Assessment of Intracardiac and Extracardiac Deformities in Patients with Various Types of Pulmonary Atresia by Dual-Source Computed Tomography

Background:Pulmonary atresia(PA)is a group of heterogeneous complex congenital heart disease.Only one study modality might not get a correct diagnosis.This study aims to investigate the diagnostic power of dualsource computed tomography(DSCT)for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography(TTE).Materials and Methods:This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis.All associated malformations and clinical information,including treatments,were recorded and compared among the three groups.The diagnostic power of DSCT and TTE on all associated malformations were compared.The surgical index(McGoon ratio,pulmonary arterials index(PAI),and total neopulmonary arterial index)and radiation dose were calculated on the basis of DSCT.Results:Of the patients,32,30,and 17 were divided into the groups of PA with ventricular septal defect(VSD),PA with VSD and major aortopulmonary collateral arteries,and PA with other major malformations,respectively.Consequently,182,162,and 13 intracardiac,extracardiac,and other major malformations were diagnosed,respectively.Moreover,DSCT showed a better diagnostic performance in extracardiac deformities(154 vs.117,p<0.001),whereas TTE could diagnose intracardiac deformities better(159 vs.139,p=0.001).The McGoon ratio,PAI,and treatment methods were significantly different among the three groups(p=0.014,p=0.008,and p=0.018,respectively).Conclusion:More than one imaging modality should be used to make a correct diagnosis when clinically suspecting PA.DSCT is superior to TTE in diagnosing extracardiac deformities and could be used to roughly calculate surgical indices to optimize treatment strategy.

Role of Surgery on Growth of Tricuspid Valve in Pulmonary Atresia with Intact Ventricular Septum:Mid-Term Results of Modified Right-Ventricular Overhauling Procedure

Objectives:To access the effectiveness of our modified right-ventricular overhauling procedure on tricuspid valve(TV)growth in patients with pulmonary atresia with intact ventricular septum(PAIVS).Methods:We retrospectively reviewed 21 patients with PAIVS who underwent modified right ventricular overhauling(mRVoh)between 2008 and 2019 at two institutions.Our mRVoh consisted of wide resection of hypertrophied infundibular and trabecular muscle,peeling off fibrotic endocardial tissue in the right ventricle(RV)cavity,surgical pulmonary valvotomy,and Blalock-Taussig shunt or banding of ductus arteriosus under cardiopulmonary bypass.The TV annulus sizes were measured and analyzed using echocardiography before and after mRVoh.Results:No mortalities were observed during a median follow-up of 3 years(interquartile range:1.3–4.7 years)of follow-up were noted.mRVoh was performed at a median age of 163.5 days(range:21–560 days),including seven neonates and two infants(<60 days).During follow-up,the median TV annular z-score increased significantly from−2.24 to−1.15 before and after mRVoh(p=0.004).In ten patients with a prior history of percutaneous interventions for RV outflow tract(RVOT)widening at least 6 months before mRVoh,the TV annular z-score significantly changed during the period after mRVoh(−2.03 to−1.61,p=0.028)compared with the period before mRVoh(−2.51→–2.03,p=0.575)after percutaneous intervention only.Conclusions:mRVoh in PAIVS patients was positively associated with TV annular growth,and it was more effective than percutaneous RVOT widening interventions without mRVoh.

Arrhythmic Risk in Paediatric Patients Undergoing Surgical Repair for Pulmonary Atresia with Intact Ventricular Septum

Introduction:While previous studies only focused on the arrhythmic risk associated with specific correction strategies,this study evaluates this risk in a large cohort of paediatric patients with all phenotypes of PA-IVS after surgical repair.Methods:In this single centre observational cohort study,we retrospectively evaluated 165 patients with a diagnosis of PA-IVS and we excluded those with an exclusively percutaneous treatment,patients lost or with insufficient follow-up and those affected by other arrhythmic syndromes.Surgical history and clinical outcomes were reviewed.Results:86 patients were included in the study(54 male[62.8%],mean age 16.4±6.1 years),with median follow-up from definitive repair of 12.8 years(6.4–18.9 years).They underwent three different final repairs:23 patients(26.7%)univentricular palliation,43(50%)biventricular correction,and 20(23.3%)one and a half ventricle correction.Thirteen patients(15%)developed arrhythmia:6 patients(all the subgroups)sinus node disfunction(SND);2(biventricular repair)premature ventricular complexes;2(one and a half ventricle repair)non-sustained ventricular tachycardia;1(biventricular repair)intra-atrial re-entrant tachycardia;1(one and a half ventricle repair)supraventricular tachyarrhythmia;1(biventricular repair)atrial fibrillation.Three patients with SND needed a pacemaker implantation.Only Fontan circulation showed an association with SND,while the other two groups heterogeneous types of arrhythmias.Conclusions:The low arrhythmic risk is related to surgical repair,it does not appear to be associated with native cardiomyopathy,and it appears to increase with length of follow up.Continuous follow-up in specialized centres is necessary to make an early diagnosis and to manage the potential haemodynamic impact at medium-long term.

