective To explore the prenatal diagnosis classification and prognostic evaluation of fetal pulmonary atresia with ventricular septal defect (PA/VSD). Methods Thirty-one fetal pulmonary atresia with ventricular septal defect were classified Ⅰ-Ⅳ type by Boston classification, and the McGoon indexes were calculated, whether associated with malformation and chromosomal abnormalities, and follow-up. Results Thirteen fetuses were diagnosed type Ⅰ PA/VSD, 6 fetuses were associated with malformation, 2 fetuses were chromosomal abnormalities, 7 fetuses′ McGoon index>1.20, 6 fetuses′ McGoon index 1.20, 5 fetuses′ McGoon index<1.20, 2 cases had operation (1 case had radical operation and had a good follow up, 1 case had palliative operation and was waiting for radical operation), 4 fetuses received termination of pregnancy. Four fetuses were diagnosed as type Ⅲ PA/VSD, 3 fetuses were associated with malformation, no fetus was chromosomal abnormalities, 4 fetuses′ McGoon index<1.20, 1 case had palliative operation and was waiting for radical operation, 3 cases received termination of pregnancy. Eight fetuses were diagnosed as type Ⅳ PA/VSD, 3 fetuses were associated with malformation, 3 fetuses were chromosomal abnormalities, 1 case had unifocalization operation, but died after operation in one day, 7 cases received termination of pregnancy. The area under the ROC curve of McGoon index in hinting PA/VSD postnatal radical operation was 1.000(P=0.002, 95%CI: 1.0000-1.000), the border value was 1.255, the sensitivity and specificity were 100%, 85.7%, respectively. Conclusions Echocardiography can diagnose the classification of fetal PA/VSD. The radical operation for cases of McGoon index>1.255 is feasible, the cases of type Ⅳ PA/VSD and PA/VSD with associated malformation and chromosomal abnormalities have a poor follow up. Key words: Echocardiography, prenatal; Pulmonary atresia with ventricular septal defect; Prognosis; McGoon index

Fetal pulmonary atresia with ventricular septal defect: echocardiographic findings, associated anomalies and chromosomal characteristics

Objective To analyze the echocardiographic findings, associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect (PA/VSD). Methods The echocardiographic data and follow-up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to March 2018 in the consultation center of fetal heart disease in maternal-fetal medicine in Anzhen hospital. Of all the fetuses, 59 cases (0.19%) had PA/VSD. The echocardiographic findings, associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD. Based on whether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries (MAPCAs) or not, the PA-VSD was classified into type A, type B, and type C. Results A large ventricular defect was demonstrated in five-chamber view with 61.7% of the mean ratio of the aortic overriding. Other fetal echocardiographic features of all the 59 fetuses with PA/VSD included: the right aortic arch (n=19), reversal flow in the ductus arteriosus (n=40), MAPCAs (n=24). The classification of the PA/VSD included: type A (n=35), type B (n=5) and type C (n=19). Associated anomalies: persistent left superior vena cava (n=13), anomalous pulmonary vein connection (n=5), complete atrioventricular septal defect (n=5); single umbilical artery (n=3), right atrial isomerism (n=3). Of all the 30 cases performed chromosomal test, 3 cases had aneuploidy and 7 cases had microdeletion of chromosome. Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic. For prenatal diagnosis of PA/VSD, the type of PA/VSD should be defined and chromosomal test should be performed, which can be helpful for prenatal consulting. Key words: Echocardiography; Heart septal defect, ventricular; Pulmonary atresia; Prenatal diagnosis; Chromosomal aberrations

Rare Copy Number Variations Might Not be Involved in the Molecular Pathogenesis of PA-IVS in an Unselected Chinese Cohort.

