Pulmonary Valve Stenosis Research Articles

959 AN UNEXPECTED DIAGNOSIS BY ECHOCARDIOGRAPHY: APPLICATION IN CLINICAL PRACTICE

Abstract A carcinoid tumore is a rare neuroendocrinologic malignancy that commonly origins from enterochromaffin or Kulchitsky cells in the gastrointestinal tract and secretes bioactive molecules in blood. Up to 60% of patients with carcinoid tumors have cardiac involvement, often on the right-sided heart valves (typically the tricuspid valve and the pulmonic valve). A 66 year old woman was admitted to hospital with congestive heart failure, chronic diarrhea and weight loss. A contrast-enhanced computed tomography scan of the liver showed multiple masses (the largest 70 mm×45mm) compatible with metastases. A transthoracic echocardiogram showed dilatation of right sections of the heart with severe tricuspid regurgitation (RV 64 ml/beat, ERO 1 cmq) and mild pulmonary valve stenosis (Peak gradient 13 mmHg). Patient's aortic and mitral valves were normal in structure and function. The EKG revealed low-voltage QRS complexes of all leads, unspecific ST segment changes and sinusal rhythm. The blood tests showed a significant increase in chromogranin A (17670 ng/ml) and enolase; a 24-hour urine collection showed a total output of 5-hydroxyindoleacetic acid eleveted. A biopsy of the liver with immunostaining for chromogranin and synaptophysin were strongly positive and confirmed the diagnosis of metastatic carcinoid syndrome (grade 1, cells CDX2 positive). The echocardiographic findings of carcinoid heart disease is drumstick-like, rigid, and shortened leaflets with a visible regurgitant orifice, causing torrential tricuspid regurgitation. The pulmonic valve presents more frequently valvular stenosis. A combination of biomarkers and cardiac imaging is useful in screening and diagnosis of carcinoid heart involvement in patients with carcinoid syndrome. The management of carcinoid heart disease is hardful and requires a multidisciplinary approach, medical and surgical treatment, for optimized care.

Percutaneous balloon valvuloplasty in a pregnant patient with pulmonary bioprosthetic valve stenosis

Percutaneous balloon valvuloplasty in a pregnant patient with pulmonary bioprosthetic valve stenosis

Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery.

Children with Alagille syndrome often have complex forms of congenital heart defects with the majority having peripheral pulmonary artery stenosis (PPAS) and pulmonary valve atresia (PA) or stenosis (PS). Children with Alagille syndrome also have variable amounts of liver dysfunction. The purpose of this study was to evaluate the impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery. This was a retrospective review of 69 patients with Alagille syndrome who underwent congenital heart surgery at our institution. The underlying diagnoses included PPAS (n=29), tetralogy of Fallot with PPAS (n=14), tetralogy with PA (n=3), PA with ventricular septal defect and major aortopulmonary collateral arteries (n=21), and one each with D-transposition and supravalvar aortic stenosis. The median age at surgery was 16 months (range 0-228 months). Procedures performed included PPAS repair (n=43), tetralogy with PA repair (n=3), unifocalization procedures (n=21), and other (n=2). Forty-two (61%) patients had mild or no liver dysfunction, while 26 (38%) had moderate or severe liver dysfunction. Median cardiopulmonary bypass time was 345 minutes (341with liver dysfunction, 345 without liver dysfunction). There were a total of 8 operative (12%) deaths and 3 late (4%) deaths. Six operative and two late deaths occurred in patients with liver dysfunction (combined 30.7%) versus two operative and one late death (combined 7.1%) for patients without liver dysfunction (p < 0.05). These results suggest that liver dysfunction has a profound impact on survival in children with Alagille syndrome undergoing congenital heart surgery.

