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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.

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]

: 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.

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 <4 kg. Difficulties with probe placement, probe interference and TEE probe imaging times were recorded. Dogs were monitored in the recovery period after TEE using an established nausea scoring system. Results: New gastroesophageal abnormalities were identified after TEE in 4 dogs including 4 areas of mucosal damage involving <25% of the lower esophageal sphincter (n = 4) and 1 lesion at the heart base (n = 1) and were not attributed to longer imaging times or a specific probe. Lesions identified before TEE in 4 dogs remained unchanged after TEE. The 6VT‐D probe could not be placed in 1 dog with enlarged tonsils, and it obstructed fluoroscopic views in 3 dogs. The probes did not compress any structures in dogs in which fluoroscopy was performed (n = 20). Four dogs had evidence to suggest nausea after the procedure. Conclusions and Clinical Importance: While major complications remain possible, complications in this study were mild and few in number. Dog size and probe characteristics are factors to consider when performing TEE. [ABSTRACT FROM AUTHOR]

Patient: Male, 34-year-old Final Diagnosis: Pulmonary stenosis and heart failure 24 years after surgical correction with the Rastelli procedure for congenital D-TGA, VSD, and pulmonary atresia Symptoms: Dyspnea on exertion Medication: -- Clinical Procedure: Pulmonary artery plasty * Rastelli procedure * Right-ventricle-to-pulmonary-artery conduit * VSD closure Specialty: Anatomy * Cardiac Surgery * Cardiology * General and Internal Medicine Objective: Congenital defects/diseases Background: Dextro-transposition of the great arteries (D-TGA) with a ventricular septal defect (VSD) and pulmonary atresia is an uncommon congenital conotruncal abnormality. Surgical correction is performed using the Rastelli procedure, which includes a ventricular septal patch to direct blood from the left ventricle to the aorta and a valved conduit to connect the right ventricle to the pulmonary artery. This report is of a 34-year-old Thai man who presented with pulmonary stenosis and heart failure 24 years after surgical correction with the Rastelli procedure for congenital D-TGA, VSD, and pulmonary atresia. Case Report: A 34-year-old Thai man presented with dyspnea on moderate exertion. His cardiovascular examination revealed a median sternal surgical scar, parasternal heaving, a grade III systolic ejection murmur at the left upper parasternal border, and a single second heart sound. Echocardiography demonstrated degenerative calcification of a severely stenosed pulmonary valve and impaired right ventricular function. A color Doppler M-mode echocardiogram showed VSD patch leakage. A computed tomography scan with 3-dimensional heart reconstruction demonstrated a significantly stenosed branch pulmonary artery. Right and left heart catheterization confirmed the multi-site stenoses were hemodynamically significant. The patient underwent surgery for VSD closure, placement of a right-ventricle-to-pulmonary-artery conduit with a polytetrafluoroethylene graft, and pulmonary artery plasty to correct the stenosis at the branch of the pulmonary artery. Conclusions: The long-term complications of the Rastelli-type operation seen for D-TGA with a VSD and pulmonary atresia included a right-ventricle-to-pulmonary-artery conduit obstruction, VSD patch leakage, and re-stenosis of the peripheral pulmonary stenosis. Multimodal imaging was informative in planning for reoperation. [ABSTRACT FROM AUTHOR]

ObjectivePulmonary valve (PV) stenosis affects cardiac pulmonary function and exercise performance. A cardiopulmonary exercise test (CPET) combined with a transthoracic echocardiogram (TTE) can measure exercise performance, disease progression, and treatment effects. We assessed the exercise capacity in children with PV stenosis by conducting CPET and TTE.MethodsFrom 2005 to 2021, 84 patients with PV stenosis aged 6–18 years were enrolled; 43 were treated with balloon pulmonary valvuloplasty (BPV) (Group A), and 41 received follow-up care (Group B), and their CPET and pulmonary function test results were compared with 84 healthy, matched individuals (Control). We also conducted TTE to compare the peak pulmonary artery pulse wave velocity and pulmonary valve (PV) area before and after catheterization and follow-up care.ResultsThere were no significant differences among the CPET parameters of the patient groups and controls in anaerobic metabolic equivalent (MET) (group A: 6.44 ± 0.58; group B: 6.28 ± 0.47, control: 6.92 ± 0.39, p = 0.110), peak MET (group A: 9.32 ± 0.74; group B: 9.13 ± 0.63; control: 9.80 ± 0.52, p = 0.263), and heart rate recovery (group A: 28.04 ± 4.70; group B: 26.44 ± 3.43, control:26.10 ± 2.42, p = 0.718). No significant differences were found in the pulmonary functions between the three groups. The pulmonary artery pulse wave velocity significantly decreased after catheterization (3.97 ± 1.50 vs. 1.95 ± 0.94, p < 0.0001), but not after follow-up care (1.67 ± 0.77 vs. 1.75 ± 0.66, p = 0.129). The pulmonary vale area significantly improved in group A (0.89 ± 0.71 vs. 1.16 ± 0.58, p < 0.0001), whereas only insignificant progression of PV stenosis was observed in group B (1.60 ± 0.64 vs. 1.57 ± 0.65, p = 0.110).ConclusionsPatients treated with BPV had a similar exercise capacity with that of patients under follow-up care and the healthy controls. Larger or multi-center studies should be conducted to confirm the physical fitness of pediatric patients with PV stenosis after management.

