Double-chambered left ventricle misdiagnosed as ventricular septal defect.

A 35-year-old woman was initially misdiagnosed with a muscular ventricular septal defect but was later correctly diagnosed with a double-chambered left ventricle following evaluation by echocardiography and cardiac computed tomography.

Presentation of mitral valve cleft with concurrent atrial septal defect and ventricular septal defect detected by three-dimensional transesophageal echocardiography: a case report.

BACKGROUND: Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography. CASE PRESENTATION: A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects. CONCLUSION: This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions.

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.

BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years. CASE PRESENTATION: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND. CONCLUSION: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.

Echocardiographic features of a giant aneurysm of membranous ventricular septum.

We describe the echocardiographic features of a 22-year-old female with a giant aneurysm of membranous ventricular septum (AMVS). Both transthoracic echocardiography (TTE) and transesophageal echocardiography (TEE) demonstrated significant dilatation of the aortic annulus and severe aortic regurgitation. A giant aneurysm was detected extending from a large membranous ventricular septal defect (MVSD) to the anterior surface of the aortic root. Contrast-enhanced CT and three-dimensional CT revealed a giant aneurysm located below the aortic root and connected to the left ventricular outflow tract (LVOT). The diagnosis was confirmed by surgery and postoperative pathological examination.

Clinical Presentation and Therapy of Ventricular Septal Defect.

Ventricular septal defects (VSDs) occur in 1.5-3.5 of 1000 live births and constitutes 20 % of congenital cardiac defects. There is no gender predominance.

Clinical Presentation and Therapy of d-Transposition of the Great Arteries.

d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.

The developmental processes of ventricular septal defects with outflow tract malalignment.

Ventricular septal defects (VSD) with outflow tract (OFT) malalignment are a common group of congenital heart diseases with varying severity. The developmental process of these defects is challenging to understand due to the complex nature of cardiac morphogenesis and the difficulties in visualizing the temporal and spatial changes that occur during pathogenesis. However, recent advancements in imaging techniques, such as high-resolution episcopic microscopy, have provided valuable insights into the normal septation of ventricular chambers and OFT alignment. Building upon this knowledge, we have utilized lightsheet microscopy, another innovative imaging method, to further investigate the developmental processes that lead to abnormal formation of the ventricular septum and the malalignment of arterial roots with the ventricular chambers. Our study highlights endocardial cushion hypoplasia and insufficient rotation of the outflow tract as two interrelated central factors contributing to the pathogenesis of these defects. This finding has the potential to enhance our understanding of the etiology of congenital heart diseases and may contribute to the development of improved diagnostic and therapeutic strategies in the future.

Correlation between types of ventricular septal defect and chromosomal abnormalities in low-risk non-invasive prenatal testing.

PURPOSE: The aim of this study was to examine whether there is a correlation between different types of ventricular septal defects (VSD) and chromosomal abnormalities in the low-risk setting of non-invasive prenatal testing (NIPT) and to evaluate the prognosis of fetuses with varying types of VSD. METHODS: Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes. RESULTS: The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention. CONCLUSION: When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD.

Deep learning-based differentiation of ventricular septal defect from tetralogy of Fallot in fetal echocardiography images.

BACKGROUND: Congenital heart disease (CHD) seriously affects children's health and quality of life, and early detection of CHD can reduce its impact on children's health. Tetralogy of Fallot (TOF) and ventricular septal defect (VSD) are two types of CHD that have similarities in echocardiography. However, TOF has worse diagnosis and higher morality than VSD. Accurate differentiation between VSD and TOF is highly important for administrative property treatment and improving affected factors' diagnoses. OBJECTIVE: TOF and VSD were differentiated using convolutional neural network (CNN) models that classified fetal echocardiography images. METHODS: We collected 105 fetal echocardiography images of TOF and 96 images of VSD. Four CNN models, namely, VGG19, ResNet50, NTS-Net, and the weakly supervised data augmentation network (WSDAN), were used to differentiate the two congenital heart diseases. The performance of these four models was compared based on sensitivity, accuracy, specificity, and AUC. RESULTS: VGG19 and ResNet50 performed similarly, with AUCs of 0.799 and 0.802, respectively. A superior performance was observed with NTS-Net and WSDAN specific for fine-grained image categorization tasks, with AUCs of 0.823 and 0.873, respectively. WSDAN had the best performance among all models tested. CONCLUSIONS: WSDAN exhibited the best performance in differentiating between TOF and VSD and is worthy of further clinical popularization.

