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Objective: Congenital defects/diseases Background: Congenital heart diseases (CHDs) are the most common form of birth defects, affecting the structure and function of neonatal hearts. Pulmonary valve stenosis (PVS) and ventricular septal defects (VSD) are 2 of the more prevalent forms, both of which can lead to significant morbidity if left untreated. The emergence of transcatheter techniques has revolutionized the therapeutic landscape, presenting minimally invasive yet effective alternatives to open-heart surgery and significantly reducing associated patient morbidity and recovery time. Case Report: The presented case details the management of a 19-year-old man with complex CHDs, highlighting the nuanced decision-making process that led to a transcatheter approach. The patient's clinical presentation, marked by symptoms reflective of significant cardiac compromise, demanded a tailored approach that utilized the latest advancements in non-surgical intervention. The successful closure of the VSD with an Amplatzer device and the resolution of PVS via balloon valvuloplasty were achieved without complications, showcasing the potential of these techniques in managing similar cases. The post-intervention period was marked by a noteworthy recovery, confirming the procedural efficacy and enhancing the patient's quality of life. Conclusions: The favorable outcome of this case highlights the pivotal role of transcatheter interventions in treating complex CHDs and suggests a shift towards less invasive approaches in cardiac care. This case contributes valuable insights to the existing body of evidence, reinforcing the potential of transcatheter techniques to become the preferred treatment modality. With promising immediate and short-term results, these techniques highlight the need for continued research into their long-term efficacy and application across diverse patient demographics. [ABSTRACT FROM AUTHOR]

Background: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. Objective: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. Methods: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. Results: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. Conclusions: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts. [ABSTRACT FROM AUTHOR]

Anesthesia management of fetal pulmonary valvuloplasty (FPV) is difficult, requiring careful consideration of both the mother and the fetus. Few reports have been published on specific anesthesia implementation and intraoperative management. We report the case of a pregnant woman who was treated with FPV under combined spinal epidural anesthesia (CSEA) with dexmedetomidine in the second trimester of pregnancy. Meanwhile, the application of fetal anesthesia through the umbilical vein was optimal. During the operation, the vital signs of the pregnant woman were stable with no complications and the fetal bradycardia was corrected by intracardiac injection of epinephrine. Four months postoperatively, a boy was born alive by full-term transvaginal delivery. CSEA may be a suitable anesthesia method for FPV surgery. Nevertheless, maternal hemodynamic stability maintenance, effective fetal anesthesia, and timely fetal resuscitation were necessary.

Peng An,1,2,* Lina Song,1,* Ping Song,3,* Junyan Zhang,1,3 Yong Lin,1,3 Guoyan Feng,1 Junjie Liu3 1Department of Radiology, Xiangyang No.1 People’s Hospital, Hubei University of Medicine, Xiangyang, 441000, People’s Republic of China; 2Hubei Provincial Clinical Research Center for Accurate Fetus Malformation Diagnosis, Hubei University of Medicine, Xiangyang, Hubei Province, 441000, People’s Republic of China; 3Department of Obstetrics and Gynecology, Xiangyang No. 1 People’s Hospital, Hubei University of Medicine, Xiangyang, 441000, People’s Republic of China*These authors contributed equally to this workCorrespondence: Junjie Liu; Guoyan Feng, Xiangyang NO.1 People’s Hospital, No. 15 Jiefang Road, Fancheng District, Xiangyang City, Hubei Province, People’s Republic of China, Email liujj2023@yeah.net; fengguoyan2022@yeah.netObjective: The present study aimed to explore the role of modified vascular anatomical molding (MVAM) in prenatal diagnosis teaching and prognosis prediction of fetal complex congenital heart disease (CCHD).Methods: Step 1, MVAM method was used to cast the micro-blood vessels and trachea of 52 CCHD specimens. Subsequently, 52 MVAMs were analyzed and compared with the prenatal ultrasound to summarize their characteristics, misdiagnosis and MVAM’s teaching role. Step 2, the surgical and follow-up data of 206 CCHD cases were retrospectively analyzed. Cases that evolved into critical illnesses or died within 1– 3 years after surgery (poor prognosis) were classified into the study group (n = 77) and those with good prognosis into the control group (n = 129), which were split into the training set and the test set in the ratio 7:3 based on the time cut-off. In the training set, the prognosis of CCHD was predicted using the MVAM anatomical soft markers (distortion and narrowing of aorta/pulmonary artery, right ventricular infundibulum, etc.) and the decision curve analysis (DCA) performed. The model was validated using the test set, and a nomogram was finally established.Results: It was observed that all 52 CCHD cases were confirmed using MVAM. A total of 91 cardiac malformations were recorded, among which 41 malformations were misdiagnosed, and 29 malformations were missed by the prenatal echocardiography. The MVAM method has a good teaching/feedback effect on prenatal diagnosis. The combined model exhibited a higher predictive performance in the training- and test-set. Its high clinical net benefit was proved by DCA. Additionally, the nomogram established using the combined model received a favorable response in clinical practice.Conclusion: The research results indicated that MVAM improved the prenatal diagnosis teaching and training performance. The combined model established based on MVAM anatomical soft markers can offer a high clinical significance for prognosis prediction of CCHD.Keywords: modified vascular anatomical molding, MVAM, complex cardiovascular malformation, CCHD, combined model, CM, interrupted aortic arch, IAA, coarctation of the aorta, COA, pulmonary valve stenosis, PVS, right aortic arch, RAA, transposition of the great arteries, TGA, right aortic arch with mirror-image branching, RAMI, double-outlet right ventricle, DORV

