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.

Cardiac features of Noonan syndrome in Japanese patients.

BACKGROUND: Cardiovascular disease is one of the most important problems in long-term follow-up for Noonan syndrome. We examined cardiovascular issues and clinical manifestations, with a focus on the cardiovascular disease and prognosis of patients with Noonan syndrome. METHODS: This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome. RESULTS: Forty-three patients diagnosed with Noonan syndrome were analysed. The most prevalent responsible mutation was found in PTPN11 (25/43). The second and third most prevalent causative genes were SOS1 (6/43) and RIT1 (5/43), respectively, and 67.4% of genetically diagnosed patients with Noonan syndrome had structural cardiovascular abnormalities. Pulmonary valve stenosis was prevalent in patients with mutations in PTPN11 (8/25), SOS1 (4/6), and RIT1 (4/5). Hypertrophic cardiomyopathy was found in two of three patients with mutations in RAF1. There was no difference in the cardiovascular events or cardiovascular disease prevalence in patients with or without PTPN11 mutations. The proportion of RIT1 mutation-positive patients who underwent intervention due to cardiovascular disease was significantly higher than that of patients with PTPN11 mutations. Patients who underwent any intervention for pulmonary valve stenosis exhibited significantly higher pulmonary flow velocity than patients who did not undergo intervention, when they visited our hospital for the first time. All patients who underwent intervention for pulmonary valve stenosis had a pulmonary flow velocity of more than 3.0 m/s at first visit. CONCLUSIONS: These findings suggest that genetic information can provide a clinical prognosis for cardiovascular disease and may be part of genotype-based follow-up in Noonan syndrome.

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.

Noonan syndrome and pregnancy outcomes.

BACKGROUND: Noonan syndrome is a genetic disorder with high prevalence of congenital heart defects, such as pulmonary stenosis, atrial septal defect and hypertrophic cardiomyopathy. Scarce data exists regarding the safety of pregnancy in patients with Noonan syndrome, particularly in the context of maternal cardiac disease. STUDY DESIGN: We performed a retrospective chart review of patients at Yale-New Haven Hospital from 2012 to 2020 with diagnoses of Noonan syndrome and pregnancy. We analysed medical records for pregnancy details and cardiac health, including echocardiograms to quantify maternal cardiac dysfunction through measurements of pulmonary valve peak gradient, structural heart defects and interventricular septal thickness. RESULTS: We identified five women with Noonan syndrome (10 pregnancies). Three of five patients had pulmonary valve stenosis at the time of pregnancy, two of which had undergone cardiac procedures. 50% of pregnancies (5/10) resulted in pre-term birth. 80% (8/10) of all deliveries were converted to caesarean section after a trial of labour. One pregnancy resulted in intra-uterine fetal demise while nine pregnancies resulted in the birth of a living infant. 60% (6/10) of livebirths required care in the neonatal intensive care unit. One infant passed away at 5 weeks of age. CONCLUSIONS: The majority of mothers had pre-existing, though mild, heart disease. We found high rates of prematurity, conversion to caesarean section, and elevated level of care. No maternal complications resulted in long-term morbidity. Our study suggests that women with Noonan syndrome and low-risk cardiac lesions can become pregnant and deliver a healthy infant with counselling and risk evaluation.

Pulmonary homograft dysfunction after the Ross procedure using decellularized homografts-a multicenter study.