Management of ductal spasm in a neonate with pulmonary atresia and an intact ventricular septum during cardiac catheterization:A case report

BACKGROUND Ductal spasm is a rare but life-threatening complication of cardiac catheterization in neonates with pulmonary atresia and an intact ventricular septum.In patients with ductal-dependent pulmonary blood flow,ductal spasm may lead to refractory hypoxemia and severe hemodynamic instability,which need to be treated in perfect order.CASE SUMMARY We present a male infant with a gestational age of 39 wk,and his fetal echocardiography showed pulmonary atresia.At 28 d of age,transcatheter pulmonary valvuloplasty with balloon dilatation was performed.Two hours after the operation,the patient's pulse oxygen saturation continued to decrease.The patient was then transferred to receive cardiac catheterization.During catheterization,the invasive blood pressure and pulse oxygen saturation suddenly decreased,and repeated aortography revealed partial occlusion of the ductus arteriosus.It no longer changed when pulse oxygen saturation rose to 51%after approximately 20 min of maintenance therapy.Therefore,a ductal stent was used for implantation.Hemodynamics and hypoxemia were improved.CONCLUSION We should know that ductal spasm may occur during pulmonary atresia and intact ventricular septum cardiac catheterization.Understand the pathophysiology of ductal-dependent pulmonary blood flow and make comprehensive perioperative preparations essential to deal with hemodynamic disorders caused by ductal spasm.

A Novel Perspective on Histopathology Provides Novel Insights into Surgical Effects in Pulmonary Atresia,Ventricular Septal Defect,and Major Aortopulmonary Collateral Arteries:A Case-Series Study

Background:Never had literatures characterized the relationship between the property of major aortopulmonary collateral arteries(MAPCAs)and outcomes of selective unifocalization of pulmonary atresia with ventricular septal defects and MAPCAs.Methods:This is a case-series study.Thirteen patients were included.Angiographybased assessment was conducted to determine whether collateral arteries should be unifocalized or treated with intraoperative ligature.Specimens were collected and stained by HE and ET+VG.Results:Twelve patients underwent one-stage unifocalization at a median age of 37 months(range:6–228 months)and a median weight of 14.0 kg(range:5.0–49.0 kg),which produced a favorable right ventricle to aortic systolic pressure ratio of no more than 0.5 except in one patient who died.Patients were divided into three groups:Group 1(n=6),had no native pulmonary arteries,and collateral arteries supplied all pulmonary blood;Group 2(n=6)presented dysplastic native pulmonary arteries on one or both sides,and in some lung lobes or segments,blood was supplied only by collateral arteries;Group 3(n=1)had well-developed left and right pulmonary arteries,and collateral arteries,and pulmonary arteries provided blood flow to the same segments.Pathological reports demonstrated two types of collateral arteries:Elastic arteries presented an arborization distribution similar to native pulmonary artery walls,while muscular arteries showed high resistance and distortion.We selectively unifocalized single-supply collateral arteries with morphologic features based on the arborization distribution.Conclusions:We found that there were two kinds of MAPCAs with different histology,and we performed selective UF for MAPCAs that might belong to the elastic artery.Selective unifocalization achieved a low right ventricle to aortic systolic pressure ratio and favorable surgical effects.

Whole Exome Sequencing Identifies A Novel Pathogenic Bmpr2 Variant in Pulmonary Atresia

Objective:Pulmonary atresia(PA)is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery.Therefore,defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling,future prenatal diagnosis,and therapeutic approaches for pulmonary atresia.Methods:Blood samples were collected from six PA family members,and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit.Gene detection was performed using a second-generation sequencing gene panel.Results:Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the BMPR2 gene of the proband’s genomic DNA.The pathogenic gene was c.2804C>T(p.A935V).The mutation was also detected in the genomic DNA of the proband’s elder brother(III-1),but not in other family members.Conclusion:To the best of our knowledge,this is the first study to report the BMPR2 variant responsible for pulmonary atresia.The frequency of the c.2804C>T(p.A935V)mutation detected in this family is extremely low in the normal population(1/246048).The mutation was highly conserved among different species.Sorting intolerant from tolerant(SIFT)predicts it to be a harmful mutation.