Pulmonary Valve Pressure Gradient in Pulmonary Stenosis: Before and After Balloon Valvuloplasty

Pulmonary valve stenosis is common among other congenital heart diseases. The need to treat the stenosis was based on the presence of symptomatic signs. Balloon valvuloplasty is commonly used because it is less invasive than surgery. However, the study about decreased pressure gradient in pulmonary stenosis after balloon valvuloplasty was still limited. Thus, this article review aimed to see how much the reduction of pressure gradient after balloon valvuloplasty in pulmonary stenosis. The search engine used in this study was PubMed, then the articles were selected according to PICO (population, intervention, comparison, and outcomes). Only articles containing data about patients with pulmonary stenosis who underwent balloon valvuloplasty and comparing before and after mean pressure gradients to see the outcomes after balloon valvuloplasty was included in this literature review. The mean of pressure gradient from all the data before treatment was grouped into <50mmHg, 50 - 80 mmHg, >80 mmHg, then we combined the mean, and the result was 42.28 mmHg 77.43 mmHg 92.62 mmHg, respectively. The mean after treatment was also grouped into <50mmHg, 50 – 80 mmHg, >80 mmHg, and the result were 12.96mmHg 26.78mmHg 30.65mmHg, respectively. The reduction in gradient pressure was more than 50% in all groups. Thus, balloon valvuloplasty is an efficient treatment for pulmonary stenosis.

The heart in RASopathies.

The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping cardiovascular anomalies, although less common cardiac defects can occur. The identification of the causative genetic variants has enabled the recognition of specific correlations between genotype and cardiac phenotype. Characterization and understanding of genotype-phenotype associations is not only important for counseling a family of an infant with a new diagnosis of a RASopathy condition but is also critical for their clinical prognosis with respect to cardiac disease, neurodevelopment and other organ system involvement over the lifetime of the patient. This review will focus on the cardiac manifestations of the most common RASopathy syndromes, the relationship between cardiac defects and causal genetic variation, the contribution of cardiovascular abnormalities to morbidity and mortality and the most relevant follow-up issues for patients affected by RAS/MAPK pathway diseases, with respect to cardiac clinical outcomes and management, in children and in the adult population.

Abstract 15341: Persistent Fifth Arch as an Aortopulmonary Connection in a Case of Tetralogy of Fallot

Persistent fifth aortic arch is a heterogeneous vascular anomaly with variable anatomical presentations and physiological consequences. This unusual embryological remnant represents a management challenge, particularly in critical right sided obstructive heart lesions where accurate delineation of sources of pulmonary blood flow is essential. This is a newborn 2 kg premature male born at 34 weeks of gestation with prenatally diagnosed tetralogy of Fallot. Post-natal echocardiogram confirmed diagnosis with evidence of moderate-to-severe pulmonary stenosis, restrictive ventricular septal defect, and a right aortic arch. CT angiogram ordered to delineate the head and neck vessel anatomy showed an exceedingly rare finding of an isolated connection of the left subclavian artery (LSCA) to the main pulmonary artery (MPA) via a left sided ductus arteriosus. Blood flowed from the common carotid arteries, through the circle of Willis, and, in a retrograde direction, into the LSCA. Prostaglandin E was initiated due to concern for ductal dependent pulmonary blood flow, but after clinical observation it was discontinued without subsequent onset of cyanosis. Repeat echocardiograms were reassuring in showing persistence of the left ductus arteriosus. The patient was discharged home at 5 weeks-old and at 4 months-old he underwent complete repair after developing progressive desaturations and worsening sub-valvar and valvar pulmonary stenosis. The surgical repair included ventricular septal defect closure, transannular patch, extensive right ventricular myomectomy and reimplantation of LSCA onto the left common carotid artery. The post-operative course was uncomplicated. This rare case of persistent fifth aortic arch with retrograde flow to the LSCA demonstrates the complementary roles of noninvasive imaging modalities in guiding medical therapy and surgical management. This unusual blood flow pattern and initial concern for duct dependent pulmonary blood flow complicated early management, but a conservative approach with repeat imaging allowed for eventual complete repair.