OBJECTIVES: Pulmonary homograft dysfunction is a limitation after the Ross procedure. Decellularized pulmonary homografts can potentially mitigate this complication. The aim of this study was to examine the incidence, predictors, progression, and morphology of pulmonary homograft dysfunction using data from the Canadian Ross Registry. METHODS: From 2011 to 2019, 466 consecutive patients (mean age: 47 ± 12 years, 73% male) underwent a Ross procedure using a decellularized cryopreserved pulmonary homograft (SynerGraft SG; CryoKife, Kennesaw, Ga). Pulmonary homograft dysfunction was defined as any of the following: peak pulmonary gradient ≥30 mm Hg, pulmonary regurgitation >2, or pulmonary homograft reintervention. Patients meeting ≥1 of these criteria (n = 30) were compared with the rest of the cohort (n = 436). Median follow-up is 2.2 years (maximum = 8.5 years) and 99% complete (1176 patient-years). RESULTS: The cumulative incidence of pulmonary homograft dysfunction was 11 ± 2% at 6 years. Pulmonary homograft stenosis was the most frequent presentation (n = 28 patients, 93%). Morphologically, stenosis occurred most often along the conduit (59%). Overall, 4 patients required homograft reintervention. At 6 years, the cumulative incidence of homograft reintervention was 3 ± 1%. The instantaneous risk was greatest in the first year after surgery (3.5%/year) and decreased to <1%/year thereafter. Patient age <45 years was the only independent risk factor associated with pulmonary homograft dysfunction (hazard ratio, 3.1, 95% confidence interval, 1.1-8.6, P = .03). CONCLUSIONS: The use of decellularized cryopreserved pulmonary homografts results in a low incidence of dysfunction and reintervention after the Ross procedure. The risk is greater in the first postoperative year. Younger age is the only independent risk factor for pulmonary homograft dysfunction.

The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis.

OBJECTIVE: To investigate the prevalence of Noonan spectrum disorders in a pediatric population with pulmonary valve stenosis (PVS) and explore other characteristics of Noonan spectrum disorders associated with PVS. STUDY DESIGN: A retrospective medical record review was completed for patients with a diagnosis of PVS seen at the Children's Hospital Colorado Cardiology clinic between 2009 and 2019. Syndromic diagnoses, genotypes, cardiac characteristics, and extracardiac characteristics associated with Noonan spectrum disorders were recorded; statistical analysis was conducted using R. RESULTS: Syndromic diagnoses were made in 16% of 686 pediatric patients with PVS, with Noonan spectrum disorders accounting for 9% of the total diagnoses. Individuals with Noonan spectrum disorders were significantly more likely to have an atrial septal defect and/or hypertrophic cardiomyopathy than the non-Noonan spectrum disorder individuals. Supravalvar pulmonary stenosis was also correlated significantly with Noonan spectrum disorders. Extracardiac clinical features presenting with PVS that were significantly associated with Noonan spectrum disorders included feeding issues, failure to thrive, developmental delay, short stature, and ocular findings. The strongest predictors of a Noonan spectrum disorder diagnosis were cryptorchidism (70%), pectus abnormalities (66%), and ocular findings (48%). The presence of a second characteristic further increased this likelihood, with the highest probability occurring with cryptorchidism combined with ocular findings (92%). CONCLUSIONS: The 9% prevalence of Noonan spectrum disorder in patients with PVS should alert clinicians to consider Noonan spectrum disorders when encountering a pediatric patient with PVS. The presence of PVS with 1 or more Noonan spectrum disorder-related features should prompt a genetic evaluation and genetic testing for RAS pathway defects. Noonan spectrum disorders should also be included in the differential when a patient presents with supravalvar pulmonary stenosis.

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.

Congenital Heart Defects and the Risk of Spontaneous Preterm Birth.