Congenital heart defect (CHD) is one of the most common birth defects in China, while pulmonary atresia with intact ventricular septum (PA-IVS) is the life-threatening form of CHD. Numerous previous studies revealed that rare copy number variants (CNVs) play important roles in CHD, but little is known about the prevalence and role of rare CNVs in PA-IVS. In this study, we conducted a genome-wide scanning of rare CNVs in an unselected cohort consisted of 54 Chinese patients with PA-IVS and 20 patients with pulmonary atresia with ventricular septal defect (PA-VSD). CNVs were identified in 6/20 PA-VSD patients (30%), and three of these CNVs (15%) were considered potentially pathogenic. Two pathogenic CNVs occurred at a known CHD locus (22q11.2) and one likely pathogenic deletion located at 13q12.12. However, no rare CNVs were detected in patients with PA-IVS. Potentially pathogenic CNVs were more enriched in PA-VSD patients than in PA-IVS patients (p = 0.018). No rare CNVs were detected in patients with PA-IVS in our study. PA/IVS might be different from PA/VSD in terms of genetics as well as anatomy.

Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect.

Copy number variants (CNVs) are major variations contributing to the gene heterogeneity of congenital heart diseases (CHD). pulmonary atresia with ventricular septal defect (PA-VSD) is a rare form of cyanotic CHD characterized by complex manifestations and the genetic determinants underlying PA-VSD are still largely unknown. We investigated rare CNVs in a recruited cohort of 100 unrelated patients with PA-VSD, PA-IVS, or TOF and a population-matched control cohort of 100 healthy children using whole-exome sequencing. Comparing rare CNVs in PA-VSD cases and that in PA-IVS or TOF positive controls, we observed twenty-two rare CNVs only in PA-VSD, five rare CNVs only in PA-VSD and TOF as well as thirteen rare CNVs only in PA-VSD and PA-IVS. Six of these CNVs were considered pathogenic or potentially pathogenic to PA-VSD: 16p11.2 del (PPP4C and TBX6), 5q35.3 del (FLT4), 5p13.1 del (RICTOR), 6p21.33 dup (TNXB), 7p15.2 del (HNRNPA2B1), and 19p13.3 dup (FGF22). The gene networks showed that four putative candidate genes for PA-VSD, PPP4C, FLT4, RICTOR, and FGF22 had strong interaction with well-known cardiac genes relevant to heart or blood vessel development. Meanwhile, the analysis of transcriptome array revealed that PPP4C and RICTOR were also significantly expressed in human embryonic heart. In conclusion, three rare novel CNVs were identified only in PA-VSD: 16p11.2 del (PPP4C), 5q35.3 del (FLT4) and 5p13.1 del (RICTOR), implicating novel candidate genes of interest for PA-VSD. Our study provided new insights into understanding for the pathogenesis of PA-VSD and helped elucidate critical genes for PA-VSD.

Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect.

To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD). All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers. 50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319). The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.

EP10.25: A specific prenatal 2D sonographic feature of truncus arteriosus and pulmonary atresia with ventricular septal defect: the Chinese vase sign

We wanted to share two cases which heart anomaly was found by a single great artery in left ventricular outflow tract (LVOT) at the beginning. One was terminated at 21 weeks 6 days gestational age with final diagnosis of persistent truncus arteriosus (PTA). The other was delivered by Caesarean section at 38 weeks gestational age with final diagnosis of pulmonary atresia with ventricular septal defect (PA-VSD) and tricuspid atresia. The heart anomaly of both cases was revealed by a single great artery in LVOT. According to heart embryology, PTA is thought to result from incomplete or failed septation of the embryonic truncus arteriosus. PA is happened when pulmonary valve did not form at all, and no blood can go from the right ventricle of the heart out to the lungs. Both PTA and PA-VSD are characterised by a single great vessel emanating from the heart. The embryonic truncus arteriosus and the relatively larger diameter of aorta in PA-VSD present a single great artery in LVOT. We proposed the term “Chinese vase sign” for indentifying a single great artery in LVOT, which suggested the abnormality of artery trunks despite deceivingly normal four chamber views. Further differential diagnostic procedure between persistent truncus arteriosus and pulmonary atresia with ventricular septal defect was needed after detecting a single great artery in left ventricular outflow tract because both PTA and PA-VSD may result in cyanotic baby which need surgical intervention after birth. Supporting information can be found in the online version of this abstract Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect.