Anomalous Left Coronary Artery From the Pulmonary Artery With Ventricular Septal Defect and Double Aortic Arch: A Unique Case Report.

Anomalous left coronary artery from the pulmonary artery (ALCAPA) is an uncommon life-threatening congenital heart defect that occurs mostly as an isolated lesion. It is very rarely associated with other cardiac abnormalities. In this report, we present a case of an infant who successfully underwent complete surgical repair of a rare triad of congenital heart defects, including ALCAPA, ventricular septal defect (VSD), and double aortic arch (DAA). To the best of our knowledge, this is only the second case of ALCAPA diagnosis associated with VSD and DAA that has been described in the literature.

¿Será realmente una verdadera comunicación interventricular? / Could it really be a true ventricular septal defect?

Ventricular septal defect (VSD) is one of the most common congenital defects. It has a wide variety of clinical spectrum of presentation depending on the location and size of the defect. Generally, small restrictive VSDs present spontaneous closure during follow-up. A clinical case is presented with suspected persistent perimembranous VSD, with described intraoperative anatomical findings of aneurysmal cribriform membrane, ruling out VSD.

La comunicación interventricular (CIV) es uno de los defectos congénitos más comunes. Tiene una amplia variedad de espectro clínico de presentación dependiendo de la localización y tamaño del defecto. Por lo general, en los CIV restrictivos pequeños presentan un cierre espontáneo durante el seguimiento. Se presenta un caso clínico con sospecha de CIV perimembranosa persistente, con hallazgos anatómicos intraoperatorios descritos de membrana cribiforme aneurismática descartandose CIV.

Clinical Outcomes and Echocardiographic Predictors of Reintervention After Interrupted Aortic Arch Repair.

Left ventricular outflow tract obstruction (LVOTO) remains a significant complication after primary repair of interrupted aortic arch with ventricular septal defect (IAA-VSD). Clinical and echocardiographic predictors for LVOTO reoperation are controversial and procedures to prophylactically prevent future LVOTO are not reliable. However, it is important to identify the patients at risk for future LVOTO intervention after repair of IAA-VSD. Patients who underwent single-stage IAA-VSD repair at our center 2006-2021 were retrospectively reviewed, excluding patients with associated cardiac lesions. Two-dimensional measurements, LVOT gradients, and 4-chamber (4C) and short-axis (SAXM) strain were obtained from preoperative and predischarge echocardiograms. Univariate risk analysis for LVOTO reoperation was performed using unpaired t-test. Thirty patients were included with 21 (70%) IAA subtype B and mean weight at surgery 3.0 kg. Repair included aortic arch patch augmentation in 20 patients and subaortic obstruction intervention in three patients. Seven (23%) required reoperations for LVOTO. Patient characteristics were similar between patients who required LVOT reoperation and those who did not. Patch augmentation was not associated with LVOTO reintervention. Patients requiring reintervention had significantly smaller LVOT AP diameter preoperatively and at discharge, and higher LVOT velocity, smaller AV annular diameter, and ascending aortic diameter at discharge. There was an association between LVOT-indexed cross-sectional area (CSAcm2/BSAm2) ≤ 0.7 and reintervention. There was no significant difference in 4C or SAXM strain in patients requiring reintervention. LVOTO reoperation was not associated with preoperative clinical or surgical variables but was associated with smaller LVOT on preoperative echo and smaller LVOT, smaller AV annular diameter, and increased LVOT velocity at discharge.

Pulmonary artery dissection secondary to ventricular septal defect and pulmonary valve stenosis.

The aortic short axis view demonstrated the widening of the pulmonary artery and the membrane-like echo in the pulmonary artery divided it into true lumen and false lumen. And the flow of the ruptured openings on the band-like echo was clearly revealed by Color Doppler.