Hybrid procedure for pulmonary atresia with intact ventricular septum

Objective In patients with pulmonary atresia and intact ventricular septum (PAIVS) without right ventricular-dependent coronaries,catheter techniques including the use of a sniff wire,lasers,and radiofrequency have been the most widely used as initial therapy. However,percutaneous perforation and balloon valvuloplasty were associated with higher rate of procedural failure and

Right Sub-Axillary Incision for Right Pulmonary Vein Atresia in a Child:A Case Report and Literature Review

Unilateral pulmonary vein atresia(UPVA)in children is a rare disease that is characterized by a recurrent pulmonary infection and hemoptysis in childhood.This paper is a report of a case of pulmonary venous atresia treated by a right sub-axillary incision.Hopefully,more literature can be produced to improve the awareness and treatment level of pulmonary vein atresia.

Original article：A novel two-stage complete repair method for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries

Background Pulmonary atresia with ventricular septal defect （PA-VSD） and major aortopulmonary collateral arteries （MAPCAs） remains a challenging complex congenital heart disease nowadays. In the present study, we aimed to develop a two-stage surgical method and to evaluate outcomes of this method in managing PA-VSD and MAPCAs. Methods Between December 2003 and December 2008, 7 female and 4 male patients between the age of 5 and 10 years who were suffering from PA-VSD and MAPCAs were selected and recruited. The native pulmonary artery trunks were absent in all patients; the lungs were solely supplied by major aortopulmonary collaterals, and the numbers of supplied lung segments ranged from 15 to 20 （17.9±1.6）. There were a total of 43 MAPCAs in all the patients （3-5 （3.9~0.7） MAPCAs per patient）. The accumulated Nakata index was （222.9＋_29.9） mm2/m2 （ranged from 182 to 272）. All the patients underwent two sequential operations. Stage one included left major aortopulmonary collateral unifocalization and modified Blalock-Taussig shunt from left posterior lateral thoracotomy; stage two comprised right unifocalization, ligation of the shunt, followed by ventricular septal defect closure and right ventricular outflow tract reconstruction assisted with cardiopulmonary bypass from midline sternotomy. Results All the patients survived the initial surgery, but one of them died of low cardiac output syndrome on the third day after the second operation. Postoperative complications included pneumonia in one case and capillary leak syndrome in another. Postoperative oxygen saturation maintained about 95%-100%, which was significantly higher than pre-operation （P 〈0.01）. During the follow-up period of 3-51 （25.4±15.2） months, there were no late death and no need for reintervention. All the patients enjoyed their lives with good conditions. Conclusions This two-stage complete repair strategy was well-tolerated and effective with good outcome, thus offering an alternative surgical approach in the treatment of PA-VSD and MAPCAs.

The Clinical Application Value of Selective Unifocalization in the Treatment of Severe Pulmonary Artery Atresia with Ventricular Septal Defect

Background:This study aims to explore the efficacy of selective unifocalization(UF)for major aortopulmonary collateral arteries(MAPCAs)unifocalization in children with pulmonary atresia with ventricular septal defect(PA/VSD).Methods:A retrospective analysis of 13 patients with PA/VSD/MAPCAs who underwent surgery from June 2017 to December 2019.Sex,age,preoperative cardiovascular angiography test results and McGoon ratio were collected.The properties of the collateral arteries were evaluated by angiography,and selective UF for the“dendritic”MAPCAs and ligation of MAPCAs demonstrating distortion and resistance.Results:A total of 13 severe patients underwent one-stage repair,of which 1 case underwent ventricular septal fenestration and died after 2 weeks of ECMO support.The median age was 37 months,and a median weight was 14.0 kg.A right ventricular to aortic systolic pressure ratio(pRV/pAo)of no more than 0.5 was achieved in 12 living patients.Conclusion:Selective unifocalization based on MAPCAs morphology can achieved a good outcome at the early stage.This surgical concept might be provided a novel insight into treatment for some of the subgroups presenting with this complex form of PA/VSD/MAPCAs.