ObjectiveTo investigate the efficacy and safety of simultaneous percutaneous interventional treatment of atrial septal defects (ASDs) and pulmonary valve stenosis (PS) in children under the guidance of transoesophageal echocardiography (TEE) alone.MethodsEleven children with ASD combined with PS who were treated at our hospital between March 2015 and March 2019 were recruited, including 4 males and 7 females. Preoperative transthoracic echocardiography showed that all patients had type II ASDs of the foramen ovale subtype, with a maximum diameter of 12.9 ± 2.7 mm (9.0–18.0 mm). The guiding principle of septal occluder selection is that the diameter of the occluder should be 2–4 mm larger than the maximum diameter of the ASD. The pressure gradient across the pulmonary valve in patients with PS was 54.7 ± 5.8 mmHg (47.0–64.0 mmHg), and a balloon with a diameter 1.2–1.4 times the diameter of the pulmonary valve annulus was used for dilatation. Effective dilatation was repeated 2–3 times. All children underwent ASD occlusion and PS balloon dilatation through the femoral vein under TEE guidance without radiation or contrast agents. The patients underwent PS balloon dilatation first, followed by ASD occlusion. The treatment effect was evaluated by TEE immediately after the procedure, and the patients were followed up regularly.ResultsAll patients underwent successful simultaneous ASD occlusion and PS balloon dilatation through the femoral vein under the guidance of TEE alone. The pressure gradient across the pulmonary valve immediately after the procedure was 21.3 ± 1.8 mmHg (19.0–25.0 mmHg) (P < 0.01). No shunt was detected at the atrial septum level. The patients were followed for 3.0 ± 1.4 years (1.0–5.0 years) after the procedure. The atrial septal occluders were in the normal position in all of the patients, and there was no arrhythmia, hemolysis, or residual shunting. The pressure gradient across the pulmonary valve at 1 month after the procedure was 18.5 ± 3.3 mmHg (P < 0.01).ConclusionSimultaneous percutaneous interventional treatment of ASD and PS in children under the guidance of TEE alone is not only safe and effective but also prevents trauma caused by extracorporeal circulation and surgical incision and damage caused by X-ray and contrast agents. The surgical sequence included first performing PS balloon dilatation, followed by ASD occlusion.

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. [ABSTRACT FROM AUTHOR]

Background: Pulmonary valve stenosis (PS) is common congenital heart disease in children and patient can present with cyanosis, chest pain, dyspnea and failure with severe form. The objective of this study was to enlighten the short outcome of balloon pulmonary valvuloplasty in children with severe pulmonary stenosis. Methods: This cross sectional observational study was done in paediatric cardiology department of Lady Reading Hosptial, Peshawer form June 2019 to December 2020 over 1.5 years. Children aged 6 months to 16 years of either sex diagnosed as case of severe stenosis with doming pulmonary valve and having symptoms of chest pain and dysnea on exeration and pregradient pressure of 64 mm Hg or more on echocardiography were included. Patients were interviened with ballon-valvuloplasty. Outcome was taken as discharge from hospital with complications after procedure if any. Patients were followed up for 3 months. Data including age, sex, pre cath echocardiography, cath pulmonary valve annulus, post ballooning pulmonary valve (PV) gradient, PV gradient on echocardiography after intervention and follow up gradient on echocardiography at three months was documented. Data was analyzed by SPSS 20. Chi square test and paired T - Test was applied where required. Results were taken as significant with p value <0.05. Results: There were 51 patients, 35 (68.6%) male and 16 (31.4%) female. Mean age was 8.35±4.93 years. Mean pre cath gradient across the pulmonary valve on echocardiography was 109.14±31.44 mm Hg. Post intervention mean pressure gradient across PV was 32.41±11.49 mm Hg. Pulmonary valve annulus on echocardiography before intervention ranged from 7 to 25 mm with mean of 14.67±3.79 mm. There was no complication in majority (82.4%) of patients. Mild PR was in 5 (9.8%) patients. There was significant relationship between pre and post intervention pressure gradient across PV valve with p value of <0.001. Conclusion: Balloon pulmonary valvuloplasty in one of the safest intervention for PS in children with few complications. [ABSTRACT FROM AUTHOR]

