Echocardiography: conotruncal anomaly: a case of common arterial trunk with intact ventricular septum and hypoplastic left heart complex with unbalanced pulmonary stenoses.

We describe the echocardiographic findings of a common arterial trunk with intact ventricular septum, mitral and left ventricular hypoplasia, atretic left ventricular outlet and bilateral, and unbalanced pulmonary artery stenoses.

The Genetics of Canine Pulmonary Valve Stenosis.

There have been recent advancements in understanding the genetic contribution to pulmonary valve stenosis (PS) in brachycephalic breeds such as the French Bulldog and Bulldog. The associated genes are transcriptions factors involved in cardiac development, which is comparable to the genes that cause PS in humans. However, validation studies and functional follow up is necessary before this information can be used for screening purposes.

Congenital ventricular outflow tract obstructions in Boxer dogs: Results of a 17-year cardiovascular breed screening program in France (3126 dogs).

INTRODUCTION: Ventricular outflow tract obstructions including aortic (AS) and pulmonic stenosis (PS) are the most common canine congenital heart diseases, with Boxer dogs being predominantly affected. This has led to the French Boxer club adopting a mandatory national control program against AS and PS. The objective of this retrospective study was to analyze the results of 17 years of this cardiovascular breed screening program (2005-2021). MATERIALS AND METHODS: The records of untreated and non-anesthetized adult Boxer dogs screened between 2005 and 2021 were retrospectively reviewed. All dogs underwent physical examination and standard transthoracic echocardiography with concomitant ECG tracing. All examinations were reviewed by one single board-certified specialist in cardiology. RESULTS: Out of the 3126 dogs screened during the study period, 3001 dogs (female:male sex ratio = 2.2, median age [IQR] = 1.6 years [1.2-2.1]) were recruited for data analysis. A total of 218 operators were involved in the screening program. For most Boxer dogs (i.e., 93.8% for AS and 94.5% for PS), a single examination was required to obtain a definitive cardiac status, although most operators were non-specialist general practitioners. A left basilar systolic heart murmur was detected in all dogs with AS and PS, but also in 7.4% dogs free of heart diseases. A significantly higher proportion of the latter was detected when operators were board-certified specialists (P<0.001). Lastly, when comparing the start and the end of the breeding program, among dogs diagnosed with AS and PS (n = 364) in a French referral cardiology center, Boxer went from the 1st affected breed by AS to the 3rd, and from the 3rd affected breed by PS to the 6th. CONCLUSION: This 17-year screening program has experienced a strong involvement of veterinarians, breeders, and owners throughout France. This may have contributed to reduce AS and PS prevalence in Boxer dogs at the studied referral cardiology center.

[Complex congenital heart disease : about a case of Noonan syndrome]. / Cas clinique. Cardiopathie congénitale complexe : à propos d'un cas de syndrome de Noonan.

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond. At 1 month of age, the child presented hypoxic spells caused by the infundibular stenosis which required emergency aorto-pulmonary anastomosis placement ensuring sufficient pulmonary blood flow. This anastomosis needed to be replaced by a larger one at 9th month of age. The child is now 4 years old and has undergone a complete surgical correction. The multidisciplinary management englobes not only follow up in cardiology, genetics, neurology, ophthalmology and hematology but also feeding support and psychomotor development support. The socio-economic precariousness of the family leads to a constant assistance to allow the best possible development of the child.

Nous présentons le cas d'une fillette chez qui le diagnostic de cardiopathie congénitale de type ventricule droit à double issue avec communication interventriculaire, sténose infundibulaire et valvulaire pulmonaire sévères a été posé en période fœtale. Le bilan génétique a montré la présence d'une mutation du gène LZTR1, confirmant le diagnostic d'un syndrome de Noonan que présentent également la maman et une sœur aînée. L'enfant naît prématurément à 34 semaines et 5 jours d'aménorrhée. La période néonatale est marquée par des difficultés alimentaires liées à des troubles de l'oralité exacerbés par un attachement mère-enfant compromis. à l'âge de 1 mois, l'enfant présente des malaises hypoxiques en raison de la sténose infundibulaire nécessitant la mise en place en urgence d'une anastomose aorto-pulmonaire assurant un débit pulmonaire suffisant, anastomose qui devra être remplacée par une plus large à l'âge de 9 mois. La fillette actuellement âgée de 4 ans vient de bénéficier d'une cure chirurgicale complète. Le suivi multidisciplinaire comprend, outre les suivis cardiologique et génétique, le support à l'alimentation entérale, le suivi neurologique, ophtalmologique et hématologique ainsi que le soutien à la psychomotricité. La précarité psycho-socio-économique familiale nécessite une aide constante pour permettre à l'enfant d'évoluer favorablement dans son milieu familial.