Abstract Background Pulmonary stenosis (PS) is a congenital heart diseases (CHDs) with a spectrum of stenosis. Monochorionic (MC) twins are at increased risk of CHDs, especially acquired CHDs in twin-twin transfusion syndrome (TTTS). PS/Pulmonary atresia (PA) is a rare coincidence with TTTS. MC twin pregnancies have increased in last decades due to increasing in maternal age and extensive use of assisted reproductive technologies. Therefore, attention to this group is important for heart abnormalities, especially in twins with TTTS. Multiple cardiac abnormalities in MC twins with TTTS are to be expected due to cardiac hemodynamic changes and may be eliminated by Fetoscopic laser photocoagulation treatment. Prenatal diagnosis of PS is necessary given the importance of treatment after birth. Case presentation We here present a case of coexistence of TTTS with PS in a growth restricted recipient twin who successfully treated with balloon pulmonary valvuloplasty in neonatal period. Also, we detected infundibular PS after valvuloplasty that treated with medical therapy (propranolol). Conclusions It is important to detect acquired cardiac abnormalities in MC twins with TTTS, and follow them up after birth to determine the need of intervention in neonatal period.

Federico Marchini, Sofia Meossi, Giulia Passarini, Gianluca Campo, Rita Pavasini Cardiology Unit, Azienda Ospedaliero Universitaria di Ferrara, Ferrara, ItalyCorrespondence: Rita Pavasini, Cardiology Unit, Azienda Ospedaliero Universitaria di Ferrara, Via Aldo Moro 8, Ferrara, FE, 44124, Italy, Tel +39 0532237227, Email pvsrti@unife.itAbstract: Pulmonary stenosis (PS) is mainly a congenital defect that accounts for 7– 12% of congenital heart diseases (CHD). It can be isolated or, more frequently, associated with other congenital defects (25– 30%) involving anomalies of the pulmonary vascular tree. For the diagnosis of PS an integrated approach with echocardiography, cardiac computed tomography and cardiac magnetic resonance (CMR) is of paramount importance for the planning of the interventional treatment. In recent years, transcatheter approaches for the treatment of PS have increased however, meaning surgery is a possible option for complicated cases with anatomy not suitable for percutaneous treatment. The present review aims to summarize current knowledge regarding diagnosis and treatment of PS.Keywords: pulmonary valve stenosis, percutaneous treatment, valvotomy, valvuloplasty

Background: Pulmonary stenosis (PS) is a congenital heart diseases (CHDs) with a spectrum of stenosis. Monochorionic (MC) twins are at increased risk of CHDs, especially acquired CHDs in twin-twin transfusion syndrome (TTTS). PS/Pulmonary atresia (PA) is a rare coincidence with TTTS. MC twin pregnancies have increased in last decades due to increasing in maternal age and extensive use of assisted reproductive technologies. Therefore, attention to this group is important for heart abnormalities, especially in twins with TTTS. Multiple cardiac abnormalities in MC twins with TTTS are to be expected due to cardiac hemodynamic changes and may be eliminated by Fetoscopic laser photocoagulation treatment. Prenatal diagnosis of PS is necessary given the importance of treatment after birth. Case presentation: We here present a case of coexistence of TTTS with PS in a growth restricted recipient twin who successfully treated with balloon pulmonary valvuloplasty in neonatal period. Also, we detected infundibular PS after valvuloplasty that treated with medical therapy (propranolol). Conclusions: It is important to detect acquired cardiac abnormalities in MC twins with TTTS, and follow them up after birth to determine the need of intervention in neonatal period. [ABSTRACT FROM AUTHOR]