To determine the early, intermediate and long-term outcomes of pulmonary atresia with ventricular septal defect (PA/VSD) Types I, II and III initially palliated by a right ventricle to pulmonary artery (RVPA) connection. We performed a retrospective study from 2000 to 2014 that included 109 patients with PA/VSD who had undergone an RVPA connection (tetralogy of Fallot and PA/VSD Type IV excluded). The end-points of this strategy were adequate pulmonary artery tree post-palliation, second palliation, biventricular repair, right ventricular pressure post-biventricular repair and late reoperation. Mean follow-up was 5.4 years (1 day to 14-78 years). Early mortality after an RVPA connection was 2.7% (3 of 109). The interstage mortality rate was 6.6% (7 of 106). Eighty-four (77%) patients had a biventricular repair and 8 patients (7%) are awaiting repair. Overall survival was 90% at 1 year and 81% at 10 years. The RVPA connection allowed significant growth of the native pulmonary artery with a Nakata index of 101 mm2/m2 before the RVPA connection and 274 mm2/m2 after (P = 0.001). Twenty-nine reinterventions for restrictive pulmonary blood flow have been done (9 before 2 months and 20 after 2 months). Of the 84 patients who had a repair, 22 patients (26%) initially had a right ventricular pressure greater than 40 mmHg. Twenty-eight patients (33%) required late reoperation. Hospital deaths after the RVPA connection were low. The procedure allowed good growth of the native pulmonary artery. Biventricular repair was possible in a large number of cases. The late morbidity rate remains significant. Early reinterventions could be avoided by appropriate calibration. This technique appears to be suitable for any type of PA/VSD with central pulmonary arteries.

Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect

Major aortopulmonary collateral arteries (MAPCAs) are frequently found in association with pulmonary atresia with ventricular septal defect (PA/VSD). However, some patients with MAPCAs do not have PA/VSD but have a variety of other "atypical" anatomic diagnoses. This was a retrospective review of patients with MAPCAs and atypical anatomy. The 50 patients with MAPCAs could be divided into two subgroups: (1) single ventricle anatomy (n= 33) and (2) two ventricle anatomy (n= 17). The 33 patients with MAPCAs and single ventricle included 15 with unbalanced complete atrioventricular canal (CAVC), 6 with pulmonary atresia-intact ventricular septum, and 12 with other forms of single ventricle. The initial cardiac operation included unifocalization/shunt in 24 patients and creation of aortopulmonary window or central shunt in 9 patients. There were seven operative and eight late deaths. Sixteen patients have had a bidirectional Glenn procedure and6 had a Fontan procedure. The 17 patients with MAPCAs and two ventricles included 5 with CAVC, 4 with corrected transposition, 3 with double outlet right ventricle, 3 with scimitar syndrome, and 2 with complex D-transposition. The initial cardiac operation included single-stage complete repair in 5 patients, unifocalization/shunt in 10 patients, and aortopulmonary window in 2 patients. There were two operative and two late deaths. Thirteen patients have achieved complete repair status. The data demonstrate the wide diversity of anatomy seen in patients with MAPCAs when evaluating diagnoses other than PA/VSD. Two-thirds of the patients had single ventricle and was associated with a relatively high mortality.

P21 Multi-modality imaging of the pulmonary blood supply in infants with pulmonary atresia with ventricular septal defect: Accuracy, cumulative radiation dose and anaesthetic time

