Search Results (175)

The development process of the heart and cardiovascular system is fundamental in human development and highly regulated by genetic factors. This process needs to be highly regulated to prevent malformations. Nevertheless, some heart defects may be identified, especially with modern imaging methodology. Atrial septal defects (ASDs) are particularly common. Understanding the mechanisms involved in ASD formation is fundamental for developing new treatment strategies. In this article, we explore cardiac development and embryology, with a focus on atrial septal defects and their clinical implications. Full article

Valvular hemangiomas are uncommon vascular anomalies that appear on the surface of heart valves. They can cause an array of non-specific symptoms and are consequently rarely diagnosed, with only 31 such cases (including the present one) reported to date in the literature; the present case is the first report of an arteriovenous hemangioma with a tricuspid localization. During the preoperative echocardiographic examination for a ventricular septal defect, a mass was incidentally discovered on the tricuspid valve of a 9-month-old infant. The involved leaflet was surgically removed and sent to the pathology department for analysis and subsequently diagnosed as an arteriovenous hemangioma. The patient recovered well, with no local tumor recurrence or other complications. The microscopic examination showed multiple blood vessels which stained positive for the endothelial markers CD31 and CD34 and which did not express D2-40, normally found in lymphatic endothelia. Surprisingly, endothelial cells lining the vessels also showed positivity for SMA, a mesenchymal cell marker, indicating a possible involvement of endothelial-to-mesenchymal transition and its opposite process, mesenchymal-to-endothelial transition, in the pathogenesis of these vascular anomalies. Full article

Background: Down syndrome (DS) is associated with unique anatomical and physiological characteristics that complicate the perioperative management of infants undergoing cardiac surgery. While ventricular septal defect (VSD) repair is commonly performed in this population, detailed data comparing perioperative outcomes in DS versus non-syndromic infants remain limited. Methods: This retrospective matched study analysed 100 infants (50 with DS and 50 without DS) who underwent isolated VSD closure between January 2021 and January 2025. Patients were matched by age and surgical date. Intraoperative anesthetic management, complications, postoperative outcomes, and mortality were compared between groups. Results: DS patients had lower age, weight, and height at surgery. They required significantly smaller endotracheal tube sizes, more intubation and vascular access attempts. The DS group had significantly lower rates of extubation in the operating room and experienced longer durations of mechanical ventilation and ICU stay. However, no significant differences were observed in total hospital stay or mortality between groups. Conclusions: Although DS infants present with increased anesthetic complexity and respiratory challenges, they do not exhibit higher surgical mortality following isolated VSD closure. Tailored perioperative strategies may improve respiratory outcomes in this high-risk group. Full article

Objectives: This study aimed to describe the prevalence of malnutrition and its impact on postoperative outcomes in infants and children with congenital heart diseases (CHDs) undergoing cardiac surgeries. Methods: We conducted a single-center, retrospective review of medical records of children aged 1 month to 5 years with CHDs who underwent cardiac surgery at the American University of Beirut Medical Center (AUBMC) between January 2015 and January 2017. Anthropometric data were collected and z-scores for weight-for-age (WAZ), height-for-age (HAZ), weight-for-height (WHZ), and BMI-for-age were calculated. Malnutrition was classified based on the World Health Organization (WHO) definitions and the American Society for Parenteral and Enteral Nutrition (ASPEN) criteria. The postoperative outcomes were analyzed using bivariate and multivariable models. Results: The prevalence of malnutrition was 33.8%, with children younger than 24 months having significantly higher odds of malnutrition. The most common CHDs were ventricular septal defect (VSD) and tetralogy of Fallot (TOF), with malnutrition being significantly more prevalent in the children with VSD. Malnutrition was significantly associated with a prolonged pediatric intensive care unit (PICU) stay, with underweight being the strongest predictor. Malnourished children also had a significantly longer mechanical ventilation time (median 9.0 vs. 5.0 h, p = 0.017). Lower weight-for-age (WAZ) and BMI-for-age z-scores were associated with longer hospital stay, PICU stay, and mechanical ventilation durations. Conclusions: Malnutrition is prevalent among children with CHDs and is independently associated with longer hospital and PICU stays, as well as extended mechanical ventilation. Early nutritional assessment and intervention may improve postoperative outcomes in this vulnerable population. Full article