Introduction: Pulmonary valve stenosis determines multiple effects on the right ventricular dimension and function. Percutaneous balloon valvuloplasty is the treatment of choice in severe pulmonary valve stenosis in patients of all ages. However, little is known regarding right ventricular function immediate changes after percutaneous balloon dilation. Pediatric patients with isolated pulmonary valve stenosis represent a pure clinical model of chronic RV pressure overload not affected by other confounders or comorbidities. Aim of the study: This study seeks to explore right ventricle (RV) mechanics in pediatric patients early after percutaneous balloon pulmonary valvuloplasty (BPV) for valvar pulmonary stenosis (PS). Materials and Methods: Forty-three pediatric patients (19 males), mean age 3.2 ± 4.9 years old, with severe pulmonary valve stenosis and indication for percutaneous balloon valvuloplasty were recruited. All patients underwent standard transthoracic echocardiography (TTE), and speckle-tracking echocardiography (STE) with an analysis of right ventricle free-wall longitudinal strain (RVFWLS) one day before and one day after the procedure. For each patient, we collected invasive parameters during the interventional procedure before and after BPV. Results: After the procedure, there was an immediate significant reduction in both peak-to-peak transpulmonary gradient (peak-to-peak PG) and ratio between the right ventricle and aortic systolic pressure (RV/AoP) with a drop of ∆29.3 ± 14.67 mmHg and ∆0.43 ± 0.03, respectively. Post-procedural echocardiography showed peak and mean transvalvar pressure gradient drop (∆50 ± 32.23 and ∆31 ± 17.97, respectively). The degree of pulmonary valve regurgitation was mild in 8% of patients before the procedure, affecting 29% of our patients post-BPV (p = 0.007). The analysis of right ventricular mechanics showed a significant improvement of fractional area change (FAC) immediately after BPV (40.11% vs. 44.42%, p = 0.01). On the other hand, right ventricular longitudinal systolic function parameters, TAPSE and global RVFWLS, did not improve significantly after intervention. The segmental analysis of the RVFWLS showed a significant regional increase in the myocardial deformation of the apical segments. Conclusions: Percutaneous BPV represents an efficient and safe procedure to relieve severe pulmonary valve stenosis. The analysis of the right ventricular function on echocardiography demonstrated an immediate global systolic function improvement, while longitudinal systolic function was persistently impaired 24 h after intervention, possibly due to the necessity of a longer recovery time. [ABSTRACT FROM AUTHOR]

Fibrinogen deficiencies in neonates can lead to bleeding complications. In this report, we describe a case of congenital afibrinogenemia in a newborn with critical pulmonary stenosis who presented with bilateral cephalohematomas after an uncomplicated delivery. The initial use of cryoprecipitate was followed by administration of fibrinogen concentrate. We estimated a half-life of 24 to 48 hours with the concentrate product. This patient received fibrinogen replacement and had a subsequent successful cardiac repair. The drug’s shorter half-life in this neonate contrasts with prior reports of longer half-life in older patients and is important to note in treating future neonatal patients with this diagnosis. [ABSTRACT FROM AUTHOR]