Aims In newborns with pulmonary atresia with ventricular septal defect (PA/VSD), the pulmonary arteries (PAs) may be either hypoplastic or absent, with or without highly variable aortopulmonary collaterals. Comprehensive imaging of the native pulmonary blood supply is important to inform initial management. We sought to describe the accuracy, cumulative radiation dose and anaesthetic time associated with multi-modality imaging in newly diagnosed patients with PA/VSD prior to their first intervention. Methods The records of all patients diagnosed with PA/VSD between 2004 and 2014 were reviewed retrospectively, excluding all patients over 100 days old at the time of diagnosis. We determined the accuracy and benefits (if any) of serial investigations up to the time of the first intervention, comparing the results to the anatomical findings at operation. We then calculated the cumulative radiation dose and anaesthetic time per patient. Results 30 patients were identified, of which 13 were excluded (7 had no further imaging and 6 were >100 days old at diagnosis). In total, there were 13 catheters and 4 CT scans performed in the whole group before intervention. All were within 100 days of life. Aside from one patient with 2 MRI scans, no investigation was repeated. Echocardiography correctly identified PAs in 12/17 patients (71%), MRI in 9/13 patients (69%), CT in 1/4 patients (25%), and in all patients who underwent catheterisation (13/13, 100%). In the 4 patients who underwent cross-sectional imaging only (3 MRI, 1 CT), PAs were also correctly identified. The mean radiation dose during catheterisation was 119mGy*cm2 (47–231mGy*cm2), and for CT was 92mGy*cm2 (66–123mGy*cm2). 3 patients underwent both catheterisation and CT, with a mean cumulative dose of 297mGy*cm2 (191–461mGy*cm2). 3 underwent MRI only with no ionising radiation. The mean total anaesthetic time before intervention was 111 min (33–185 min). In the one child who had CT only, no anaesthetic was used. The mean age of those undergoing primary catheterisation was 3 days (1 – 6 days, n = 3). In those undergoing primary MRI or CT, the mean age at subsequent catheterisation was 35 days (8–86 days, n = 10, P = 00.09); however, there was no difference in the mean radiation dose or anaesthetic time of these procedures. Over the ten year period of our study, the maximum cumulative radiation dose in a single patient was 8022mGy/cm2 at the age of 6 years (via 5 catheters), and 1263 min of anaesthetic time at 5 years (via 5 catheters, 1 CT and 4 MRIs). Conclusions Echocardiography may not identify native PAs in all neonates and infants with PA/VSD. Catheterisation is highly accurate, but also carries the highest risk. Cross-sectional imaging alone may be appropriate in some cases; in others, it may allow for delayed catheterisation, but may not reduce the radiation dose or anaesthetic time. The cumulative effects of repeated diagnostic and interventional procedures can lead to large radiation doses and anaesthetic times, both before and after primary intervention. These risks are an important consideration when planning management in this complex patient group.

Ventricular Septal Defect with Overriding Great Artery, Differential Diagnosis, Case Presentation, and Review of Literature

Abstract Embryologically, conotruncal abnormalities result from abnormal development of the conotruncal septum expressing variably as double outlet right ventricle, tetralogy of Fallot, absent pulmonary valve syndrome, complete transposition, corrected transposition, and pulmonary atresia with ventricular septal defect (PA-VSD). It is not very uncommon to see a VSD with one single large artery overriding the defect, along with nonvisualization of the right ventricular outflow tract and ventricular origin of the Pulmonary artery. In situations with above findings and a near normal four chamber heart view the differential diagnosis include common arterial trunk (CAT), and pulmonary atresia with VSD and rare disorders like aortic atresia. CAT is characterized by a single great artery supplying the coronary, cranial and pulmonary circulation. Similar findings in PA-VSD may create confusion in prenatal diagnosis of these two conditions, more so in CAT type II/III. The diagnosis of CAT type I is comparatively easy as the pulmonary artery arises immediately beyond the origin of the trunk. This article discusses a case, the approach to and differential diagnosis of a single great artery overriding a VSD with a near normal four chamber view. The role of cardiac screening during the early morphology scan and the role of 4D imaging with color and power Doppler angiography are also highlighted for the correct diagnosis and description of spatial relationships of the vessels and chambers. Correct prenatal diagnosis of these conditions is important for patient counseling and prognostication.