OBJECTIVES: To estimate the association between major types of congenital heart defects (CHD) and spontaneous preterm birth, and to assess the potential underlying mechanisms. STUDY DESIGN: This nationwide, registry-based study included a cohort of all singleton pregnancies in Denmark from 1997 to 2013. The association between CHD and spontaneous preterm birth was estimated by multivariable Cox regression, adjusted for potential confounders. The following potential mechanisms were examined: maternal genetics (sibling analyses), polyhydramnios, preterm prelabor rupture of membranes, preeclampsia, and indicators of fetal and placental growth. RESULTS: The study included 1 040 474 births. Compared with the general population, CHD was associated with an increased risk of spontaneous preterm birth, adjusted hazard ratio 2.1 (95% CI, 1.9-2.4). Several subtypes were associated with increased risks, including pulmonary stenosis combined with a septal defect, 5.2 (95% CI, 3.7-7.5); pulmonary stenosis or atresia, 3.1 (95% CI, 2.4-4.1); tetralogy of Fallot 2.5 (95% CI, 1.6-3.8); coarctation or interrupted aortic arch 2.2 (95% CI, 1.5-3.2); and hypoplastic left heart syndrome, 2.0 (95% CI, 1.0-4.1). Overall, preterm prelabor rupture of membranes mediated more than one-half of the association. Maternal genetics, polyhydramnios, or indicators of fetal or placental growth did not explain the reported associations. CONCLUSIONS: CHD, especially right ventricular outflow tract obstructions, were associated with an increased risk of spontaneous preterm birth. The risk was carried by the CHD and not by maternal genetics. Moreover, preterm prelabor rupture of membranes was identified as a potential underlying mechanism.

Outcomes of Right Ventricular Outflow Tract Reconstruction in Children: Retrospective Comparison Between Bovine Jugular Vein and Expanded Polytetrafluoroethylene Conduits.

Bovine jugular vein (BJV) and expanded polytetrafluoroethylene (ePTFE) conduits have been described as alternatives to the homograft for right ventricular outflow tract (RVOT) reconstruction. This study compared RVOT reconstructions using BJV and ePTFE conduits performed in a single institution. The valve functions and outcomes of patients aged < 18 years who underwent primary RVOT reconstruction with a BJV or ePTFE conduit between 2013 and 2017 were retrospectively investigated. 44 patients (20 and 24 with BJV and ePTFE conduits, respectively) met the inclusion criteria. The mean follow-up time was 4.5 ± 1.5 years. No significant differences in peak RVOT velocity (1.8 ± 0.9 m/s vs 2.1 ± 0.9 m/s, P = 0.27), branch pulmonary stenosis (P = 0.50), or pulmonary regurgitation (P = 0.44) were found between the BJV and ePTFE conduit groups, respectively. Aneurysmal dilatation of the conduit was observed in 25.0% of the patients in the BJV conduit group but not in the ePTFE conduit group (P = 0.011). All the cases with aneurysmal dilatation of the BJV conduit were complicated with branch pulmonary stenosis up to 3.0 m/s (P = 0.004). No conduit infections occurred during the follow-up period, and no significant difference in conduit replacement (20.0% vs 8.3%, P = 0.43) was found between the BJV and ePTFE conduit groups, respectively. The outcomes of the RVOT reconstructions with BJV and ePTFE conduits were clinically satisfactory. Aneurysmal dilatation was found in the BJV conduit cases, with branch pulmonary stenosis as the risk factor.

Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice.

The epidemiology of Congenital Heart Diseases (CHDs) has changed over the past twenty years. This study aimed to evaluate the prevalence of CHDs in the population of dogs recruited in a single referral center (RC); compare the epidemiological features of CHDs in screened breeds (Boxers) versus non-screened (French and English Bulldogs, German Shepherds); investigate the association of breeds with the prevalence of CHDs; determine the popularity and volatility of breeds over a 20-year period; analysed the trends of the most popular breeds in the overall population of new-born dogs registered in the Italian Kennel Club (IKC) from 1st January 1997 to 31st December 2017. The RC's cardiological database was analysed, and 1,779 clinical records were included in a retrospective observation study. Descriptive statistics and frequencies regarding the most representative breeds and CHDs were generated. A logistic regression model was used to analyse the trends of the most common CHDs found in single and in cluster of breeds. The relationship between breed popularity and presence of CHDs was studied. The most common CHDs were Pulmonic Stenosis, Patent Ductus Arteriosus, Subaortic Stenosis, Ventricular Septal Defect, Aortic Stenosis, Tricuspid Dysplasia, Atrial Septal Defect, Double Chamber Right Ventricle, Mitral Dysplasia, and others less frequent. The most represented pure breeds were Boxer, German Shepherd, French Bulldog, English Bulldog, Maltese, Newfoundland, Rottweiler, Golden Retriever, Chihuahua, and others in lower percentage. Chihuahuas, American Staffordshire Terriers, Border Collies, French Bulldogs, and Cavalier King Charles Spaniel were the most appreciated all of which showed a high value of volatility. This study found evidence for the value of the screening program implemented in Boxers; fashions and trends influence dog owners' choices more than the worries of health problems in a breed. Effective breeding programs are needed in order to control the diffusion of CHDs without impoverishing the genetic pool.