An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review.

Williams syndrome (WS) is a rare congenital developmental disorder caused by the deletion of between 26 and 28 genes on chromosome 7q11.23. For patients with WS, in view of the particularity of the supravalvular aortic stenosis, choosing appropriate arterial cannula, maintaining higher perfusion pressure as well as strengthening myocardial protection during cardiopulmonary bypass (CPB) is essential to the clinical outcome. Here, we report a child with pulmonary artery valvular stenosis who failed to wean off CPB because of malignant arrhythmias and cardiac insufficiency after surgical correction of pulmonary valvular stenosis. With the assistance of extracorporeal membrane oxygenation (ECMO), emergency cardiac catheterization revealed supravalvular aortic stenosis (SVAS), which suggests a suspected missed diagnosis of WS. Finally, under the support of ECMO, the cardiac function gradually returned to normal, and the child was discharged 23 days after surgery.

3q29 microdeletion syndrome associated with developmental delay and pulmonary stenosis: a case report.

BACKGROUND: 3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen. CASE: A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome. CONCLUSIONS: In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases.

Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.

BACKGROUND: Valvar pulmonary stenosis (vPS) accounts for 8% to 12% of congenital heart disease cases. Multiple genetic syndromes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases. We analyzed genomic data from a large cohort with vPS to determine the prevalence of genetic diagnosis. METHODS: The Pediatric Cardiac Genomics Consortium database was queried to identify probands with vPS without complex congenital heart disease or aneuploidy and with existing whole exome or genome sequencing. A custom analysis workflow was used to identify likely pathogenic or pathogenic variants in disease-associated genes. Demographic and phenotypic characteristics were compared between groups with and without molecular diagnoses. RESULTS: Data from 119 probands (105 trios) were included. A molecular diagnosis was identified in 22 (18%); 17 (14%) had Noonan syndrome or a related disorder. Extracardiac and neurodevelopmental comorbidities were seen in 67/119 (56%) of probands. Molecular diagnosis was more common in those with extracardiac and neurodevelopmental phenotypes than those without (18/67 versus 4/52, P=0.0086). CONCLUSIONS: Clinicians should have high suspicion for a genetic diagnosis in individuals with vPS, particularly if additional phenotypes are present. Our results suggest that clinicians should consider offering sequencing of at least the known congenital heart disease and RASopathy genes to all individuals with vPS, regardless of whether that individual has extracardiac or neurodevelopmental phenotypes present.

Absent pulmonary valve with double-outlet left ventricle: a case report.

Absent pulmonary valve syndrome and double-outlet left ventricle are rare congenital anomalies, with, to the best of our knowledge, no cases reported to date. We present the treatment course in a patient with an absent pulmonary valve, double-outlet left ventricle, dextrocardia, hypoplastic right ventricle, valvular aortic stenosis, and bronchomalacia.

Right axis deviation in the canine electrocardiogram for predicting severity of pulmonic stenosis: a retrospective cohort analysis.

OBJECTIVE: To investigate the predictive value of right axis deviation of the mean electrical axis (MEA) in assessing the severity of pulmonic stenosis (PS) in dogs. ANIMALS: Records for 218 client-owned dogs diagnosed between 2014 and 2020 with PS as determined by Doppler echocardiography. PROCEDURES: University of Florida Small Animal Clinic medical records were reviewed, and signalment and clinical risk variables (murmur grade and clinical signs) were extracted. MEA was determined from ECG records by use of leads I and III. Predictive potential of MEA and associated risk factors to diagnose PS severity (mild [< 50 mm Hg], moderate, or severe [> 75 mm Hg]) were assessed by receiver-operating characteristic curve analysis and quantile regression. RESULTS: Records for 88 dogs were eligible for analysis. Greater PS severity was associated with smaller breeds presenting with ECG abnormalities, overt clinical signs, and high-category murmur grades (IV and V). Mean MEA increased with stenosis severity category, with an average of 62° for mild, 113° for moderate, and 157° for severe. Each 10° increase in MEA corresponded to an approximately 5-mm Hg increase in PG. Increasing PS severity was associated with MEA right axis deviation > 100° and the more severe cases (PG > 75 mm Hg) with MEA right axis deviation > -180°. CLINICAL RELEVANCE: Mean electrical axis right axis deviation may be a useful screening metric for dogs with suspected moderate to severe PS.