Complete Preoperative Evaluation of Pulmonary Atresia with Ventricular Septal Defect with Multi-Detector Computed Tomography

ObjectiveTo compare multi-detector computed tomography (MDCT) with cardiac catheterization and transthoracic echocardiography (TTE) in comprehensive evaluation of the global cardiovascular anatomy in patients with pulmonary atresia with ventricular septal defect (PA-VSD).MethodsThe clinical and imaging data of 116 patients with PA-VSD confirmed by surgery were reviewed. Using findings at surgery as the reference standard, data from MDCT, TTE and catheterization were reviewed for assessment of native pulmonary vasculature and intracardiac defects.ResultsMDCT was more accurate than catheterization and TTE in identification of native pulmonary arteries. MDCT is also the most accurate test for delineation of the major aortopulmonary collateral arteries. The inter-modality agreement for evaluation of overriding aorta and VSD were both excellent. In the subgroup with surgical correlation, excellent agreement was found between TTE and surgery, and substantial agreement was also found at MDCT.ConclusionMDCT can correctly delineate the native pulmonary vasculatures and intracardiac defects and may be a reliable method for noninvasive assessment of global cardiovascular abnormalities in patients with PA-VSD.

乳児期後期Rastelli型手術における16 mm自作3弁付きePTFE導管の中期遠隔成績

Background: In small children, conduits for right ventricular out ow tract reconstruction are limited because of patient size and conduit resources, particularly in Japan. Methods: Since 2007, we have performed the Rastelli-type procedure using 16-mm hand-made trilea et expanded polytetra uoroethylene (ePTFE) conduits in nine approximately 1-year-old children. e median age and body weight at surgery was 17.3 months (range: 10~22 months) and 8.9 kg (range: 6.8~11 kg), respectively. e patient diagnoses were double-outlet right ventricle (DORV) with pulmonary stenosis (PS) in four, pulmonary atresia with ventricular septal defect (PA/VSD) and major aortopulmonary collateral arteries (MAPCA) in four, and PA/VSD in one patient. All patients had undergone previous surgical procedures, including modi ed Blalock shunt in ve and unifocalization of MAPCA and modi ed Blalock shunt in four patients. Conduit function, re-intervention, and right ventricular function were retrospectively investigated. Results: ere was no early or late mortality. During the median follow-up of 45 months (range: 18~79 months), balloon dilation for conduit stenosis was performed in two patients at 47 and 51 months post surgery, respectively. One of these patients required conduit replacement 27 months a er balloon dilation. Excluding this patient, the most recent echocardiographic pressure gradients of the conduits were 0~20 mmHg in four, 21~40 mmHg in four, and no patient had conduit stenosis with the pressure gradients over 41 mmHg. Conduit regurgitation was trivial in four, mild in two, and moderate in two patients. Conclusion: e Rastelli-type procedure using 16-mm hand-made trilea et ePTFE conduits in approximately 1-year-old infants showed acceptable mid-term results. Conduit stenosis gradually developed over 5~6 years. Balloon dilation for conduit stenosis has the potential to delay conduit replacement without increasing conduit regurgitation.

Pulmonary Atresia and Ventricular Septal Defect in a Thirty-Six Year Old Woman

Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare form of congenital heart disease. The blood supply to the pulmonary arteries is provided by a patent arterial duct or by major aorto-pulmonary collateral arteries (MAPCAs). Here we present a thirty six years old Syrian war victim who was referred to our clinic with complaints of dyspnea on exertion and syncope. When questioned she admitted that she was having these complaints since her childhood and had a disease that she was offered cardiac catheterization and operation which she refused. Echocardiographic and computed tomography angiography findings revelaed pulmonary atresia with ventricular septal defect and aortopulmonary collateral arteries provided the blood flow to pulmonary arteries. Most patients without surgery do not live more than three decades. The presented case is one of those surviving more than three decades without surgery.

