Search Results (124)

Background and Clinical Significance: Pulmonary hypertension (PH) is characterized by an increase in mean pulmonary arterial pressure and pulmonary vascular resistance. It is frequently encountered in patients with significant intracardiac shunts, often necessitating the implementation of a closure device or surgical correction. Nevertheless, the occurrence of a concomitant atrial septal defect (ASD) with a right-to-left shunt inducing left ventricular dysfunction is a rare phenomenon. Case Presentation: A 69-year-old female patient with a history of heart failure (with preserved ejection fraction) and end-stage renal disease on hemodialysis presented to an outside facility, with syncope and hypoxia. She was recently diagnosed with severe pulmonary hypertension (measuring 86 mmHg). Right heart catheterization (RHC) revealed precapillary pulmonary hypertension (88/37/54 mmHg), prompting the initiation of intravenous epoprostenol. Nevertheless, the patient was persistently hypoxic, raising the possibility of a concomitant diagnosis. Upon review of the prior echocardiogram, which included a bubble study, an intracardiac shunt was identified. It was hypothesized that a combination of right ventricular failure and the right-to-left shunt resulting from the ASD contributed to the persistent hypoxemia. In light of this, prostacyclin therapy was continued alongside adjunctive vasopressors, resulting in clinical stabilization. The patient was eventually discharged with a treatment regimen that included subcutaneous Treprostinil. Conclusions: It is important to recognize that the consequences of PH are extensive, and that a rare yet significant etiology for persistent hypoxemia may be attributed to right-to-left shunting. Full article

A 2-month-old Shiba Inu was presented to an emergency veterinary clinic with decreased activity and was diagnosed with pulmonary hypertension secondary to a ventricular septal defect. The dog was referred to the TUAT Veterinary Medical Center for further evaluation. During treatment, a diverticulum was incidentally identified at the apex of the left ventricle. While the diverticulum caused no clinical symptoms, a cardiac synchronous computed tomography (CT) scan was performed to accurately assess its anatomical location and size. This case highlights the value of advanced imaging techniques in diagnosing complex congenital cardiac anomalies. Full article

D-transposition of the great arteries (D-TGA) is a common cyanotic critical congenital heart disease. An arterial switch operation (ASO) with/without a ventricular septal defect (VSD) closure is the preferred surgical approach, with an added challenge when an intramural coronary artery (IMC) is present (1), with a reported increased incidence of postoperative complications and mortality (2,3). We present our recent D-TGA with intramural coronary artery (TGA-IMC) experience, focusing on the salient features identified on echocardiography, computed tomography (CT) angiography, and invasive angiograms, as well as variations in ASO surgical techniques for repair. Diagnostic imaging evaluation allowed for identification of the lesion, as well as planning for and undertaking of two different surgical approaches. While the two patients had differing immediate postoperative courses, both were asymptomatic at discharge, with normal biventricular systolic function. Our experience demonstrates that the suspicion for a coronary anomaly in TGA can be raised prenatally and confirmed postnatally with focused trans-thoracic echocardiography and ECG-gated CT angiogram evaluation while also aiding in operative planning. Moreover, suggesting further exploration of the optimal surgical technique for the repair of TGA-IMC. Full article

Objective: To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. Methods: This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. Results: A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis. Of these, 16 (64%) had concordant VA alignment, 8 (32%) had discordant VA connections, and 1 had a double-outlet left ventricle (DOLV). Pulmonary stenosis was observed in 13 fetuses, and 10 (40%) had extracardiac anomalies. Genetic testing, performed in 5 cases, identified a chromosomal anomaly in one case (trisomy 18). Overall, three pregnancies were terminated due to severe associated anomalies. Among the 22 liveborn infants, survival at 12 months was 72%. Restrictive ventricular septal defect (VSD) and the high ductus venosus pulsatility index were significantly associated with lower survival (p = 0.021 and p = 0.034, respectively). Conclusions: Tricuspid atresia can be accurately diagnosed in utero with a thorough echocardiographic evaluation. Restrictive VSD and outflow tract obstructions are critical determinants of early survival, while abnormal DV Doppler patterns may serve as additional markers for adverse outcomes. More extensive studies are needed to validate these findings and improve prognostic counseling. Full article