Congenital heart disease (CHD) represents a prevalent group of structural cardiac anomalies often associated with alterations in key transcription factors including NKX2-5, TBX5, and, particularly, GATA4. GATA4 is a zinc finger transcription factor essential for regulating genes involved in cardiogenesis. Here, we report the identification of a novel heterozygous missense variant in GATA4 (NM_002052.5:c.907G>T, p.Gly303Trp) in a family with a history of CHD. The proband, exhibiting ventricular septal defect (VSD) and pulmonary stenosis, was referred for genetic evaluation after recurrent spontaneous abortions occurred in their partner. In addition, the mother of the proband has a history of atrial septal defect (ASD) with pulmonary stenosis, which suggests a familial inheritance pattern. Full article

RASopathies are a diverse group of genetic conditions caused by hyperactivation of the RAS-MAPK signaling pathway, mainly inherited in an autosomal dominant manner. They present with variable features such as short stature, congenital heart defects, facial dysmorphisms, and neurodevelopmental delays. This study retrospectively analyzed 143 cases from 2003 to 2022, aiming to improve genotype–phenotype correlation knowledge for personalized care. Patients with genetically confirmed Noonan syndrome (NS) and related disorders were included, with molecular analysis performed via Sanger or parallel sequencing. Data from 906 previously reported cases were also reviewed. Among the 143 patients, most had NS (n = 116). PTPN11 mutations were most frequent (61%), followed by SOS1 (10.3%) and RAF1 (8.6%). Cardiac anomalies were observed in 71%, with pulmonary stenosis (PS) prevalent in NS (48.3%) and hypertrophic cardiomyopathy (HCM) in NSML (40%). PTPN11 variants were linked to PS and atrial septal defects, SOS1 to multiple cardiopathies, and RAF1 to HCM. Additional features included facial dysmorphisms (74.1%), short stature (62.0%), skeletal anomalies (43.1%), cryptorchidism (59.7%), and brain abnormalities (17.2%). JMML and other malignancies were seen in eight patients. This study emphasizes the importance of genotype-guided care, improved diagnosis of mild cases, and the underrecognized prevalence of neurological anomalies. Full article

Adult congenital heart disease (ACHD) represents a significant portion of congenital anomalies, and with improved treatments leading to an increased life expectancy, its prevalence has been increasing over the past few decades. Nonetheless, a considerable number of patients with ACHD require cardiac rhythm management devices during their lifetime. Traditionally, transvenous pacemaker placement has been the standard mode of treatment for these patients. However, some patients with ACHD have anatomical barriers that obscure this mode of treatment. Leadless pacing systems (LPSs) have changed the field of pacing. Currently, two different LPSs are available. In a real-world setting, implanting an LPS in patients after tricuspid valve (TV) surgery seems to be a straightforward procedure with a low risk of complications, with patients showing no valvular dysfunction after the intervention. LPS implantation is an option to avoid device-related complications in patients with previous TV surgery. Moreover, it has been demonstrated that even the jugular approach seems as safe as the femoral approach and could be considered an alternative implantation method for LPSs. The Aveir VR leadless pacemaker is a helix LPS with unique features, such as its capacity as a dual-chamber leadless pacemaker, the ability to map electrical parameters before releasing the device, and its possibility of being retrievable. Hereby, we present the case of Ebstein’s anomaly, atrial septal defect closure, and previous TV surgery with symptomatic intermittent advanced atrioventricular block. This case illustrates that a transjugular approach for LPSs is also feasible in patients with ACHD. Full article

Background: This case report describes the surgical management of pulmonary artery banding (PAB) in a cat diagnosed with an incomplete atrioventricular canal (AVC) defect and a concurrent muscular septal defect. It highlights the use of PAB as a palliative treatment to manage this rare congenital heart condition in companion animals. Case Presentation: A 9-month-old European long-haired male cat presented with clinical signs of heart failure. Pharmacological treatment with sildenafil and furosemide failed to stabilize the patient’s condition. Echocardiographic assessment revealed an incomplete AVC type A and a muscular septal defect. Pulmonary artery banding was performed to reduce pulmonary blood flow and alleviate heart failure symptoms. Pre- and postoperative echocardiographic evaluations were conducted to monitor structural and functional changes in the heart. Post-surgical outcomes included a marked reduction in the size of the right atrium and ventricle and a stable pulmonary artery flow velocity of 3.8 m/s. The cat has remained in very good condition without the need for pharmacotherapy for 13 months post-surgery and is still alive at the time of reporting. Conclusions: PAB proved effective as a palliative intervention for managing an incomplete AVC in this feline patient. The successful outcome suggests that PAB may offer significant long-term benefits and improved survival in selected cases of incomplete AVCs in cats. Full article