Establishment of right ventricle-pulmonary artery continuity as the first-stage palliation in older infants with pulmonary atresia with ventricular septal defect may be preferable to use of an arterial shunt

Right ventricle-pulmonary artery (RV-PA) conduit and systemic-to-pulmonary artery (S-PA) shunt in younger infants for the first-stage palliation with pulmonary atresia with ventricular septal defect (PAVSD) obtained good results. However, the pulmonary arteries (PA) grow slow in older infants undergoing an S-PA shunt. We compared the clinical outcomes of the two procedures in older infants with PAVSD. A total of 48 patients with PAVSD underwent the first-stage palliative procedure between January 2010 and July 2012. Patients were divided into the RV-PA group and the S-PA group based on whether they had an RV-PA conduit (n = 24) or an S-PA shunt (n = 24). The early and late outcomes were compared between groups. There was no significant difference in in-hospital mortality, mechanical ventilation time, paediatric intensive care unit stay and hospital stay between groups (all P > 0.05). The RV-PA conduits were associated with better PA growth compared with the S-PA shunts (P < 0.001). The RV-PA group had a higher rate of second-stage biventricular surgery compared with the S-PA group (P = 0.03). The early outcomes among different conduits of the RV-PA conduit were not different (all P > 0.05). A positive correlation was found between the size of conduits and body weight (R(2) = 0.684, P < 0.001). In older infants with PAVSD who underwent the first-stage palliative procedure, early outcomes showed no difference between the RV-PA conduit group and the S-PA shunt group. The RV-PA conduits were associated with better growth of the PA and higher rates of second-stage biventricular repair. Autologous pericardium is a good choice for RV-PA conduits, and there is a correlation between body weight and size of conduit.

A Rare Case of Pulmonary Atresia with Ventricular Septal Defect with a Right Sided Aortic Arch and a Calcified Pulmonary AVM Presenting in an Adult without Cyanosis.

Pulmonary atresia with ventricular septal defect (PA-VSD) with pulmonary arterial supply arising from the aorta representing large MAPCAs associated with a right sided aortic arch is an uncommon anomaly. Most of the patients succumb to severe respiratory compromise or congestive cardiac failure very early. We report the clinical details and imaging findings of a case of PA-VSD with a right sided aortic arch and a calcified pulmonary arteriovenous malformation (AVM) in a 21-year-old postpartum female with no previous episodes of cyanosis who was diagnosed as having a cardiac anomaly on echocardiography when she presented with breathlessness during the 8th month of the pregnancy.

Isolated Cleft Mitral Valve With Severe Regurgitation Resulting in a Left Inferior Pulmonary Vein Varix Diagnosed From Cardiovascular Magnetic Resonance Imaging

Isolated cleft mitral valve (ICMV) is a rare entity not known to be related to pulmonary atresia with ventricular septal defect (PA-VSD). This report describes the use of cardiovascular magnetic resonance (CMR) imaging to diagnose ICMV in a patient with repaired PA-VSD who presented with incidental severe mitral regurgitation (MR) on follow-up echocardiography. An associated pulmonary varix secondary to the severe MR also was shown by CMR.

Late Outcomes in Patients Undergoing Aortopulmonary Window for Pulmonary Atresia/Stenosis and Major Aortopulmonary Collaterals

Pulmonary atresia with ventricular septal defect (PA/VSD) and major aortopulmonary collateral arteries (MAPCAs) is a complex form of congenital heart defect. One identifiable subset has small (<2.5 mm) intrapericardial branch pulmonary arteries that are (1) confluent, (2) have normal arborization, and (3) have dual-supplied collateral vessels. When this anatomy is associated with limited pulmonary blood flow, the patients are candidates for creation of an aortopulmonary window to stimulate growth of the pulmonary arteries. The purpose of this study was to review our experience with creation of an aortopulmonary window as the initial palliative procedure. This was a retrospective review of our surgical experience with 35 children undergoing aortopulmonary window creation from 2002 to 2011. Patients were identified by preoperative cardiac catheterization to define the cardiac and pulmonary artery anatomy. There was no mortality in 35 patients undergoing aortopulmonary window creation. These patients have subsequently undergone 78 cardiac procedures (with 2 operative mortalities). Eighteen of these patients have achieved complete repair, 4 patients in a second procedure, 6 patients in a third procedure, 5 patients in a fourth procedure, and 3 patients in a fifth procedure. The data demonstrate that patients can undergo creation of an aortopulmonary window with excellent early results. Few patients were amenable to complete repair at the second operation, and most required multiple reoperations to recruit sufficient arborization. We interpret these counterintuitive results to suggest that hypoplastic central pulmonary arteries and diminished pulmonary blood flow are markers for a less well developed pulmonary vascular bed.