Low prenatal detection rate of valvar pulmonary stenosis: What are we missing?

OBJECTIVES: Critical pulmonary stenosis (PS) and pulmonary atresia with intact ventricular septum (PAIVS) require urgent neonatal intervention. Since PS may be more insidious than PAIVS during gestation, we hypothesized that neonates with PS would have lower rates of prenatal detection than PAIVS. METHODS: We performed a retrospective chart review of all neonates who underwent diagnostic or interventional cardiac catheterization between 2000 and 2014 for critical PS or PAIVS. The rates of prenatal diagnosis were calculated for PS and PAIVS. Prenatal and postnatal echocardiographic data were reviewed. RESULTS: 178 patients met inclusion criteria: 91 with critical PS and 87 with PAIVS. The prenatal diagnosis rate for critical PS was lower than for PAIVS at 37% (34/91) vs 60% (52/87) (P = .003). At the time of diagnosis at a median gestational age of 25 weeks, the median TV z-score for patients with critical PS was larger than in PAIVS (-0.15 vs -3.0 P = .004). CONCLUSION: Critical PS had a lower prenatal detection rate than PAIVS, likely due to a relatively normal 4-chamber view at the time of routine second trimester screening in patients with PS. Color flow Doppler of the outflow tracts may improve detection, since outflow tracts may appear normal by 2D imaging.

Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.

Congenital heart disease (CHD) in low-and-middle income countries (LMIC) is often characterized by late presentation resulting from inadequate screening and healthcare access in these regions. Accurate estimates of the burden of CHD among school children are often lacking. The objective of this study was to determine the prevalence and distribution of CHD among school children in two communities (urban and semi-urban) in south western Nigeria. Using clinical assessment and portable echocardiography, 4107 school children aged 5 years to 16 years in Lagos, Nigeria, were selected using a multistage sampling procedure and screened for CHD. Diagnosis of CHD was made after echocardiography. Children identified with CHD were referred to a tertiary hospital for appropriate cardiac care. The 4,107 children screened had a mean age of 11.3 ± 2.7 years and 53.7% were females. Twenty seven children had echocardiography-confirmed CHD, representing a prevalence of CHD among school children in Lagos, Nigeria of 6.6 per 1000 children. Acyanotic CHD constituted 96.3% of detected cases. Two children diagnosed with CHD (Tetralogy of Fallot and severe pulmonary valve stenosis respectively) had successful intervention. The prevalence of previously undiagnosed CHD among school children in Lagos Nigeria is substantial and highlights gaps in the health care system and school health programs. Echocardiographic screening of school children provides an opportunity for missed early diagnosis and treatment of CHD and reduces the prevalence of first-diagnosed CHD in adulthood. Therefore, focused clinical examination of school children followed by echocardiography is a strategy that could bridge this diagnostic and treatment gap in CHD.

Congenital anomalies of the pulmonary arteries: an imaging overview.

Congenital pulmonary artery anomalies represent a diverse group of abnormalities, ranging from asymptomatic incidental findings to causes of sudden cardiac death. While some may be recognized in childhood, others may be found incidentally in adulthood. We review the clinical and imaging findings in patients with congenital anomalies of the pulmonary arteries, including valvular and perivavular anomalies as well as abnormal narrowing, course and communications of the pulmonary arteries. We also discuss the role of various imaging modalities in the evaluation of these patients. It is vital to be aware of the key radiologic manifestations and associated haemodynamic consequences in these conditions in order to facilitate accurate diagnosis and prognostic stratification.

Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis.

OBJECTIVE: To evaluate the prevalence of Noonan spectrum disorders (NSD) in a pediatric population with valvar pulmonary stenosis (vPS) and identify the clinical characteristics that differentiate those with NSD from those without NSD. DESIGN: A retrospective chart review of 204 patients diagnosed with vPS between 9/1/2012 and 12/1/2016 at a pediatric medical center was performed. The quantitative features of vPS, genetic diagnosis information, and phenotypic characteristics of Noonan syndrome were collected. Chi-square test, Fisher's exact test, t test, Wilcoxon rank-sum test, and ANOVA were used for comparisons among the groups. Logistic regression was used to test for the association between the clinical characteristics and the presence of NSD. RESULTS: Syndromic diagnoses were made in 10% of the children with vPS, with NSD accounting for 6%. Hypertrophic cardiomyopathy (P < .0001), short stature (P < .0001), developmental delay (P < .0001), ophthalmological abnormalities (P < .0001), pectus carinatum/excavatum (P = .01), neurological abnormalities (P = .022), and aortic stenosis (P = .031) were present more often in individuals with NSD compared to nonsyndromic vPS. A logistic regression analysis showed a 4.8-fold increase in odds for NSD for each additional characteristic (P < .0001). CONCLUSIONS: At least 6% of the children with vPS have an underlying NSD. Individuals with vPS and NSD were significantly more likely to have additional features known to be associated with NSD than those with vPS without NSD. We conclude that vPS in the presence of one or more significant characteristics should prompt referral for genetic evaluation as a guide to ascertain patients at risk for NSD while optimizing the use of clinical genetics evaluation and potential genetic testing.

[Current incidence of congenital heart disease diagnosed in the first year of life: results of a 20-year registry with one-year follow-up and comparison with the literature]. / Incidenza attuale delle cardiopatie congenite diagnosticate nel primo anno di vita: risultati di un registro di 20 anni con follow-up ad un anno e confronto con la letteratura.

BACKGROUND: The epidemiological data on the incidence of congenital heart defects derive from retrospective registries based on birth discharge codes with methodological limits and different selection criteria. Our aim was to determine the actual incidence of congenital heart defects in the first year of life in a population of residents in a province of Tuscany, Italy. METHODS: This prospective study was conducted in 31 185 newborn residents in the province, enrolling a consecutive population throughout the first year of life and followed up at least for one year. The population cohort was controlled and merged with a retrospective research of the diagnostic codes derived from hospital discharge records of the region of Tuscany. RESULTS: A congenital heart disease was suspected in 10 167 newborns, 32.6% of all live births. Overall, 524 defects were diagnosed (5.2% of the exams), with an incidence at birth of 16.8/1000/year (M/F ratio 0.84). Isolated ventricular septal defects were 343 and 198 spontaneously closed within one year, therefore, the total number dropped to 326 with a one-year incidence of 10.35/1000/year. Besides ventricular septal defects, the most common defects were atrial septal defects (7.3%), followed by ductus arteriosus (4.2%), aortic coarctation (4%), pulmonary stenosis (3.3%) and tetralogy of Fallot (3.1%). CONCLUSIONS: The one-year inclusion period and follow-up allowed us to exclude those defects whose hemodynamic significance is not clear at birth, or are spontaneously reversible within the first year of life. Nevertheless, with the inclusion of defects not evident at birth, congenital heart defects are still common.

Outcomes after Balloon Pulmonary Valvuloplasty for Critical Pulmonary Stenosis and Incidence of Coronary Artery Fistulas.