Introduction: Antenatal diagnosis of cardiac abnormalities and counselling parents about postnatal care require a multidisciplinary team, which includes a paediatric cardiologist, a neonatologist, and a fetal medicine physician. Some of these kinds of expertise are not available in all centres with fetal medicine expertise. However, with modern technology, this could be provided remotely. Our objective was to assess the feasibility and outcomes of prenatal multidisciplinary tele-echocardiography diagnostic and counselling services. Materials and Methods: Two centres based in separate countries provided a joint diagnostic and counselling service over a period of 14 months. The primary centre performed the fetal echocardiography with a Voluson E10 machine, and images were transmitted live using Zoom OPS system with video-consultation and counselling. The fetal echo was performed using the ISUOG Guidelines check list. Results: There was an initial feasibility period of 2 months during which 10 women whose fetuses had normal hearts were scanned to test the workability of the system. Over a period of 12 months, 513 high-risk fetuses were then scanned, and out of these, 27 had congenital malformations. The most common were hypoplastic left heart syndrome (HHLS) and atrio-ventricular septal defect. Tele-echocardiography and counselling were successful in all the cases. Satisfaction with the service was 3.8/4, with the main limitation being the need for further referral to a tertiary centre for delivery. Conclusions: Tele-echocardiography is reliable, and when combined with live counselling and support from a paediatric cardiologist, it is an option acceptable to patients. The greatest benefit was from being counselled by a team of experts at a single consultation rather than having to travel to another centre for consultation. With rapidly evolving technology, making video transmission easier and less expensive, we feel that consideration should be given not only to the development of tele-echocardiography but also to extending it to other aspects of fetal medicine. Full article

Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide. Within these malformations, septal defects such as ventricular (VSD) and atrial septal defects (ASD) are the most common forms of CHDs. Studies have reported that CHDs are the result of genetic and environmental factors. Here, we review and summarize the role of genetics involved in cardiogenesis and congenital cardiac septal defects. Moreover, treatment regarding these congenital cardiac septal defects is also addressed. Full article

Congenitally corrected transposition of the great arteries (ccTGA) is an infrequent and complex congenital malformation, which accounts for approximately 0.5% of all congenital heart defects. This defect is characterized by both atrioventricular and ventriculoarterial discordance, with the right atrium connected to the morphological left ventricle (LV), ejecting blood into the pulmonary artery, while the left atrium is connected to the morphological right ventricle (RV), ejecting blood into the aorta. Due to this double discordance, the blood flow is physiologically normal. Most patients have coexisting cardiac abnormalities that require further treatment. Untreated natural course is often associated with progressive failure of the systemic right ventricle (RV), tricuspid valve (TV) regurgitation, arrhythmia, and sudden cardiac death, which occurs in approximately 50% of patients below the age of 40. Some patients do not require surgical intervention, but most undergo physiological repair leaving the right ventricle in the systemic position, anatomical surgery which restores the left ventricle as the systemic ventricle, or univentricular palliation. Various types of anatomic repair have been proposed for the correction of double discordance. They combine an atrial switch (Senning or Mustard procedure) with either an arterial switch operation (ASO) as a double-switch operation or, in the cases of relevant left ventricular outflow tract obstruction (LVOTO) and ventricular septal defect (VSD), intra-ventricular rerouting by a Rastelli procedure. More recently implemented procedures, variations of aortic root translocations such as the Nikaidoh or the half-turned truncal switch/en bloc rotation, improve left ventricular outflow tract (LVOT) geometry and supposedly prevent the recurrence of LVOTO. Anatomic repair for congenitally corrected ccTGA has been shown to enable patients to survive into adulthood. Full article

Diagnosing congenital heart disease (CHD) remains challenging because of its complex morphology. Representing the intricate structures of CHD on conventional two-dimensional flat screens is difficult owing to wide variations in the pathologies. Technological advancements, such as three-dimensional-printed heart models (3DPHMs) and virtual reality (VR), could potentially address the limitations of viewing complex structures using conventional methods. This study aimed to investigate the usefulness and clinical value of four visualization modalities across three different cases of CHD, including ventricular septal defect, double-outlet right ventricle, and tetralogy of Fallot. Seventeen cardiac specialists were invited to participate in this study, which was aimed at assessing the usefulness and clinical value of four visualization modalities, namely, digital imaging and communications in medicine (DICOM) images, 3DPHM, VR, and 3D portable document format (PDF). Out of these modalities, 76.4% of the specialists ranked VR as the best for understanding the spatial associations between cardiac structures and for presurgical planning. Meanwhile, 94.1% ranked 3DPHM as the best modality for communicating with patients and their families. Of the various visualization modalities, VR was the best tool for assessing anatomical locations and vessels, comprehending the spatial relationships between cardiac structures, and presurgical planning. The 3DPHM models were the best tool for medical education as well as communication. In summary, both 3DPHM and VR have their own advantages and outperform the other two modalities, i.e., DICOM images and 3D PDF, in terms of visualizing and managing CHD. Full article