Isolated ventricular inversion with hypoplastic right ventricle and pulmonary stenosis in an adolescent with situs solitus: a rare combination.

Isolated ventricular inversion with situs solitus is a severe and rare congenital cardiac malformation characterised by an atrioventricular discordance but with ventriculo-arterial concordance. Here, we present the rare case of an adolescent with isolated ventricular inversion and hypoplasia of the left-sided morphological right ventricle and pulmonary stenosis, a first of its kind to be reported in the literature.

Is there any relationship between biomarkers and echocardiographic markers in patients with pulmonary stenosis underwent balloon valvuloplasty?

BACKGROUND: Congenital pulmonary stenosis (PS) is a progressive disease. Balloon pulmonary valvuloplasty (BPV) is the treatment of choice in valvular PS. AIM: We aim to study the relationship between biomarkers and echocardiographic markers in valvular PS and to assess the impact of BPV on these markers. PATIENTS AND METHODS: Patients with moderate and severe valvular PS amenable for BPV were recruited. Serum troponin I was measured. Echocardiographic assessment of PS and right ventricular (RV) function was done. All patients underwent BPV. Troponin level and echocardiographic data were re-assessed 2 weeks and 6 months after BPV. RESULTS: Fifty patients with valvular PS were recruited. There was significant correlation between peak SPG and troponin (P < .001). Troponin was significantly decreased 2 weeks after BPV. Similarly, there was an initial improvement in RV function. After 6 months of follow-up, we divided patients into two groups: Group A: 36 patients with no restenosis. Group B: 14 patients with restenosis. There were high significant differences between both groups regarding troponin level and RV functions with re-elevated troponin in Group B that correlated with peak PG (r = .9, P < .001). RV function parameters in Group B became significantly worse 6 months after BPV than those after the initial 2 weeks. CONCLUSION: Troponin correlates with the severity of PS and associates with RV dysfunction. Both troponin and RV functions improved with BPV. Recurrent elevation of troponin and impairment of RV function is associated with PV restenosis and could be set as an indication for repeated balloon dilatation of PV.

Transcatheter pulmonary balloon valvuloplasty of severe valvar pulmonary stenosis and atrial septal defect in patient with severe cyanosis and very low ventricle ejection fractions: a bailout procedure.

Most cases of severe or critical pulmonary stenosis are detected early and interventional management is routine within the first days of life. We present a case of a thirteen-year-old boy diagnosed with pulmonary stenosis and atrial septal defect with low ventricle ejection fraction. The patient underwent staged pulmonary balloon valvuloplasty and interventional atrial septal defect closure with good results.

Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis.

INTRODUCTION: Balloon Valvuloplasty is the first-line treatment for congenital valve pulmonary stenosis (PS) in children and adults. METHODS: We reported immediate results of balloon valvuloplasty in congenital pulmonary stenosis from 2014 to 2019. RESULTS: BPV was performed in 40 patients, the diagnosis was based on cardiac ultrasound data showing valvular dysplasia in 92% of cases, the main associated anomaly is FOP in 22.5% of cases,  immediate success (defined by a peak-to-peak gradient after the DPPC of less than 50mmHg) was found in 88% of cases, allowing a significant reduction in mean  peak to peak pressure among pulmonary valve  from 69.65mmHg to 30.19mmHg. After BV 11% of patients maintained a high gradient, the independent predictive factors were valvular dysplasia and the small diameter of the ring an immediate post procedural infundibular reaction was noted in 25% of cases mainly related to valvular dysplasia. The mortality of the procedure was zero and morbidity was low. mild pulmonary regurgitation was found in all patients. CONCLUSION: PV has been established as the treatment of choice for valvular PR with few complications. Following its satisfactory immediate results, the indications quickly extended to critical pulmonary stenosis in newborns and late discovery forms in adults.

Balloon Valvuloplasty via the Pulmonary Artery Trunk for Treating Neonates With Severe Pulmonary Valve Disease.