Outcome data for neonates with critical pulmonary stenosis (PS) is limited. We aimed to review the outcomes after balloon pulmonary valvuloplasty (BPV) for neonates with critical PS at our institution. All neonates with critical PS who underwent BPV from 1990 to 2017 were included. A total of 44 neonates underwent BPV for critical PS. Nonright ventricular dependent coronary artery fistulas was seen in 6/44 (13.6%) patients. Tricuspid valve z-scores were -1.9 (interquartile range [IQR] -3.04, -0.48) in those with coronary artery fistulas as compared with -0.27 (IQR -0.5, 0.8) in those without (p = 0.03). Fifteen of forty-four subjects (34.1%) patients underwent reintervention with 10 patients (22.7%) requiring an alternate source of pulmonary blood flow (3 patients subsequently underwent right ventricular overhaul, 2 underwent Glenn operations, and 1 underwent repeat BPV). Five patients underwent reintervention for right ventricular outflow tract obstruction. Pulmonary valve annulus z-score was significantly smaller in those who needed reintervention -2.4 (IQR -2.9 to -0.95) versus -0.59 (IQR -1.3, -0.15); p = 0.02. At a median follow-up of 8.2 (IQR 3.4 to 13.1) years, moderate or severe pulmonary regurgitation was seen in 22/42 (53.7 %) patients with biventricular circulation, 3 requiring pulmonary valve repair/replacement. In conclusion, coronary artery fistulas occur in a significant number of patients with critical pulmonary stenosis, occurring more frequently in patients with small tricuspid valves. Reintervention is required for 1/3 of patients. Patients with small pulmonary valve annuli are more likely to undergo reintervention for right ventricular outflow tract obstruction. Significant pulmonary regurgitation is common and may require eventual pulmonary valve replacement.

Variations in Practice Patterns and Consistency With Published Guidelines for Balloon Aortic and Pulmonary Valvuloplasty: An Analysis of Data From the IMPACT Registry.

OBJECTIVES: The authors sought to study variation in the practice of balloon aortic (BAV) and pulmonary valvuloplasty (BPV). BACKGROUND: The IMPACT (IMProving Adult and Congenital Treatment) registry provides an opportunity to study practice variation in transcatheter interventions for congenital heart disease. METHODS: The authors studied BAV and BPV in the IMPACT registry from January 1, 2011, to September 30, 2015, using hierarchical multivariable models to measure hospital-level variation in: 1) the distribution of indications for intervention; and 2) in cases with "high resting gradient" as the indication, consistency with published guidelines. RESULTS: A total of 1,071 BAV cases at 60 hospitals and 2,207 BPV cases at 75 hospitals were included. The indication for BAV was high resting gradient in 82%, abnormal stress test or electrocardiogram (2%), left ventricular dysfunction (11%), and symptoms (5%). Indications for BPV were high resting gradient in 82%, right-left shunt (6%), right ventricular dysfunction (7%), and symptoms (5%). No association between hospital characteristics and distribution of indications was demonstrated. Among interventions performed for "high resting gradient," there was significant adjusted hospital-level variation in the rates of cases performed consistently with guidelines. For BAV, significant differences were seen across census regions, with hospitals in the East and South more likely to practice consistently than those in the Midwest and West (p = 0.005). For BPV, no association was found between hospital factors and rates of consistent practice, but there was significant interhospital variation (median rate ratio: 1.4; 95% confidence interval: 1.2 to 1.6; p < 0.001). CONCLUSIONS: There is measurable hospital-level variation in the practice of BAV and BPV. Further research is necessary to determine whether this affects outcomes or resource use.

Sudden death in patients with Ebstein anomaly.