Background: Congenital heart disease (CHD) encompasses morphofunctional anomalies in the heart and circulatory system present at birth, which may not become apparent until later in life. In Ethiopia, there needs to be more understanding of the prevalence, patterns, and associated complications of CHD malformations. This study aimed to investigate the patterns and complications of CHDs among patients receiving follow-up care at a specialized university referral hospital in Ethiopia. Methods: A hospital-based cross-sectional study was conducted on 199 patients with CHDs to assess the patterns and complications of defects. Retrospective data were collected from 16,972 patients who had follow-ups at a cardiac clinic in 2021 using medical records, and a statistical analysis was performed with SPSS version 24. Results: The most prevalent types of CHDs in our study population were atrial septal defects (ASDs) at 41.2% (82 cases), ventricular septal defects (VSDs) at 26.6% (53 cases), and patent ductus arteriosus (PDAs) at 9.5% (19 cases). Complications related to CHDs were observed in 69.3% (138) of patients, with 30.7% (61) experiencing a single complication and 39.2% (87) experiencing multiple complications. Conclusion: This study found a higher prevalence of CHDs in females (77.8%) compared to males, a trend consistent across various atrial and ventricular defect types. Individuals aged 15 to 25 years exhibited the highest incidence of ASD and VSD. Moreover, CHD-related anomalies were present in 69.3% of the patients studied. Full article

Congenital heart diseases (CHD) are one of the most common birth defects and the main leading cause of death in children. Many patients with CHD are reaching adulthood due to the success of improved contemporary surgical procedures. Understanding the etiology of CHD remains important for patient clinical management. Both genetic and environmental factors are involved in the development and progression of CHD. Variations in many different genes and chromosomal anomalies can be associated with CHD, by expression of different mechanisms. Sporadic cases are the most frequently encountered in these patients. Atrial septal defect is a common congenital heart disease that refers to direct communication between atrial chambers, found isolated or associated with other syndromes. Imaging techniques, especially transthoracic and transesophageal echocardiography (TOE) represent the key for diagnosis and management of ASD. The disease has a major incidence in adulthood, due to late symptomatology, but assessment and treatment are important to avoid time-related complications. Ebstein’s anomaly is a rare congenital disease, with a dominant genetic participation, characterized by an abnormal displacement of the tricuspid valve and right ventricular myopathy, often requiring surgical intervention. Alongside echocardiography, cardiac magnetic resonance (CMR) imaging is the gold standard tool for the assessment of ventricular volumes. Early diagnosis and adequate treatment are mandatory to avoid possible complications of CHD, and thus, ECG, as well as imaging techniques, are important diagnostic tools. However, patients with CHD need a special healthcare team for the entire monitorization in various life stages. Full article

Phonocardiography (PCG) is used as an adjunct to teach cardiac auscultation and is now a function of PCG-capable stethoscopes (PCS). To evaluate the efficacy of PCG and PCS, the authors investigated the impact of providing PCG data and PCSs on how frequently murmurs, rubs, and gallops (MRGs) were correctly identified by third-year medical students. Following their internal medicine rotation, third-year medical students from the Georgetown University School of Medicine completed a standardized auscultation assessment. Sound files of 10 different MRGs with a corresponding clinical vignette and physical exam location were provided with and without PCG (with interchangeable question stems) as 10 paired questions (20 total questions). Some (32) students also received a PCS to use during their rotation. Discrimination/difficulty indexes, comparative chi-squared, and McNemar test p-values were calculated. The addition of phonocardiograms to audio data was associated with more frequent identification of mitral stenosis, S4, and cardiac friction rub, but less frequent identification of ventricular septal defect, S3, and tricuspid regurgitation. Students with a PCS had a higher frequency of identifying a cardiac friction rub. PCG may improve the identification of low-frequency, usually diastolic, heart sounds but appears to worsen or have little effect on the identification of higher-frequency, often systolic, heart sounds. As digital and phonocardiography-capable stethoscopes become more prevalent, insights regarding their strengths and weaknesses may be incorporated into medical school curricula, bedside rounds (to enhance teaching and diagnosis), and telemedicine/tele-auscultation efforts. Full article

