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Aortic stenosis (AS) and pulmonic stenosis (PS) are two of the most common canine congenital heart diseases (CHD), with a high relative risk for Newfoundland dogs to develop inherited subvalvular AS. For this reason, a cardiovascular screening program has been set up by the French Newfoundland kennel club in order to manage mattings and reduce AS prevalence. The records of untreated and non-anesthetized adult Newfoundland dogs screened between 2010 and 2023 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. A total of 921 dogs were screened during the study period (female:male sex ratio = 1.94, median age [IQR] = 1.9 years [1.6-2.7], body weight = 55.0 kg [50-60]). For most dogs (90.6% for AS and 91% PS), a single examination was required to obtain a definitive cardiac status, although most operators (122/133 = 91.7%) were non-specialist general practitioners. Out of the 921 screened dogs, 913/921 (99.1%) and 919/921 (99.8%) were respectively free of AS and PS, with no AS and PS detection during the last 3 years of the program. The inbreeding coefficient, which was assessed from the pedigree analysis of all screened dogs except one, was not significantly different between dogs with either AS (0.59%; P = 0.86) or PS (0.39%; P = 0.72) and those without any arterial stenosis (0.39%). This 14-year cardiovascular screening program has experienced a strong involvement of veterinarians, breeders, and owners throughout France. Unlike reports from other European and North American countries, this program suggests the low and decreasing prevalence of both AS and PS in the Newfoundland breed in France.

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). 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. 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. 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.

Table 1 Syndrome Genetic defect Cardiac features Non-cardiac features Noonan PTPN11, SOS1, aberrant RAS-MAPK-signalling, heterogeneous trait Dysplastic pulmonary valve stenosis, supravalvular pulmonary stenosis, hypertrophic cardiomyopathy Short stature, hypertelorism, downward eye slant, low set ears Williams-Beuren 7Q11.23 deletions, autosomal dominant trait Supravalvular aortic or pulmonary stenosis Elfin face, short stature, impaired cognition and development, endocrine disorders, genitourinary abnormalities Leopard PTPN11, RAF-1, autosomal dominant trait Electrocardiographic abnormalities, supravalvular or valvular pulmonary stenosis Lentigines, ocular hypertelorism, abnormal genitalia, retardation of growth, deafness DiGeorge (velocardiofacial) 22Q11 deletion, autosomal dominant trait Conotruncal defects such as tetralogy of Fallot, interrupted aortic arch, truncus arteriosus, vascular rings and ASD/VSD Hypertelorism, low set and posteriorly rotated ears, palatal abnormalities, micrognathia. Developmental delay, hypoplastic thymus, hypocalcaemia, variety of immunological abnormalities Allagile JAG-1 , NOTCH-2, dominant trait Peripheral pulmonary stenosis Facial dysmorphias (triangular face, wide nasal bridge, deep set eyes), intrahepatic cholestasis, butterfly vertebrae Keutel MGP mutations, autosomal recessive trait Multiple peripheral pulmonary stenosis Abnormal cartilage calcifications, brachytelephalangy, subnormal IQ, hearing loss Congenital rubella - Peripheral pulmonary stenosis, open ductus Botalli Congenital cataract/glaucoma, deafness, pigmentary retinopathy ASD, atrial septal defect; VSD, ventricular septal defect. First choice treatment is balloon pulmonary valvuloplasty.

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.

Background: Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. Methods: We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska. Patients underwent whole-exome sequencing (WES) to identify genetic mutations. Clinical data, including cardiovascular manifestations, psychomotor development, and stature, were analyzed in relation to mutation types. Results: The cohort comprised 60% male and 40% female patients, with a median age at diagnosis of 7.2 years. Cardiovascular abnormalities were present in 88% of patients. Mutations in PTPN11 were most commonly associated with pulmonary valve stenosis (PVS), while RAF1 mutations were prevalent in patients with hypertrophic cardiomyopathy (HCM). No significant association was found between cardiac disease and delayed psychomotor development (p = 0.755), even though the likelihood ratio showed significance in that regard (p = 0.018). Short stature was observed in 48% of patients but was not significantly correlated with genetic type of disease, presence of cardiac disease, or developmental delay. Conclusions: The study confirms the high prevalence of cardiovascular manifestations in NS and highlights genotype–phenotype correlations. While cardiac abnormalities are common, their impact on psychomotor development and stature is less clear. Further research is needed to explore genetic interactions influencing these outcomes and refine clinical management strategies.

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. This single-centre study evaluated patients who were clinically and genetically diagnosed with Noonan syndrome. Forty-three patients diagnosed with Noonan syndrome were analysed. The most prevalent responsible mutation was found in (25/43). The second and third most prevalent causative genes were (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 (8/25), (4/6), and (4/5). Hypertrophic cardiomyopathy was found in two of three patients with mutations in . There was no difference in the cardiovascular events or cardiovascular disease prevalence in patients with or without mutations. The proportion of mutation-positive patients who underwent intervention due to cardiovascular disease was significantly higher than that of patients with 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. 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.