Background: Pulmonary valve stenosis (PS) is a prevalent congenital heart disorder in children, and symptoms include chest distress, dyspnea, cyanosis, and heart failure in its severe criteria. Objective: To learn more about the short-term results of balloon pulmonary valvuloplasty in children who had severe pulmonary stenosis. Patients and methods: Between January 2015 and December 2018, a 4-year cross-sectional study was conducted in various centers across Egypt, with funding from the "Dar Al Orman charity". We included 146 Children varied from 5 months to 17 years of either sex diagnosed as severe pulmonary stenosis' case with doming valve with mean value of peak pressure gradient across the pulmonary valve of 74 mmHg on echocardiography. Patients were intervened with balloon-valvuloplasty. Results: There were 74 (50.7%) men and 72 (49.3%) women among the 146 patients. The average age was 5.34 (SD 0.5) years. On echocardiography, the mean pre-cath gradient via the pulmonary valve was 74.44 (SD 9.5) mmHg. The mean pressure gradient across PV was 19.54 (SD 1.9) mmHg after the intervention, (P-value 0.001). Before intervention, the pulmonary valve annulus on echocardiography varied from 8.5 to 20 mm, with a mean of 13.44 (SD 3.2) mm. Most patients (89%) had no complications. Only 2 (1.4%) patients had severe pulmonary valve regurgitation, and 1 (0.7%) patient had right ventricular outflow tract perforation (0.7%). Conclusion: Balloon pulmonary valvuloplasty is the preferred treatment for stenosis of the pulmonary valve in people of all ages, and it has few side effects. [ABSTRACT FROM AUTHOR]

Abstract Background Transesophageal echocardiography (TEE) is useful in the assessment and procedural monitoring of congenital heart disease (CHD) with a relatively low complication rate in humans. Objectives To evaluate the safety of TEE and report complications in dogs. Animals Forty client‐owned dogs with CHD. Methods Prospective observational study including gastroesophagoscopy before and after TEE imaging. TEE was planned with a GE 6VT‐D adult probe in dogs weighing ≥4 kg and a GE 10T‐D microprobe alternating with an intracardiac echocardiography probe placed in the esophagus in dogs

Objective: The study aims to assess the cardiovascular safety of growth hormone (GH) treatment in patients with Noonan syndrome (NS) in clinical pra ctice. Design: The study design involves two observational, multicentre studies (NordiNet® IOS and the ANSWER Program) evaluating the long-term effectiveness a nd safety of GH in >38,000 paediatric patients, of which 421 had NS. Methods: Serious adverse events, serious adverse reactions (SARs) and non-serious adverse reactions (NSARs) were reported by the treating physici ans. Cardiovascular comorbidities at baseline and throughout the studies were also recorded. Results: The safety analysis set comprised 412 children with NS (29.1% females), with a mean (s.d.) baseline age of 9.29 (3.88) years, treated with an average GH dose of 0.047 (0.014) mg/kg/day during childhood. Cardiovascular comorbidities at baseline were reported in 48 (11.7%), most commonly pulmonary valve sten osis (PVS) and atrial septal defects. Overall, 22 (5.3%) patients experienced 34 safe ty events. The most common were the NSARs: headache (eight events in seven patients ) and arthralgia (five events in three patients). Two SARs occurred in one patien t (brain neoplasm and metastases to spine). No cardiovascular safety events were reco rded in patients with NS. Five cardiovascular comorbidities in five patients were repo rted after initiation of GH treatment: three cases of unspecified cardiovascular disease, on e ruptured abdominal aortic aneurysm and one PVS. Conclusions: GH treatment had a favourable safety profile in patients with NS, including those with cardiovascular comorbidities. Prospective studies are warranted to systematically assess the safety of GH treatment in patients with NS and cardiovascular disease.

Background: To assess immediate and intermediate outcomes of percutaneous balloon pulmonary valvuloplasty (BPV) in children and adults. Materials and Methods: This retrospective, single-center study included patients who had undergone balloon valvuloplasty for the treatment of moderate to severe pulmonary stenosis at a tertiary care center in India between May 2011 and July 2018. Clinical profile, echocardiographic details, procedural details, complications, short term, and intermediate results were assessed. Results: A total of 43 patients were assessed. The mean age of the study population was 13.87 ± 11.71 years. Of them, 21 (48.8%) patients were men and 30 (69.8%) patients were children/adolescents. Single-balloon technique was used in all the cases. Balloon/annulus ratio was 1.28 ± 0.04. Immediate procedural success (Group 1) and partial procedural success (Group 2) were achieved in 26 (60.5%) and 17 (39.5%) patients, respectively. The right ventricular systolic pressure reduced from 117.70 ± 31.77 mmHg to 53.56 ± 13.29 mmHg postprocedure (P < 0.001). Peak-to-peak transvalvular gradient reduced from 102.81 ± 31.66 mmHg to 35.56 ± 12.47 mmHg postprocedure (P < 0.001). Intermediate follow-up was conducted for 2.61 ± 0.75 years (range: 2–4 years). At intermediate follow-up, peak-to-peak instantaneous gradient was 27.21 ± 5.80 mmHg. Restenosis, moderate, and severe pulmonary regurgitation were reported in 2 (7.1%), 4 (14.3%), and 2 (7.1%) patients, respectively. Conclusion: Percutaneous BPV is a safe and efficacious procedure for the treatment of moderate to severe pulmonary valve stenosis in children and adults. The procedure had excellent immediate and intermediate follow-up results.

BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these methods are limited.ObjectivesTo determine the effects of butorphanol, atenolol, and balloon valvuloplasty (BV) on velocity ratio, VTI ratio, iPVA, mean PG, and max PG.AnimalsTwenty-seven dogs with PS (max PG >50 mm Hg).MethodsProspective study. All dogs underwent an echocardiogram at baseline, 5-minutes after administration of butorphanol (0.2-0.25 mg/kg IV), and 2-to-4 weeks after atenolol (1-1.5 mg/kg q12h). Twenty-one of these were evaluated 24-hours after BV.ResultsThere were no significant differences (P > .05) amongst any of the methods of assessment of PS severity after butorphanol. After atenolol, mean (SD) of mean (57.0 [21.0] mm Hg) and max PG (93.1 [33.8] mm Hg) were significantly decreased (P ≤ .047) compared with baseline (65.2 [26.2] mm Hg and 108 [44.4] mm Hg, respectively). After atenolol, there were no significant (P ≥ .12) differences in velocity ratio (0.29 [0.09]), VTI ratio (0.18 [0.05]), or iPVA (0.43 [0.16] cm2 /m2 ) compared with baseline (0.30 [0.09], 0.19 [0.09], 0.44 [0.17] cm2 /m2 , respectively).Conclusions and clinical importanceAtenolol might reduce mean and max PG but does not alter less flow-dependent methods of assessment of PS severity (velocity ratio, VTI ratio, and iPVA) in dogs with PS. Results support an integrative approach to assessment of PS severity that includes less flow-dependent methods, particularly in states of altered flow or right ventricular function.

Deletion of 22q11.2 (del22q11) is associated with adverse outcomes in patients with tetralogy of Fallot (TOF). We sought to investigate its contribution to perioperative outcome in patients with a severe form of TOF characterized by pulmonary atresia (PA) or severe pulmonary stenosis (PS) and major aortopulmonary collateral arteries (MAPCAS). We conducted a retrospective review of patients with TOF/MAPCAS who underwent staged surgical reconstruction between 1995 and 2006. Groups were compared according to 22q11.2 deletion status using t-tests or the Wilcoxon Rank sum test. We included 26 subjects, 24 of whom survived the initial operation. Of those, 21 subjects had known deletion status and constitute the group for this analysis [15 with no deletion present (ND) and 6 del22q11 subjects]. There was no difference with respect to occurrence of palliative procedure prior to initial operation, or to timing of closure of the ventricular septal defect (VSD). Other than higher prevalence of prematurity (50%) in the del22q11 group versus no prematurity in the ND, the groups were comparable in terms of pre-operative characteristics. The intra- and post-operative course outcomes (length of cardiopulmonary bypass, use of vasopressors, duration of intensive care and length of hospital stay, tube-feeding) were also comparable. Although the del22q11 had longer mechanical ventilation than the ND, this difference was not significant [68 h (range 4-251) vs. 45 h (range 3-1005), p = 0.81]. In this detailed comparison of a small patient cohort, 22q11.2 deletion syndrome was not associated with adverse perioperative outcomes in patients with TOF, PA, and MAPCAS when compared to those without 22q11.2 deletion syndrome. These results are relevant to prenatal and neonatal pre-operative counseling and planning.