Advancements in congenital heart disease (CHD) care have significantly improved survival, leading to a growing population of adults with congenital heart disease (ACHDs). Many of these patients require ongoing interventions for residual defects, conduit or valve dysfunction, and arrhythmia management, often performed using transcatheter techniques. Imaging plays a critical role in ensuring procedural success and safety. Intracardiac echocardiography (ICE) has emerged as an essential imaging modality in ACHD interventions. With continuous technological advancements, ICE offers several advantages over transesophageal echocardiography (TEE) and transthoracic echocardiography (TTE), including superior visualization, real-time guidance, and the ability to avoid general anesthesia. These benefits have made ICE the preferred imaging tool for many transcatheter procedures. This review explores the expanding role of ICE in ACHD interventions, highlighting its applications in structural and electrophysiological procedures. By enhancing procedural precision and reducing complications, ICE is transforming the management of ACHD patients, optimizing outcomes, and improving long-term care for this complex and growing population. Full article

An aorto-right ventricular fistula, a rare condition in humans, is characterized by communication between the ascending aorta and the right ventricle through a defect in the aortic wall. This report describes three cases of dogs with continuous murmurs: a 6-month-old Coton de Tulear, a 5-year-old Maltese, and a 6-month-old Jindo. Notably, all of the dogs presented with no severe clinical signs. Echocardiography revealed a turbulent jet through restrictive perimembranous ventricular septal defects (VSD) during systole and aorto-right ventricular fistulas secondary to ruptured sinuses of Valsalva aneurysm during diastole. In one case, a surgical closure of the VSD simultaneously resolved the aorto-right ventricular fistula. Follow-up echocardiography in the other two cases revealed mild left heart volume overload and a slight increase in the pulmonary-to-systemic blood flow ratio. However, the dogs remained asymptomatic. In conclusion, aorto-right ventricular fistulas with VSDs should be considered in the differential diagnosis of continuous murmurs in dogs. Full article

A 2-year-3-month-old neutered male domestic shorthair cat was presented for cardiological evaluation at the University of Agricultural Sciences and Veterinary Medicine in Cluj-Napoca, Romania, with a history of dyspnea, open-mouth breathing, cyanosis, and exercise intolerance. Physical examination identified a grade 4/6 systolic murmur, cyanosis, and mild dyspnea, with no abdominal abnormalities. Echocardiography revealed right ventricular hypertrophy, severe right atrial dilation, a thickened tricuspid valve, and a large nonrestrictive ventricular septal defect with a left-to-right shunt, consistent with persistent truncus arteriosus (PTA), confirmed postmortem. During necropsy, in addition to the clinically confirmed diagnoses, bilateral myxomatous degeneration of the A-V valves, and associated anomalies such as an atrial diverticulum and splenopancreatic fusion were observed and confirmed histologically. This case emphasizes the clinical and morphological complexity of congenital heart defects in felines, highlighting the importance of advanced diagnostic and histopathological techniques for accurate diagnosis and characterization. Full article

Congenital heart defects (CHDs) in dogs and cats represent a definite minority of cardiac patients. One of the most commonly diagnosed is ventricular septal defects (VSDs). These are associated with abnormal ventricular septation during the prenatal period; however, the mutations of the genes responsible for this phenomenon are not fully understood. VSDs pose a significant diagnostic challenge due to the multitude of locations in the ventricular septum where they are likely to occur. Therefore, there are many phenotypes of the defect causing many problems in terms of a common nomenclature. Among the various classifications, the latest terminology issued by The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD) considers both electrical conduction pathways and adjacent structures to standardize nomenclature. Further, defects located at different sites can alter both prognosis and subsequent management for the patient; thus, taking accurate measurements is crucial. Among these, the Qp:Qs and VSD:Ao ratios, the direction of blood flow through the defect, its location, the diameter and maximum flow velocity, and the pressure difference between the RV and LV are indicated. Emerging technologies such as 3D echocardiography and cardiac magnetic resonance may provide additional diagnostic value. Altogether, along with clinical symptoms, we should determine further management, involving the monitoring of the patient, the implementation of pharmacological treatment, or referral for surgical closure of the VSD. This review summarizes current knowledge on VSD, where the pathogenesis of the condition, diagnosis, and management, including conventional and surgical methods as well as long-term follow-up, are described, providing a complete overview of the issue. Full article