The aims of this study were to investigate the role and relative importance of auscultation and echocardiography traits as risk factors for the diagnosis of subaortic (SubAS) and pulmonic (PS) stenosis and to estimate the heritability (h2) of cardiac measurements taken through echocardiography for a random sample of Italian Boxer dogs. The data were cardiovascular examination results of 1,283 Italian Boxer dogs (686 females and 597 males) enrolled in the national screening program for heart defects arranged by the Italian Boxer Club. Examinations were performed during a 6-yr period by a group of 7 veterinary cardiologists following a standard protocol. Occurrence and severity of SubAS and PS were diagnosed, taking into account clinical and echocardiography findings such as the grade of cardiac murmur, direct ultrasound imaging of the anatomic obstructive lesions, and values of aortic or pulmonary blood flow velocities. A Bayesian logistic regression analysis was performed to identify clinical and echocardiography variables related to SubAS and PS diagnosis. Estimation of variance components for clinical and echocardiography traits was performed using a mixed linear animal model, Bayesian procedures, and the Gibbs sampler. Prevalence of SubAS (PS) was 8.4% (2.2) and 10.7% (6.4) for female and male dogs, respectively. Cardiac murmur, peak velocities, and annulus areas behaved as risk factors for SubAS and PS. The risk of a positive diagnosis for SubAS was 3 times greater for dogs with aortic annulus area <2.1 cm2 relative to dogs with areas >2.37 cm2, 84 times greater for dogs showing aortic peak velocities >2.19 m/s relative to dogs with peak velocities <1.97 m/s, and 41 times greater for dogs with moderate to severe murmur grades relative to dogs with absent murmur. Similar results were obtained for PS. The estimated h2 for the occurrence of cardiac defects was 23.3% for SubAS and 8.6% for PS. Echocardiography and cardiac murmur grades exhibited moderate h2 estimates and exploitable additive genetic variation. The estimated h2 was 36, 24, and 20% for aortic annulus area, aortic peak velocity, and cardiac murmur score, respectively. For the area of the pulmonary annulus and peak pulmonary velocity, the estimated h2 were smaller, ranging from 9.5 to 12.8%. These measures are candidate indicator traits that might be effectively used in dog breeding to reduce the prevalence and severity of cardiac defects.

Significant infundibular stenosis and significant tricuspid regurgitation (TR) occasionally result from severe pulmonary valve stenosis in adults, and these 2 conditions have an adverse impact on morbidity and mortality in patients who undergo corrective surgery. The goal of this study was (1) to evaluate the long-term (up to 17 years) outcome of pulmonary balloon valvuloplasty (PBV) in adults and (2) to determine the effect of successful PBV on severe infundibular stenosis and severe TR. Pulmonary balloon valvuloplasty was performed in 90 consecutive patients (49 women, 41 men) of mean age 23 ± 9 years (range 15-54 years) with congenital pulmonary valve stenosis. Clinical and echocardiographic assessment was performed 2 to 17 years (mean 10 ± 3.9 years) after PBV. Repeat cardiac catheterization was performed 6 to 24 months after PBV in 43 patients who had concomitant moderate to severe infundibular stenosis (infundibular gradient ≥30 mm Hg). There were no immediate or late deaths. The mean catheter peak pulmonary gradient (gradient between pulmonary artery and right ventricular body) before and immediately after PBV was 105 ± 39 and 34 ± 26 ( P < .0001), respectively. The corresponding values for right ventricular pressure were 125 ± 38 and 59 ± 21 mm Hg ( P < .0001), respectively. The infundibular gradient (in 43 patients) immediately after PBV was 42.9 ± 24.8 (30-113) mm Hg, and it regressed at second catheterization to 13.5 ± 8.3 mm Hg ( P < .0001), whereas cardiac index improved from 2.68 ± 0.73 to 3.1 ± 0.4 L min −1 m −2 ( P < .05). Doppler pulmonary gradient before PBV and at 1-year and long-term follow-up were 91 ± 33 (range 36-200), 28 ± 12 (range 10-60) ( P < .0001), and 26 ± 11 (range 7-60) mm Hg ( P = .2), respectively. New mild pulmonary regurgitation was noted in 24 patients (28%) after PBV. Significant TR in 7 patients either regressed or disappeared after PBV. Long-term results of PBV in adults are excellent. Severe infundibular stenosis and severe TR regressed after successful PBV. Therefore, PBV should be considered as the treatment of choice for adult patients with valvular pulmonary stenosis even in the presence of severe infundibular stenosis or severe TR.

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.

Pulmonary stenosis (PS) accounts for 10% to 12% of congenital heart disease in adults, and the probability of survival to child bearing age is high. The impact of PS on pregnancy has not been extensively studied in the recent era. We evaluate the effect of isolated PS on maternal and fetal outcomes in a case-control study of 17 cases with PS in pregnancy from 1995 to 2006. The control group was matched by age, ethnicity, obstetrical history, and year of delivery. Patients with PS were assessed for maternal New York Heart Association (NYHA) functional class and other maternal complications at baseline and during pregnancy; and the 2 groups were compared for fetal and neonatal outcomes including birth weight, gestational age at delivery, Apgar scores, and placental weight. A total of 11 patients were in NYHA functional class I and 6 in class II at the time of presentation. All patients remained stable during pregnancy except for two. One of them deteriorated from NYHA functional class I to II, and the other from class II transiently to class III. There were no other maternal complications. In addition, there were no statistically significant differences in fetal/neonatal outcomes between patients and their controls and between patients with mild and severe PS. In contrast to mitral and aortic stenosis, PS does not adversely impact maternal or fetal outcomes of pregnancy.