Percutaneous balloon pulmonary valvuloplasty (PBPV) is the primary treatment for pulmonary valve stenosis (PVS). The study consisted of 228 children with PVS who underwent PBPV from January 2004 to October 2019 at a single center. The risk factors for ≥moderate pulmonary regurgitation (PR), residual stenosis, and restenosis were analyzed based on the baseline patient characteristics and measured value of corresponding inspection results. Among 228 patients, follow‐up results were obtained in 193 patients. The univariate analysis demonstrated that young age, low weight, small pulmonary annulus diameter, higher initial RV‐PA PSEG, increased RV/systemic pressure ratio, and severe PVS were associated with ≥moderate PR. The multivariate analysis demonstrated that higher initial RV‐PA PSEG and low weight were independently associated with ≥moderate PR, while higher initial RV‐PA PSEG was independently associated with residual stenosis and restenosis. PBPV is a preferred tre atment in PVS children with a higher success rate. Higher initial RV‐PA PSEG was a significant factor for ≥moderate PR, residual stenosis, and restenosis. [ABSTRACT FROM AUTHOR]

Abstract Percutaneous balloon pulmonary valvuloplasty (PBPV) is the primary treatment for pulmonary valve stenosis (PVS). The study consisted of 228 children with PVS who underwent PBPV from January 2004 to October 2019 at a single center. The risk factors for ≥moderate pulmonary regurgitation (PR), residual stenosis, and restenosis were analyzed based on the baseline patient characteristics and measured value of corresponding inspection results. Among 228 patients, follow‐up results were obtained in 193 patients. The univariate analysis demonstrated that young age, low weight, small pulmonary annulus diameter, higher initial RV‐PA PSEG, increased RV/systemic pressure ratio, and severe PVS were associated with ≥moderate PR. The multivariate analysis demonstrated that higher initial RV‐PA PSEG and low weight were independently associated with ≥moderate PR, while higher initial RV‐PA PSEG was independently associated with residual stenosis and restenosis. PBPV is a preferred tre atment in PVS children with a higher success rate. Higher initial RV‐PA PSEG was a significant factor for ≥moderate PR, residual stenosis, and restenosis.

We report the case of a 9-year-old male with severe congenital pulmonary valve stenosis referred to our centre for percutaneous valvotomy. On admission, trans-thoracic echocardiogram confirmed a unicuspid pulmonary valve with a peak/mean pulmonary valve gradient of 91/53 mmHg and a pulmonary annulus of 13.8 mm (-0.8 Z Score). It also showed an enlarged RV (RV/LV ratio 0,9). During cardiac catheterisation, an additional atrial septal defect (secundum) with significant left to right shunt (Qp/Qs > 2) was diagnosed, which was not amenable to percutaneous closure. The patient was referred for surgical repair.The atrial septal defect was closed by a direct running suture. The repair of the unicuspid valve consisted in bicuspidisation by a large commissurotomy to the left anterior wall of the pulmonary artery. The neo-commissure was created with two separate patches of autologous pericardium secured to the wall of the pulmonary root. The adjustment of the effective height of the pulmonary valve leaflets was done by trimming the patches and a triangular plication of the newly created posterior leaflet. Perioperative echocardiogram showed a peak gradient of 15 mm Hg and trivial pulmonary regurgitation. The total cross-clamp time was 92 min and the bypass time 123 min with a favourable evolution after the surgery.The particularity of the case is represented by the complexity of the bicuspidisation procedure. Using this technique, a tailored approach is needed for every patient.