Surgical outcomes for patients with pulmonary atresia/major aortopulmonary collaterals and Alagille syndrome

Pulmonary atresia with major aortopulmonary collateral arteries (PA/MAPCAs) is a complex congenital heart defect that has undergone significant advances in treatment over the past 15 years. A small subset of patients with PA/MAPCAs have associated Alagille syndrome, which can have an adverse impact on many other organ systems. The purpose of this study was to review our institutional outcomes for the surgical patients with PA/MAPCAs and Alagille syndrome. This was a retrospective review of patients with PA/MAPCA's and Alagille who underwent surgical reconstruction from November 2001 to August 2011. Fifteen patients were identified in our data base. Thirteen had pulmonary atresia with ventricular septal defect (PA/VSD) and two had pulmonary atresia with intact ventricular septum (PA-IVS). There has been no early or late mortality in this cohort of 15 patients with PA/MAPCA' and Alagille syndrome. The patients have undergone a total of 38 cardiac surgical procedures. Ten of the 13 patients with PA/VSD have achieved complete repair, including unifocalization, a right ventricle to pulmonary artery conduit and closure of all intra-cardiac shunts. The three unrepaired patients with PA/VSD remain potential candidates for eventual complete repair, while the two patients with PA-IVS remain viable candidates for a single ventricle pathway. The patients in this series have also undergone 12 major non-cardiac procedures. The data demonstrate that surgical reconstruction of PA/MAPCAs can be successfully achieved in patients with Alagille syndrome. The longer-term prognosis remains guarded on the basis of the multi-organ system involvement of Alagille syndrome.

Coronary Artery-to-Pulmonary Artery Fistula in a Case of Pulmonary Atresia With Ventricular Septal Defect

Pulmonary atresia with ventricular septal defect (PA-VSD) can be associated with varying pulmonary artery connections. The origin of pulmonary blood flow can vary greatly among patients, and some case reports have described the presence of left coronary artery-to-pulmonary artery fistula. Two cases of patients found to have coronary artery-to-pulmonary artery fistula in the settings of PA-VSD are reported.

Staged surgical treatment of pulmonary atresia with ventricular septa] defect

To determine the choice of palliative procedures, timing and techniques of second-stage operations. Between April 2004 to July 2008, 50 consecutive patients with pulmonary atresia with ventricular septal defect (PA/VSD) underwent two-stage operation. Palliative procedures included modified Blalock-Taussig shunt (n = 5), central shunt (n = 2), pericardial patch enlargement (n = 10), pericardial tube (n = 4) and Gore-Tex conduit (n = 29). The interval period was 7 - 49 months (20.0 +/- 10.0 months). In the second stage, a surgical shunt was interrupted in 7 cases. Ventricular septal defect was closed in all patients, but fenestrated ventricular septal defect patch was used in 6 cases. Right ventricular outlet tract (RVOT) was widened with pericardial patch in 42 cases and conduit exchange in 8 cases. Aortopulmonary collateral arteries (MAPCASs) unifocalization (n = 1), ligation or transcatheter occlusion with embolization coils (n = 4) and maintaining open or untreated (n = 4). Death occurred in 2 and the mortality rate was 4%. Postoperative complications included residual shunt (n = 3), residual obstruction (n = 3), complete AV block (n = 1), athetosis (n = 1) and acute renal failure (n = 3). Neither death nor complication was reported during a follow-up period of 3 months to 4 years. A palliative procedure should be individualized to the patient's morphology of central pulmonary artery and clinical status of a patient. Right ventricular outlet tract reconstruction, pulmonary arterioplasty, fenestration of VSD patch in baby with suprasystemic right ventricular pressure and appropriate interventions with MAPCASs are key to decrease the mortality and morbidity of staged operations for PA/VSD.