Background: Unilateral absence of a pulmonary artery (UAPA) is a rare congenital cardiovascular malformation. More than half of UAPA cases have other cardiac lesions such as tetralogy of Fallot or septal defects. Clinical manifestations are diverse and range from heart failure after birth to an incidental finding on chest imaging during adulthood. Whereas early surgical revascularization is recommended in infancy, this is usually not feasible in the adult population. Management in these patients is aimed at treating the complications of UAPA. Case Report: A 67-year-old woman was evaluated for subacute right heart failure. An echocardiogram revealed pulmonary stenosis, tricuspid regurgitation, and depressed right ventricular function. Chest computed tomography (CT) showed absence of the right pulmonary artery. Additionally, there was a lung tumor in the right upper lobe. Right-heart catheterization confirmed a critically obstructed pulmonary orifice shown by hemodynamic collapse when crossing the pulmonary valve with the catheter. The patient underwent pulmonary valve balloon dilatation with right ventricular outflow tract stenting followed by percutaneous implantation of a balloon-expandable stent-valve. The clinical course was complicated by a complete heart block. Oncologic management consisted of stereotactic radiotherapy. Conclusions: The combination of UAPA, pulmonary stenosis, and lung cancer is rare. Pulmonary stenosis worsens prognosis in adult patients with UAPA, but also constitutes a therapeutic target. The decision to treat the pulmonary stenosis should be based on the severity of stenosis, the degree of pulmonary hypertension, and individual anatomy. We chose percutaneous pulmonary valve implantation because our patient had a critical pulmonary stenosis with normal pulmonary pressures. [ABSTRACT FROM AUTHOR]

Background: Complications and need for reinterventions are frequent in patients with pulmonary valve stenosis (PVS). Pulmonary regurgitation is common, but no data are available on outcome after pulmonary valve replacement (PVR).Methods: We performed a retrospective analysis of 215 patients with PVS who underwent surgical valvotomy or balloon valvuloplasty. Incidence and predictors of reinterventions and complications were identified. Right ventricle (RV) remodelling after PVR was also assessed.Results: After a median follow-up of 38.6 (30.9-49.4) years, 93% of the patients were asymptomatic. Thirty-nine patients (18%) had at least one PVR. Associated right ventricular outflow tract (RVOT) intervention and the presence of an associated defect were independent predictors of reintervention (OR: 4.1 (95% CI 1.5 to 10.8) and OR: 3.6 (95% CI 1.9 to 6.9), respectively). Cardiovascular death occurred in 2 patients, and 29 patients (14%) had supraventricular arrhythmia. Older age at the time of first intervention and the presence of an associated defect were independent predictors of complications (OR: 1.0 (95% CI 1.0 to 1.1) and OR: 2.1 (95% CI 1.1 to 4.2), respectively). In 16 patients, cardiac magnetic resonance before and after PVR was available. The optimal cut-off values for RV volume normalisation were 193 mL/m2 for RV end-diastolic volume indexed(sensitivity 80%, specificity 64%) and 100 mL/m2 for RV end-systolic volume indexed(sensitivity 80%, specificity 56%).Conclusions: Previous RVOT intervention, presence of an associated defect and older age at the time of first repair were predictors of outcome. More data are needed to guide timing of PVR, and extrapolation of tetralogy of Fallot guidelines to this population is unlikely to be appropriate. [ABSTRACT FROM AUTHOR]

Congenital heart disorders (CHDs) are a major cause of juvenile morbidity and mortality in many poor nations, owing to late detection and a lack of talent and facilities for decisive treatments. A case of a newborn baby with atrial septal defect (ASD) with patent ductus arteriosus (PDA), tricuspid atresia (TA), and pulmonary valve stenosis is admitted to the pediatric ward. It is a complex cardiac anomaly that leads to mortality and morbidity. We rarely get to see a baby dealing with four major complex heart conditions except in the condition of tetralogy of Fallot. The child was a known case of congenital heart disease. Symptomatic treatment was given and treated with antibiotics.