Missed or delayed heart disease diagnoses pose a major challenge in pediatric primary care. Many cardiac conditions present with subtle or nonspecific symptoms that resemble benign childhood illnesses, making their prompt recognition difficult. This review describes congenital and acquired heart diseases prone to diagnostic delays, including critical congenital heart disease, coarctation of the aorta, atrial and ventricular septal defects, myocarditis, Kawasaki disease, heart failure, and pulmonary arterial hypertension. The atypical presentations of these disorders and the associated diagnostic pitfalls are emphasized. Furthermore, the importance of alarming symptoms and signs, such as chest pain, palpitations, syncope, and abnormal heart murmurs, is underscored. A structured approach to these red flags is presented to assist primary care pediatricians in identifying children at risk, initiating appropriate management, and referring them for specialized evaluation. The importance of preparticipation screening for athletes is also discussed, highlighting how it can be applied to all children during routine health visits to identify those with heart disease. Appropriate training is essential to increase pediatricians’ ability to recognize and manage cardiac patients. Full article

Background: Atrial septal defect (ASD) is a prevalent congenital heart condition, resulting in left-to-right shunting. Untreated ASDs may be associated with complications, including right-sided heart failure, pulmonary hypertension, and atrial arrhythmias. Percutaneous ASD closure, performed with various occluder devices, has become the preferred approach for symptomatic patients with suitable anatomy, yet data on device-specific efficacy and safety profiles remain limited. Methods: This study was a retrospective, single-center analysis involving patients who underwent percutaneous ASD closure between January 2000 and February 2023. Data on patient characteristics, indications for the procedure, procedural details, and clinical outcomes were extracted from electronic medical records. Endpoints included complications at the puncture site, pericardial effusion, atrial arrhythmias, device-related thrombus formation, and overall survival. Results: A total of 195 patients were included (mean age 53.6 ± 16.2 years; 60.5% female). Three different devices were used: Amplatzer ASD occluder (n = 111), Gore Septal Occluder (n = 67), and Occlutech ASD occluder (n = 17). Initial procedural success rate was 90.8%, with no significant differences observed between devices. Periprocedural complication rates were low and comparable across all devices. New-onset atrial fibrillation within the first month post-implantation occurred in 7.5% of patients with the Gore device, compared to 0.9% with the Amplatzer device (p = 0.03) and 0% with the Occlutech device. No statistically significant differences were observed among the devices regarding thrombus formation, late-onset pericardial effusion, device erosion, or stroke. Conclusions: Percutaneous ASD closure demonstrates high procedural success and low complication rates across different occluder devices, supporting its efficacy and safety as a treatment for adults. Although the Gore device showed a higher incidence of new-onset AF compared to the Amplatzer device, no significant differences were observed regarding thrombus formation, pericardial effusion, device erosion or stroke. Full article

Background/Objectives: Secundum-type atrial septal defect (ASD) is one of the most common congenital heart defects, with an incidence of 5.64 per 10,000 live births worldwide. In our study, long-term follow-up results of children who underwent percutaneous ASD closure and patients who underwent surgical treatment were evaluated using right ventricular strain echocardiography and electrocardiography. Methods: 30 patients who underwent transcatheter ASD closure and 30 patients provided with surgical ASD closure were prospectively compared with 50 healthy children with similar demographic characteristics. ECG and transthoracic echocardiography were performed for all patients. The evaluated echocardiography variables are Tricuspid annular plane systolic excursion (TAPSE), 2D right ventricle (RV) and right atrium (RA) dimensions, right ventricular segmental longitudinal strain, and global longitudinal strain. ECG evaluation was performed especially in terms of QRS duration and its correlation with strain echo measurements. Results: The surgical treatment group has statistically significant ASD size compared to patients who underwent transcatheter closure (20 ± 3.6 and 14.87 ± 3.7 mm, p < 0.001). Patients who had surgical treatment have increased RA and RV diameters, and a statistically significant decrease was observed in right ventricular free-wall longitudinal strain and right ventricular four-chamber longitudinal strain compared to patients in transcatheter and the control group (p < 0.001). QRS durations were similarly normal in electrocardiography in the transcatheter and the control groups, and the QRS duration was observed as statistically significantly increased in the patients in the surgical treatment group (p < 0.001). Conclusions: Strain values of the patients who underwent surgical closure were lower, and the QRS values on the ECG were longer, compared to the transcatheter group, which is an indicator that a large ASD diameter has a negative effect on long-term right ventricular function. With this in mind, we argue that early surgical closure is an appropriate treatment option for children whose ASD is large for their age and who are not suitable candidates for transcatheter treatment. Full article