BACKGROUND: Percutaneous balloon pulmonary valvuloplasty has proven to be a standard of care for neonates with severe pulmonary valve disease. However, the peripheral vessel injury, tricuspid chordae tendineae rupture, and cardiac tamponade could occur. Recently, we performed balloon valvuloplasty through pulmonary artery trunk. To date, the obtained outcome was promising. METHODS: Between January 2018 and December 2018, three neonates with critical pulmonary stenosis and two with membranous pulmonary atresia with intact ventricular septum were enrolled in our center. Balloon valvuloplasty through pulmonary artery trunk was performed in all patients. A 2-cm parasternal incision was made in the left third intercostal space. A guidewire was used to advance or perforate the pulmonary valve from the pulmonary artery trunk into the right ventricle, followed by balloon dilation of the valve. RESULTS: The procedure was successful in all patients. The oxygen saturation increased immediately after the balloon dilation, while the right ventricular systolic pressure and the gradient across the pulmonary valve decreased. No severe complications occurred. CONCLUSIONS: Balloon valvuloplasty through the pulmonary artery trunk is a safe and feasible alternative procedure. Thus, it could serve as a supplementary choice for treating severe pulmonary valve disease.

Supravalvular and Valvular Pulmonary Stenosis: Predictive Features and Responsiveness to Percutaneous Dilation.

Supravalvular pulmonary stenosis (SVPS) is considered a rare form of pulmonary stenosis (PS) and represents both a diagnostic and therapeutic challenge. There currently exist no reliable echocardiographic criteria to accurately predict the supravalvular form. The aims of the study were to describe the response to treatment of the different PS presentations and to outline the diagnostic capacity of echocardiogram to differentiate the SVPS from valvular PS (VPS). This retrospective study included 106 patients who underwent percutaneous angioplasty between 2006 and 2017. Interventional outcomes of patients with SVPS were compared to those of patients with VPS. Diagnosis of VPS vs. SVPS by echocardiogram was compared to diagnosis obtained by angiogram. Echocardiogram yielded a sensitivity of 56%, a specificity of 82.5%, a positive predictive value of 50%, and a negative predictive value of 85.7%. Patients with SVPS had a significantly smaller pulmonary artery to pulmonary valve (PA:PV) ratio. At 6-12 months of follow-up, the VPS group had a mean right ventricular to pulmonary artery (RV-PA) gradient of 21.68 ± 19.85 mmHg compared to 45.27 ± 24.58 mmHg in the SVPS group. Patients with SVPS had a higher rate of reintervention than patients with VPS (32% vs. 6.2%, p < 0.001). There was no difference in major complications between groups, whereas VPS patients had a higher proportion of pulmonary insufficiency. Percutaneous angioplasty for PS is less effective in patients with a supravalvular component. A better understanding of the underlying histopathology of different PS subtypes could lead to development of different techniques to improve outcomes, with fewer reinterventions, in this population.

Imperforate cor triatriatum dexter with patent foramen ovale and pulmonic stenosis in three dogs: Diagnostic findings and attempted surgical correction.

Three canines were identified with aberrant drainage of the caudal vena cava to the left atrium, consistent with imperforate cor triatriatum dexter, and concurrent patent foramen ovale. All three had concurrent significant pulmonic stenosis with varying degrees of hypoplasia of the right ventricular outflow tract. Echocardiography, positive contrast studies, and angiography confirmed the diagnosis. Surgical redirection of the caudal vena cava bloodflow to the right atrium was attempted unsuccessfully in two symptomatic patients. The third patient was asymptomatic, and correction was not attempted. Possible embryologic causes and possible approaches in future cases are discussed.

Surgical management for an adult, female patient, with Ebstein Anomaly on Tricuspid Valve that has Subvalvular membrane with severe PS and multiple VSDs-A case report.

Ebstein's anomaly is a rare and complexed heart defect that affects the tricuspid valve and is accountable for around 1% of congenital cardiac abnormalities. It is one of the most common congenital causes of tricuspid valve regurgitation. Ebstein's anomaly is often diagnosed prenatally due to its severe cardiomegaly. Some individuals with this anomaly do not experience any complications until adulthood and even then its mostly minor complaints like exercise intolerance.  Atrial septal defect is most commonly (70-90%) associated with Ebstein's anomaly. However, ventricular septal defect (VSD) can be associated with 2-6% of the cases. This particular report presents a case of surgical intervention for a 20 years old female with Ebstein's anomaly that had multiple VSD's and a severe Pulmonary Stenosis (PS).