Abstract 15551: Pulmonary Hypertension in Patients With Noonan Syndrome Undergoing Cardiac Catheterization

Introduction: Noonan syndrome (NS) is an autosomal dominant genetic disorder associated with a high incidence of cardiovascular disease. We sought to investigate pulmonary hypertension (PH) in patients with NS, as well as characterize the hemodynamics, cardiovascular interventions, genetics, and transplant-free survival. Methods: A retrospective, descriptive cohort study was conducted among patients with NS who underwent cardiac catheterization at Boston Children’s Hospital between 2000 and 2020. Patient demographic, clinical, and hemodynamic data were collected for cohorts of patients with and without PH. Results: Eight-seven patients with Noonan syndrome underwent cardiac catheterization in the study period. Fifty-nine (68%) patients had a NS-associated pathogenic variant, while 28 (32%) had a clinical diagnosis of NS. Eleven (13%) patients had PH by 6 th World Symposium on Pulmonary Hypertension criteria: two patients with Group 1 Pulmonary Arterial Hypertension (PAH), seven Group 2 PH, and two Group 4 PH. There were significant differences in NS-associated causative gene in patients with and without PH, with RAF1 (p=0.013) and KRAS1 (p=0.015) more common among PH patients. A clinical diagnosis of hypertrophic cardiomyopathy (p=0.009) was more common in PH patients, while valvar, subvalvar, or supravalvar pulmonary stenosis (p=0.011) was less common. PH patients were significantly more likely to have aortic-valve interventions (p=0.025) and less likely to have valvar right-sided heart interventions (p=0.037). Transplant-free survival at five years was lower in the PH group (73%) compared to the non-PH group (99%). Conclusion: In a cohort of patients with Noonan syndrome undergoing cardiac catheterization, we noted differences among those with and without PH for NS-associated causative gene, associated hypertrophic cardiomyopathy or structural heart disease, interventions, and transplant-free survival. The prevalence of PH among this population demonstrates the need for future studies on the association between NS and pulmonary vascular disease.

CLINICAL RESULTS OF BALLOON PLASTY OF PULMONARY ARTERY VALVE IN BULLDOG DOGS

The paper presents the results of a clinical and experimental study to determine the clinical efficacy of surgical treatment of animals with pulmonary artery valve stenosis using balloon plasty. The study was retrospective, animals were evaluated from 2018 to 2020, and the morphofunctional state of the cardiovascular system was assessed before and after surgery. The total sample consisted of 15 animals. Diagnosis of this defect was performed auscultatively and by echocardiography [ultrasound]. On auscultation systolic murmur was heard in all animals. Echocardiography evaluated the geometry and function of the right heart, as well as velocity and gradient on the pulmonary artery valve. All animals were diagnosed with congenital heart defect: pulmonary artery valve stenosis. After diagnosis, each dog underwent balloon plasty of the pulmonary artery valve. No animal died during and after surgical intervention. All animals were discharged on the day of surgery for outpatient treatment. There were no postoperative complications. Maintenance and feeding remained unchanged at all times. All animals became more active after the operation, clinical signs of the disease, if any, were resolved or reduced markedly. One month later, repeated echocardiography was performed to evaluate the pulmonary artery valve velocity and gradient. In one animal we observed increased flow velocity on the pulmonary artery valve, which was associated with increased systolic function after surgery. In the remaining dogs, a decrease in velocity and pressure gradient at the pulmonary artery valve was noted. -

Embolization of Aortopulmonary Collateral Artery Cooperate with Valved Conduit Attached to the Right Ventricular Outflow Tract for Patient After Tetralogy of Fallot Repair: A One-Stop Procedure.

We describe a one-stop procedure for aortopulmonary collateral artery (APCA) and postoperative complications of Tetralogy of Fallot (TOF). Postoperative complications of TOF include right ventricular outflow tract stenosis, pulmonary valvular annular stenosis, pulmonary regurgitation, and aortopulmonary artery stenosis. The one-stop procedure was defined as after APCA embolization. The heart continued to function under cardiopulmonary bypass during median sternotomy to reconstruct the right ventricular outflow tract with a valved conduit and replace the aortopulmonary artery. A biological valved was sewed within the valved conduit in an artificial blood vessel in vitro and subsequently was used in the procedure and achieved significant results.