Objectives: Congenital heart defects (CHDs) are among the most frequent congenital defects, and they significantly burden the healthcare system due to their high mortality rate and high cost of care for survivors. We aimed to highlight the incidence of CHDs in a tertiary center in Western Romania. Methods: A retrospective study was carried out between 2018 and 2022 at the “Pius Brinzeu” Emergency County Hospital Timisoara. Relevant information about the mothers and the newborns were collected and statistically analyzed. Results: The incidence of CHDs from 2018 to 2022 in our center was 5.3%. Eleven types of malformations were diagnosed postnatally in 541 newborns, with 28.8% of cases having more than one type of CHD. The antenatal detection rate was 28%, with the highest rates for tetralogy of Fallot, hypoplastic left heart syndrome, or significant ventricular septal defects and the lowest for pulmonary stenosis. The lower antenatal detection rate was influenced mainly by incomplete or absent prenatal care. Conclusions: The incidence of CHDs is clearly dependent of a multifactorial approach, and the results highlight this. With an incidence almost 50% lower than reported within the literature and a low rate of prenatal detections, CHDs could be a more of a burden to endure regarding medical treatment. Improvements in patients’ education, prenatal care, and screening programs could improve diagnosis, decrease mortality, and optimize postnatal care. Full article

Coarctation of the aorta (CoA) comprises 5–7% of congenital heart disease and can present as an isolated narrowing in the aortic arch just distal to the left subclavian artery or can be associated with cardiac abnormalities such as a bicuspid aortic valve, aortopathy, or ventricular septal defects. With the advances in the medical field, intervention on CoA can either be via surgical repair or endovascular stenting. Echocardiography is the mainstay in diagnosing CoA, with tomographic imaging such as magnetic resonance imaging (MRI) or computed tomography providing supplementary assessment of the aorta, valves, and collateral vessels. We present a case of a young hypertensive male who was noted to have a continuous cardiac murmur with diagnostic Doppler pattern of CoA on echocardiography that normalized soon after percutaneous stenting. Full article

Genome-wide association studies and experimental mouse models implicate the MIB1 and GATA6 genes in congenital heart disease (CHD). Their close physical proximity and conserved synteny suggest that these two genes might be involved in analogous cardiac developmental processes. Heterozygous Gata6 loss-of-function mutations alone or humanized Mib1 mutations in a NOTCH1-sensitized genetic background cause bicuspid aortic valve (BAV) and a membranous ventricular septal defect (VSD), consistent with MIB1 and NOTCH1 functioning in the same pathway. To determine if MIB1-NOTCH and GATA6 interact in valvular and septal development, we generated compound heterozygote mice carrying different Mib1 missense (Mib1^K735R and Mib1^V943F) or nonsense (Mib1^R530X) mutations with the Gata6^STOP/+ heterozygous null mutation. Combining Mib1^R530X/+ or Mib1^K735R/+ with Gata6^STOP/+ does not affect Gata6^STOP/+ single mutant phenotypes. In contrast, combining Mib1^V943F/+ with Gata6^STOP/+ decreases the incidence of BAV and VSD by 50%, suggesting a suppressive effect of Mib1^V943F/+ on Gata6^STOP/+. Transcriptomic and functional analyses revealed that while the EMT pathway term is depleted in the Gata6^STOP/+ mutant, introducing the Mib1^V943F variant robustly enriches this term, consistent with the Mib1^V943F/+ phenotypic suppression of Gata6^STOP/+. Interestingly, combined Notch1 and Gata6 insufficiency led to a nearly fully penetrant VSD but did not affect the BAV phenotype, underscoring the complex functional relationship between MIB1, NOTCH, and GATA6 in valvular and septal development. Full article

Tetralogy of Fallot is the most common heart defect associated with cyanosis characterized by the co-occurrence of pulmonary stenosis, right ventricular hypertrophy, and ventricular septal defect with over-riding of the aorta. The present review purposed to summarize myocardial, valvular and vascular abnormalities, which were described in a series of patients following repair of tetralogy of Fallot. It was also aimed to describe potential differences in these parameter using different surgical strategies. Full article