Aims: Ventricular dysfunction or structural alteration of either ventricle is a well-established risk factor for sudden death (SD). Ebstein anomaly (EA) can present with both right and left heart abnormalities; however, predictors of SD have not been described. We therefore sought to characterize the incidence and risk factors of SD among a large cohort of patients with EA. Methods and results: All EA patients who underwent evaluation at a high-volume institution over a 4-decade period were retrospectively reviewed. Clinical variables, cardiovascular surgical procedure(s), and cause of death were recorded. Sudden death incidence from birth and following tricuspid valve (TV) surgery were estimated using the Kaplan-Meier method. Cox regression analysis was used to identify clinical and surgical predictors of SD. The cohort comprised of 968 patients [mean age 25.3 years, 41.5% male; 79.8% severe EA, 18.6% accessory pathway, 0.74% implantable cardioverter-defibrillator (ICD) placement]. The 10-, 50-, and 70-year cumulative incidences of SD from birth were 0.8%, 8.3%, and 14.6%, respectively. Prior ventricular tachycardia [hazard ratio (HR) 6.37, P < 0.001)], heart failure (HR 5.64, P < 0.001), TV surgery (HR 5.94, P < 0.001), syncope (HR 2.03, P = 0.019), pulmonic stenosis (HR 3.42, P = 0.001), and haemoglobin > 15 g/dL (HR 2.05, P = 0.026) were multivariable predictors of SD. In a similar subgroup analysis of patients who underwent TV surgery, all of the above factors except syncope were significantly associated with post-operative SD on multivariable analysis. Conclusion: Patients with EA are at significant risk for SD. Key clinical SD predictors identified can aid in risk stratification and potentially guide primary prevention ICD implantation.

[Interauricular communications in children: diagnosis and treatment, about 49 cases at the Children?s University Hospital in Dakar]. / Les communications interauriculaires chez l'enfant: diagnostic et prise en charge à propos de 49 cas aux CHU pédiatriques de Dakar.

Interauricular communication (IAC) is the second most important congenital heart disease in children. It accounts for 6-8% of congenital cardiac malformations in children. However, many questions are still open about this pathology. Thus, this study aims to report the prevalence rate of IAC in hospital but especially to describe its clinical, paraclinical and therapeutic aspects. For this purpose, we conducted a retrospective descriptive study. Data were collected by means of a questionnaire and then entered and analyzed in Sphinx (V5). The prevalence in Hospital was 2x1000. The average age of patients was 37 months, the sex-ratio was 0,75. No prenatal diagnosis was made. Parental consanguinity was detected in 30% of cases. Respiratory infections were found in 24% of cases. Cardiomegaly was found in 35 cases with hypervascularization in 63% of cases. Ultrasound showed a predominance of ostium secundum; wide IAC was found in 63% of cases. Pulmonary stenosis was the most important associated heart attack. Pulmonary arterial hypertension was found in 63% of the cases. Treatment was based on diuretics, which were largely used and only 7 children underwent surgery. Evolution was favorable in 39 patients reflecting a rate of 79%. Early diagnosis of IAC should be improved as well as surgical treatment of IAC affecting infants.

Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes / Cornelia de Lange syndrome: Congenital heart disease in 149 patients

Introducción: El síndrome Cornelia de Lange (SCdL) se produce por afectación de los genes que codifican proteínas reguladoras o estructurales del complejo de cohesinas. La cardiopatía congénita (CC) no es criterio mayor de enfermedad, pero afecta a numerosos individuos. El objetivo de este trabajo ha sido estudiar la incidencia y tipo de CC en pacientes con SCdL. Material y método: Se han evaluado los hallazgos cardiológicos en 149 pacientes con SCdL y su posible relación con variables clínicas y genéticas. Resultados: Un 34,9% presentan CC (defectos septales 50%, estenosis pulmonar 27%, coartación aórtica 9,6%). La presencia de CC se relaciona con hospitalización neonatal (p=0,04), hipoacusia (p=0,002), mortalidad (p=0,09) y menor hiperactividad (p=0,02); es más frecuente en pacientes HDAC8+ (60%), seguido de NIPBL+ (33%) y SMC1A+ (28,5%). Mientras que en NIPBL+ predominan los defectos septales, en HDAC8+ es más frecuente la estenosis pulmonar. Conclusiones: Los pacientes con SCdL tienen una incidencia elevada de CC, que varía según el gen afectado, siendo los hallazgos más frecuentes los defectos septales y la estenosis pulmonar. Se sugiere realizar estudio cardiológico en todos estos pacientes (AU)

Introduction: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Material and method: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. Results: A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Conclusions: Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested (AU)