Outcome of Balloon Valvuloplasty in Children with Pulmonary Valve Stenosis – Multi-Center Experience

Outcome of Balloon Valvuloplasty in Children with Pulmonary Valve Stenosis – Multi-Center Experience

Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome

Infants with Noonan Syndrome and hypertrophic cardiomyopathy have a poor prognosis and a high mortality especially when diagnosed before six months of age. As for the majority of the RASopathies, no medical treatment has been approved for Noonan Syndrome. Meanwhile, several approved agents targeting the same RAS/MAPK signaling pathway are used in cancer treatment. In this case report we describe a child with Noonan Syndrome caused by a pathogenic RIT1 variant, who developed severe early-onset hypertrophic cardiomyopathy and pulmonary valve stenosis. She received off-label treatment with the MEK-inhibitor trametinib which resulted in complete remission of the cardiac hypertrophy and a significant improvement of the pulmonary valve stenosis. Our case emphasizes the potential of existing cancer agents targeting the RAS/MAPK signaling pathway as successful treatment for RASopathy manifestations.

Extremely severe quadricuspid pulmonary valve stenosis treated by percutaneous balloon valvuloplasty.

Extremely severe quadricuspid pulmonary valve stenosis treated by percutaneous balloon valvuloplasty.

OC01.07: Development of a diagnostic model for fetal pulmonary valvular stenosis by myocardial strain combined with multiple ultrasonic parameters

OC01.07: Development of a diagnostic model for fetal pulmonary valvular stenosis by myocardial strain combined with multiple ultrasonic parameters

Accuracy of new transthoracic 3D echocardiographic automated algorithm for right ventricle quantification in children with congenital heart disease

Management of many congenital heart diseases (CHD) depends on right ventricle (RV) assessment for which cardiac magnetic resonance (CMR) remains the gold standard. The objective of this study was to assess feasibility and reproducibility of a new semi-automated algorithm to quantify RV (4D auto RVQ) from 3D transthoracic echocardiography (3D TTE) in a pediatric population, and to compare measurements with those obtained from CMR. In all, 90 infants were prospectively included (age 7.5 years, 3–18). Fifteen healthy infants and 75 patients with CHD (30 repaired TOF, 25 ASD, 8 dilated pulmonary valve stenosis, 7 tricuspid regurgitation, 3 APVR, and 2 repaired TAC). All patients underwent 2D and 3D TTE (Vivid E95, GE Healthcare). RV end-diastolic volume (RVEDV), RV end-systolic volume (RVESV), RV ejection volume (RVEV) and RV ejection fraction (RVEF) were analyzed by 4D auto RVQ and compared with measurements from 18 patients who underwent CMR exams for the follow up of their cardiopathy. 4D auto RVQ was feasible in 87 infants (96.7%). In 3 patients 4D auto RVQ was unable to detect RV contouring due to inadequate image quality. Manual contour adjustment was necessary in 81 cases (80%). Mean time of analysis including the time of manual adjustment was 62 seconds. RV was enlarged in 65 of 75 patients with CHD (mean 95 ml/m 2 , 62–165 ml/m 2 ). Good correlation for RVEDV, RVESV, RVEV and RVEF was found between 4D auto RVQ and CMR (r = 0.89–0.99, all P < 0.0001). 4D auto RVQ underestimated RVEDV/BSA of 8 ml/m 2 and RVEF by 6%, and overestimated RVESV/BSA of 9 ml/m 2 . Intraobserver and interobserver variability were low (4.7% and 8.9% respectively) ( Fig. 1 ). 4D auto RVQ is a promising tool for assessment of RV volume and function in children. Such simple and non-invasive exam could reduce the practice of CMR imaging during the follow up of children with CHD.