Introduction: Pulmonary valve stenosis determines multiple effects on the right ventricular dimension and function. Percutaneous balloon valvuloplasty is the treatment of choice in severe pulmonary valve stenosis in patients of all ages. However, little is known regarding right ventricular function immediate changes after percutaneous balloon dilation. Pediatric patients with isolated pulmonary valve stenosis represent a pure clinical model of chronic RV pressure overload not affected by other confounders or comorbidities. Aim of the study: This study seeks to explore right ventricle (RV) mechanics in pediatric patients early after percutaneous balloon pulmonary valvuloplasty (BPV) for valvar pulmonary stenosis (PS). Materials and Methods: Forty-three pediatric patients (19 males), mean age 3.2 ± 4.9 years old, with severe pulmonary valve stenosis and indication for percutaneous balloon valvuloplasty were recruited. All patients underwent standard transthoracic echocardiography (TTE), and speckle-tracking echocardiography (STE) with an analysis of right ventricle free-wall longitudinal strain (RVFWLS) one day before and one day after the procedure. For each patient, we collected invasive parameters during the interventional procedure before and after BPV. Results: After the procedure, there was an immediate significant reduction in both peak-to-peak transpulmonary gradient (peak-to-peak PG) and ratio between the right ventricle and aortic systolic pressure (RV/AoP) with a drop of ∆29.3 ± 14.67 mmHg and ∆0.43 ± 0.03, respectively. Post-procedural echocardiography showed peak and mean transvalvar pressure gradient drop (∆50 ± 32.23 and ∆31 ± 17.97, respectively). The degree of pulmonary valve regurgitation was mild in 8% of patients before the procedure, affecting 29% of our patients post-BPV (p = 0.007). The analysis of right ventricular mechanics showed a significant improvement of fractional area change (FAC) immediately after BPV (40.11% vs. 44.42%, p = 0.01). On the other hand, right ventricular longitudinal systolic function parameters, TAPSE and global RVFWLS, did not improve significantly after intervention. The segmental analysis of the RVFWLS showed a significant regional increase in the myocardial deformation of the apical segments. Conclusions: Percutaneous BPV represents an efficient and safe procedure to relieve severe pulmonary valve stenosis. The analysis of the right ventricular function on echocardiography demonstrated an immediate global systolic function improvement, while longitudinal systolic function was persistently impaired 24 h after intervention, possibly due to the necessity of a longer recovery time.

Background: Common cardiac abnormalities in Noonan syndrome (NS) include congenital heart diseases (CHD), pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Molecular diagnoses are enabling earlier and more precise diagnosis of patients who have a subtle or atypical presentation. The aims of this study were to investigate genotype-phenotype associations with respect to Noonan syndrome (NS)-associated cardiac abnormalities and catheter or surgery-based interventions conditions. Methods: From January 2019 to December 2021, 22 children with a confirmed molecular diagnosis of NS combined with cardiovascular abnormalities were consecutively enrolled into the current study. A comprehensive review was carried out of echocardiography and electrocardiogram results, second-generation whole-exome sequencing results and catheter or surgery-based interventions conditions. Results: The main manifestations of electrocardiogram abnormalities were QTc prolongation, abnormal Q wave in the precordial lead and limb lead, right ventricular hypertrophy and left or right deviation of the electrical axis. The most commonly detected abnormality was pulmonary valve dysplasia with stenosis, seen in 15 (68.2%) patients, followed by atrial septal defect in 11 (50%) patients. Seven genes (RAF1 , RIT1 , SOS1 , PTPN11 , BRAF , SOS2 , and LZTR1) were found to contain disease-associated variants. The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1 , SOS1 , PTPN11 , and SOS2 had common echocardiography features characterized by pulmonary valve stenosis, while RAF1 was characterized by HCM. Interestingly, patients with BRAF mutations were not only characterized by HCM, but also by pulmonary valve stenosis. In the cohort there was only one patient carrying a LZTR1 mutation characterized by left ventricle globose dilation. Ten cases underwent catheter or surgery-based interventions. All the operations had immediate results and high success rates. However, some of the cases had adverse outcomes during extended follow-up. Based on the genotype-phenotype associations observed during follow-up, BRAF and RAF1 genotypes seem to be poor prognostic factors, and multiple interventions may be required for NS patients with severe pulmonary stenosis or myectomy for HCM. Conclusions: The identification of causal genes in NS patients has enabled the evaluation of genotype-cardiac phenotype relationships and prognosis of the disease. This may be beneficial for the development of therapeutic approaches. [ABSTRACT FROM AUTHOR]

Noonan syndrome (NS) is an autosomal-dominant disorder with an estimated prevalence of 1 in 1000 to 2500. 1-3 Features most consistent with NS include widely set eyes, low-set ears, short stature, and pulmonary valve stenosis. 1-4 Other conditions associated with NS include hypertrophic cardiomyopathy (HCM), atrial septal defect (ASD), varying degrees of developmental delay, bleeding diatheses, and malignancy. 2-5 A thorough preoperative airway assessment is prudent as patients with NS may be a difficult tracheal intubation due to anatomical abnormalities. 5,6 This case study describes the use of general anesthesia in a pediatric patient with NS undergoing magnetic resonance imaging (MRI). [ABSTRACT FROM AUTHOR]