Impact of right ventricle to pulmonary artery connection and systemic-to-pulmonary artery shunt surgery on promoting the development of pulmonary vasculature in patients with pulmonary atresia with ventricular septal defect

Background Pulmonary atresia with ventricular septal defect(PA/VSD)is a rare and complex congenital heart disease(CHD).The optimal palliative surgical strategy for pulmonary atresia with ventricular septal defect(PA/VSD)in neonates and young infants is controversial.Surgery mainly includes the following two options,right ventricle to pulmonary artery connection(RV-PA)and systemic-to-pulmonary artery shunt surgery(SPS).Objectives:To determine the impact of the right ventricle to pulmonary artery connection or systemic-to-pulmonary artery shunt surgery as the initially palliated surgical strategy on promoting the development of pulmonary vasculature in patients with pulmonary atresia and ventricular septal defect(PA/VSD).Methods:From January 2010 to December 2019,104 patients with PA/VSD in Guangdong Cardiovascular Institute who underwent right ventricle to pulmonary artery connection or systemic-to-pulmonary artery shunt surgery as the initially palliated surgical strategy to promoting the development of pulmonary vasculature were identified and enrolled in this retrospective study.The cohort was divided into two groups:group-Right Ventricle to Pulmonary Artery Connection(RV-PA),who underwent initial palliation with staged repair(n=51),and group-Systemic-to-Pulmonary Artery Shunt(SPS)(n=53).Preoperative and postoperative the development of pulmonary vasculature data have been collected and compared.Results:Before the surgery,the Mc Goon Ratio of the RV-PA group significantly high than and the SPS group(P<0.05).After the surgery,in the RV-PA group,the Nakata index,Mc Goon Ratio score significantly increased during the interstage period(P<0.01).At the meantime,the HCT,RBC and HB significantly reduced in the RV-PA group compared with the SPS group(P<0.05).The shunt group performed better in these areas:length of hospital stay,ACC time and CPB time(P<0.05).Conclusion:Compared with systemic-to-pulmonary artery shunt,right ventricle to pulmonary artery connection is more effective to promote the development of the pulmonary vasculature for pulmonary atresia with ventricular septal defect.

Transcatheter pulmonic valve implantation: Techniques, current roles, and future implications

Right ventricular outflow tract(RVOT)obstruction is present in a variety of congenital heart disease states including tetralogy of Fallot,pulmonary atresia/stenosis and other conotruncal abnormalities etc.After surgical repair,these patients develop RVOT residual abnormalities of pulmonic stenosis and/or insufficiency of their native outflow tract or right ventricle to pulmonary artery conduit.There are also sequelae of other surgeries like the Ross operation for aortic valve disease that lead to right ventricle to pulmonary artery conduit dysfunction.Surgical pulmonic valve replacement(SPVR)has been the mainstay for these patients and is considered standard of care.Transcatheter pulmonic valve implantation(TPVI)was first reported in 2000 and has made strides as a comparable alternative to SPVR,being approved in the United States in 2010.We provide a comprehensive review in this space–indications for TPVI,detailed procedural facets and up-to-date review of the literature regarding outcomes of TPVI.TPVI has been shown to have favorable medium-term outcomes free of reinterventions especially after the adoption of the practice of pre-stenting the RVOT.Procedural mortality and complications are uncommon.With more experience,recognition of risk of dreaded outcomes like coronary compression has improved.Also,conduit rupture is increasingly being managed with transcatheter tools.Questions over endocarditis risk still prevail in the TPVI population.Head-to-head comparisons to SPVR are still limited but available data suggests equivalence.We also discuss newer valve technologies that have limited data currently and may have more applicability for treatment of native dysfunctional RVOT substrates.

2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping

A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia,double outlet infundibulum,subvalvar pulmonary atresia,large secundum atrial septal defect,and right aortic arch with mirror-image branching,consistent with developmental arrest early in heart looping.To the best of our knowledge,no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology.Hence,this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.

Management of“Wall to Wall Heart”in a Transient Neonatal Tricuspid Regurgitation

We present a case of a one-day-old newborn,without prenatal diagnosis,referred to our cardiologic intensive care unit in critical condition presenting sub-cyanosis and peripheral oxygen saturation of 80%.Echocardiography diagnosis was tricuspid valve dysplasia with severe regurgitation,functional pulmonary valve atresia with intact ventricular septum and reversal flow in the large patent ductus arteriosus(PDA).Chest X-ray showed severe cardiomegaly and wall to wall heart.Prostaglandin E1 infusion was started once after birth.After few days,clinical conditions progressively worsened because of right heart failure;a first pharmacological approach to close PDA failed and surgery ligation of PDA was necessary to restore anterograde pulmonary flow and heart size.