Long-term results of balloon pulmonary valvuloplasty in pediatric age group in surgical specialty teaching hospital/cardiac center/Hawler

Congenital valvular pulmonary stenosis accounts for 5-10% of all congenital heart disease. Balloon pulmonary valvuloplasty is a safe and effective method in reduction of moderate to severe valvular pulmonary stenosis. This retrospective study done in Hawler surgical specialty cardiac center on pediatric patients who had pulmonary valve stenosis (with echocardiographic peak gradient 2:50mmHg) and treated by balloon pulmonary valvuloplasty. A total of 178 cases were involved, 93(52.25%) patient was male and 85 (47.75%) patients was female. 160 patient (89.89%) were treated with single balloon method 18 patient (10.11%) were managed by double balloon method technique. Follow up period of these patients range from 1 year to 10 years (mean of 5.5 year). In 153 patients (85.96%) pressure across pulmonary valve were below 36 mm Hg, while in 21 (11.80%) pressure gradient across pulmonary valve were (36-50 mm Hg). Four (2.24%) patients had pressure gradient across pulmonary valve more than 50 mm Hg. Forty patients (22.47%) developed mild pulmonary valve regurgitation, while 20 patient (11.24%) developed significant pulmonary valve regurgitation. Balloon pulmonary valvuloplasty provides long-term relief of pulmonary valvular obstruction in the majority of pediatric patients. The long-term results are favorable.

Role of computed tomography in transcatheter replacement of ‘other valves’: a comprehensive review of preprocedural imaging

Transcatheter procedures for heart valve repair or replacement represent a valid alternative for treating patients who are inoperable or at a high risk for open-heart surgery. The transcatheter approach has become predominant over surgical intervention for aortic valve disease, but it is also increasingly utilized for diseases of the 'other valves', that is the mitral and, to a lesser extent, tricuspid and pulmonary valve. Preprocedural imaging is essential for planning the transcatheter intervention and computed tomography has become the main imaging modality by providing information that can guide the type of treatment and choice of device as well as predict outcome and prevent complications. In particular, preprocedural computed tomography is useful for providing anatomic details and simulating the effects of device implantation using 3D models. Transcatheter mitral valve replacement is indicated for the treatment of mitral regurgitation, either primary or secondary, and computed tomography is crucial for the success of the procedure. It allows evaluating the mitral valve apparatus, the surrounding structures and the left heart chambers, identifying the best access route and the landing zone and myocardial shelf, and predicting obstruction of the left ventricular outflow tract, which is the most frequent postprocedural complication. Tricuspid valve regurgitation with or without stenosis and pulmonary valve stenosis and regurgitation can also be treated using a transcatheter approach. Computer tomography provides information on the tricuspid and pulmonary valve apparatus, the structures that are spatially related to it and may be affected by the procedure, the right heart chambers and the right ventricular outflow tract.

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.

Craniofacial dysmorphism and PS prevail among pathogenic variant positive compared to pathogenic variant negative NS and NS-like patients while neurological defects are less common in PTPN11-affected NS patients compared to patients harbouring pathogenic variants in other genes. The significant prevalence of the Ras/MAPK pathogenic variants (17.4%), other than PTPN11, in Greek NS patients, highlights the necessity of a wider spectrum of molecular diagnosis. •Noonan syndrome (NS) has been associated with pathogenic variants in molecules-components of the Ras/MAPK pathway. • Clinical and genetic description of NS patients worldwide helps establishing personalized monitoring. •NS and NS-like mutational rate in Greece reaches 50% with pathogenic variants identified mostly in PTPN11 (32.5%), RIT1 (6%) and SOS1 (4.7%) genes. • The risk for pulmonary stenosis increases 6.71-fold in NS patients with a pathogenic variant compared to patients without genetic alterations.

Role of Echocardiography in Catheter Interventions for the Right Ventricular Outflow Tract

The treatment strategies and timing of corrective or palliative procedures for patients with right ventricular outflow tract (RVOT) obstruction vary depending on the lesion and also on the severity of the patient's symptoms. A wide variety of right heart obstructive lesions ranging from severe valvar pulmonary stenosis, pulmonary atresia with intact ventricular septum, and tetralogy of Fallot can be treated effectively with corrective or palliative interventions in the catheterization laboratory. Interventional procedures to relieve right ventricular outflow obstruction and/or to augment antegrade pulmonary blood flow include balloon pulmonary valvotomy, pulmonary valve perforation, and RVOT stenting. In all these interventions, echocardiography plays an essential role, not only in the preprocedural assessment and case selection but also during the actual procedure in the catheter laboratory. With proper use, a transthoracic echocardiogram can minimize radiation exposure, help in stent positioning in the RVOT, and even detect complications instantaneously. This manuscript reviews the role of echocardiography in transcatheter interventions of the RVOT.