Introduction: Pulmonary stenosis with an intact ventricular septum (PS-IVS) is one of the common causes of cyanotic heart disease in neonates with diverse morphologies as well as management and treatment protocols. The aim of this study was to evaluate short and midterm results of balloon pulmonary valvuloplasty (BPV) for this disorder. Methods: Between 2012 and 2016, Totally 45 neonates and infants under 6 months old were evaluated.The patients had a minimum right-to-left ventricular pressure ratio of 1, right-to-left shunting at the patent foramen ovale or atrial septal defect level, and tricuspid valve Z-scores higher than -4. Results: Immediately after the procedure, the right ventricular pressure dropped to the normal values in 8 (20%) patients. The immediate procedural success rate was seen in 42 (93.3%) cases: the right-to-left ventricular pressure ratio dropped to below 50% or the level of O2 saturation rose above 75%. Of three cases unresponsive to BPV, two of them underwent patent ductus arteriosus (PDA) stenting and one procedural death occurred. At 6 months’ follow-up, of 42 patients, this pressure was still with in the normal range in 36 (80%) infants, while it had returned to high values in 9 (20%) patients and necessitated repeat valvuloplasty. After BPV, severe pulmonary valve regurgitation was observed in14.2% patients; the condition was more common when high-profile noncompliant balloons were used. Conclusion: Balloon pulmonary valvuloplasty in infants with PS-IVS confers acceptable results insofar as it improves echocardiographic parameters and hemodynamic changes at short- and midterm followups.Balloon selection with sizes more than 1.2 of the diameter of the pulmonary valve annulus and the use of noncompliant high-pressure balloons results in higher degrees of pulmonary regurgitation.

: Anesthesia management of fetal pulmonary valvuloplasty (FPV) is difficult, requiring careful consideration of both the mother and the fetus. Few reports have been published on specific anesthesia implementation and intraoperative management. We report the case of a pregnant woman who was treated with FPV under combined spinal epidural anesthesia (CSEA) with dexmedetomidine in the second trimester of pregnancy. Meanwhile, the application of fetal anesthesia through the umbilical vein was optimal. During the operation, the vital signs of the pregnant woman were stable with no complications and the fetal bradycardia was corrected by intracardiac injection of epinephrine. Four months postoperatively, a boy was born alive by full-term transvaginal delivery. CSEA may be a suitable anesthesia method for FPV surgery. Nevertheless, maternal hemodynamic stability maintenance, effective fetal anesthesia, and timely fetal resuscitation were necessary. [ABSTRACT FROM AUTHOR]

Background: Common cardiac abnormalities in Noonan syndrome (NS) include congenital heart diseases (CHD), pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Molecular diagnoses are enabling earlier and more precise diagnosis of patients who have a subtle or atypical presentation. The aims of this study were to investigate genotype-phenotype associations with respect to Noonan syndrome (NS)-associated cardiac abnormalities and catheter or surgery-based interventions conditions.Methods: From January 2019 to December 2021, 22 children with a confirmed molecular diagnosis of NS combined with cardiovascular abnormalities were consecutively enrolled into the current study. A comprehensive review was carried out of echocardiography and electrocardiogram results, second-generation whole-exome sequencing results and catheter or surgery-based interventions conditions.Results: The main manifestations of electrocardiogram abnormalities were QTc prolongation, abnormal Q wave in the precordial lead and limb lead, right ventricular hypertrophy and left or right deviation of the electrical axis. The most commonly detected abnormality was pulmonary valve dysplasia with stenosis, seen in 15 (68.2%) patients, followed by atrial septal defect in 11 (50%) patients. Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants. The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1, SOS1, PTPN11, and SOS2 had common echocardiography features characterized by pulmonary valve stenosis, while RAF1 was characterized by HCM. Interestingly, patients with BRAF mutations were not only characterized by HCM, but also by pulmonary valve stenosis. In the cohort there was only one patient carrying a LZTR1 mutation characterized by left ventricle globose dilation. Ten cases underwent catheter or surgery-based interventions. All the operations had immediate results and high success rates. However, some of the cases had adverse outcomes during extended follow-up. Based on the genotype-phenotype associations observed during follow-up, BRAF and RAF1 genotypes seem to be poor prognostic factors, and multiple interventions may be required for NS patients with severe pulmonary stenosis or myectomy for HCM.Conclusions: The identification of causal genes in NS patients has enabled the evaluation of genotype-cardiac phenotype relationships and prognosis of the disease. This may be beneficial for the development of therapeutic approaches.