Abnormalities of External Jugular Veins in Bulldogs with Pulmonary Valve Stenosis

Simple SummaryThis case series is about two French bulldogs and one English bulldog affected by pulmonary valve stenosis that were diagnosed with different abnormalities of the external jugular veins (EJV) before a pulmonary balloon valvuloplasty. The EJV abnormalities encountered were severe hypoplasia of both external jugular veins and right external jugular vein absence, associated with persistent left cranial vena cava. All cases were diagnosed through computed tomography and vascular ultrasound. The aim of this case series is to describe external jugular veins abnormalities that can affect the decision-making process regarding central venous catheterization needed to perform procedures such as pulmonary balloon valvuloplasty or central catheter placement. Based on the results of the present case series, anomalies of the external jugular veins should be considered in French and English bulldogs when the external jugular veins cannot be clinically identified or when echocardiography shows coronary sinus dilation. Vascular ultrasound or computed tomography may help identify jugular venous anomalies and should be considered in the preoperative evaluation of bulldogs that need to undergo interventional procedures requiring transjugular catheterization.Two French bulldogs and one English bulldog affected by pulmonary valve stenosis and referred for pulmonary balloon valvuloplasty were diagnosed with different abnormalities of the external jugular veins. The diagnosis included unilateral absence of the right external jugular vein and bilateral hypoplasia of the external jugular veins, associated with persistent left cranial vena cava. Vascular ultrasound and computed tomography were used for the diagnosis. Jugular vein anomalies can affect decision-making regarding the central venous catheterization needed to perform procedures such as pulmonary balloon valvuloplasty or central catheter placement. Based on the results of the present case series, anomalies of external jugular veins should be considered in French and English bulldogs when the external jugular veins cannot be palpated or when echocardiography shows coronary sinus dilation. Vascular ultrasound or computed tomography may help identify jugular venous anomalies and should be considered in the preoperative evaluation of bulldogs that need to undergo interventional procedures requiring transjugular catheterization.

Pulmonary valve preservation during tetralogy of Fallot repair: midterm functional outcomes and risk factors for pulmonary regurgitation.

Many centres have recently adopted pulmonary valve (PV) preservation (PVP) during tetralogy of Fallot (ToF) repair. We sought to identify the midterm functional outcomes and risk factors for pulmonary regurgitation after this procedure. All patients undergoing PVP during transatrial-transpulmonary repair for ToF with PV stenosis at our institution between January 2007 and December 2020 were reviewed. Overall, 73 patients were included. At the index surgery, the body surface area was 0.31 ± 0.04 m2, the age was 4.9 ± 2.9 months and the preoperative PV z-score was -3.02 ± 1.11. At a mean follow-up of 5.3 ± 2.7 years, the fractional area change of the right ventricle (RV) was 47.1 ± 5.2%, and the tricuspid annular plane systolic excursion z-score was -3.31 ± 1.89%. The 5-year freedom from moderate/severe PV regurgitation was 61.3% [95% confidence interval (CI): 48, 73%]. There was a significant correlation between RV function and moderate/severe PR at follow-up (R2: 0.08; P = 0.03). A comparison with a group of patients undergoing a transannular patch procedure (N = 33) showed superior outcomes for patients with PVP. The preoperative PV z-score and the degree of PR at discharge were risk factors for the early development of moderate/severe PR at follow-up [hazard ratio (HR): 0.64; 95% CI: 0.48, 0.86, P = 0.01 and HR: 2.31; 95% CI: 1.00, 5.36, P = 0.04, respectively]. A preoperative PV annulus z-score ≤ -2.85 was found to be predictive for moderate/severe PR at 5 years after PVP (HR: 2.56; 95% CI: 1.31, 5.01, P = 0.002). A pulmonary valve preservation strategy during tetralogy of Fallot repair should always be attempted. However, a preoperative PV annulus z-score < -2.85 and moderate/severe regurgitation upon discharge are risk factors for midterm pulmonary regurgitation.