Congenital heart disease

OBJECTIVE: The primary objective of this study was to investigate potential mechanisms and explore hub genes of craniofacial microsomia (CFM) patients associated with congenital heart defects (CHD). METHODS: Initially, the authors acquired target gene data related to CFM and congenital cardiac anomalies. Subsequently, the authors established a protein-protein interaction (PPI) network. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses and molecular complex detection were conducted using Metascape...

Tetralogy of Fallot is the most common cyanotic congenital heart disease. For decades, our institution has cared for humanitarian patients with late presentation of tetralogy of Fallot. They are characterized by severe right ventricular hypertrophy with consecutive diastolic dysfunction, increasing the risk of postoperative low cardiac output syndrome (LCOS). By right ventricular restrictive physiology, we hypothesized that patients receiving early postoperative beta-blockers (within 48 h after cardiopulmonary bypass) may have better diastolic function and cardiac output...

Plasma N-terminal prohormone B-type natriuretic peptide (NT-proBNP) concentration is a heart failure (HF) biomarker in adults and children. Its prognostic value for HF-related events has been established only in adults. Therefore, we aimed to test the hypothesis that plasma NT-proBNP concentrations predicted the risk of heart transplantation or death in children with HF. We studied the medical records of 109 children with HF enrolled in the IBM Watson Explorys database and from 150 children enrolled in the Pediatric Cardiomyopathy Registry (PCMR)...

A sub-mitral left ventricular aneurysm is a rare condition. It is a congenital outpouching of the left ventricular wall, invariably occurring adjacent to the posterior mitral leaflet. Sub-mitral aneurysm (SMA) has usually been reported as a consequence of myocardial ischemia (MI), rheumatic heart disease, tuberculosis, and infective endocarditis. Nevertheless, there have been few case reports of congenital SMA in India. It usually presents with symptoms of heart failure. We report a rare case of congenital SMA in a 27-year-old young Indian and its successful management through a trans-aneurysmal approach...

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge...

An inherent limitation of the Ross procedure is long-term two valve disease which will require repetitive reintervention. In this case, a 31-year-old man who had underwent Ross operation due to congenital bicuspid valve 20 years before, underwent double root replacement: valve sparing root reimplantation concomitant with the right ventricular outflow tract (RVOT) reconstruction with a bioprosthesis for severe RVOT stenosis. Although the diameter of autograft root was 42 mm and aortic insufficiency was mild, we added root surgery due to concerns regarding autograft root dilation in response to left ventricular volume load after RVOT reconstruction...

BACKGROUND: Partial anomalous pulmonary venous return (PAPVR) can be surgically corrected using a pericardial baffle. This baffle can become obstructed post-surgery, leading to pulmonary hypertension and right heart dysfunction if not detected and corrected. CASE SUMMARY: We describe three patients with occluded PAPVR baffles who underwent drug-coated balloon angioplasty and stenting of the obstructed baffle. In each case, baffle obstruction was detected post-operatively on surveillance cross-sectional imaging, and an invasively measured pulmonary capillary wedge-to-left atrium gradient was noted to be elevated...

Due to the difficulty of finding brain-dead donors, in October 1998, I performed the first living-donor lobar lung transplantation (LDLLT) for a ventilator-dependent 24-year-old female patient with bronchiectasis using lobes from her parents. The patient is still alive and in good health 25 years after the transplantation. Over time, the indications for LDLLT have expanded to include pulmonary hypertension, pulmonary fibrosis, congenital genetic diseases, pulmonary complications after stem cell transplantation, and, more recently, severe lung injury due to COVID-19 infection...

Artificial intelligence (AI) has made significant progress in the medical field in the last decade. The AI-powered analysis methods of medical images and clinical records can now match the abilities of clinical physicians. Due to the challenges posed by the unique group of fetuses and the dynamic organ of the heart, research into the application of AI in the prenatal diagnosis of congenital heart disease (CHD) is particularly active. In this review, we discuss the clinical questions and research methods involved in using AI to address prenatal diagnosis of CHD, including imaging, genetic diagnosis, and risk prediction...

Aortic coarctation is diagnosed in approximately 5% of adult patients with congenital heart disease and is commonly diagnosed through the close examination of hypertension. Various surgical strategies for adult coarctation have been recently reported. Generally, aortic replacement may require blood transfusion in case of injury of the well-developed collateral vessels. Therefore, in order to secure an operative safety, we preoperatively used a medical image viewer to identify the abnormal vessels by three-dimensional computer graphics (3DCG) reconstruction...

Ventricular aneurysm represents a rare complication of transmural acute myocardial infarction, although other cardiac, congenital, or metabolic diseases may also predispose to such condition. Ventricular expansion includes all the cardiac layers, usually with a large segment involved. Adverse events include recurrent angina, reduced ventricular stroke volume with congestive heart failure, mitral regurgitation, thromboembolism, and ventricular arrhythmias. Multimodality imaging is paramount to provide comprehensive assessment, allowing for appropriate therapeutic decision-making...

OBJECTIVE: The atrio-ventricular and ventricle-arterial double discordance (DD) or corrected transposition of the great arteries is a rare heart disease, it occurs in 0.02-0.07 of every 1,000 live newborns. The objective of the study is to describe the diagnosis, treatment and evolution of a series of patients with DD. METHOD: A retrospective and descriptive study was carried out, reviewing the records of patients diagnosed with DD in the last 22 years. Descriptive statistics were performed...

OBJECTIVE: To describe and evaluate the outcomes of ductal angioplasty with stent placement at a single high-complexity center during the period 2016-2022. METHOD: A retrospective descriptive cross-sectional study was conducted, including patients under 3 months of age who underwent ductal stent implantation as initial palliative treatment. Demographic, clinical, and anatomical data were collected before the intervention. Mortality, intra- and post-procedural complications, need for re-intervention, intensive care requirements, and hospital stay were recorded...

The concomitant large atrial septal defect closure, endocardial biatrial cryoablation and tricuspid valve replacement with mitral homograft in a patient with adult congenital heart disease is presented. Because of the severely dilated right ventricle and leaflet tenting, tricuspid valve replacement was considered. The patient refused both mechanical and stented biological prosthesis due to personal beliefs, therefore, the alternative valve substitute was proposed. Relevant decision-making process, preoperative diagnostic work-up and surgical technique are highlighted with satisfactory outcomes...

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Congenital diverticulum is an uncommonly detected cardiac lesion, especially in infancy. However, its association with cyanotic congenital heart disease is extremely rare. In the current work, we report a case diagnosed in the neonatal period with tetralogy of Fallot and pulmonary valve atresia associated with a large congenital diverticulum originating from the right ventricle.

INTRODUCTION: Congenital heart disease (CHD) is the most common birth defect. Anemia is the prevailing manifestation of micronutrient deficiency. It has been demonstrated that anemia in children increases morbidity and has a negative impact on psychomotor development. Despite its negative consequences, which have been documented for a long time in clinical practice, the issue does not gain sufficient attention in developing countries, specifically in children with CHD. Thus, this study is aimes to assess the prevalence of anemia and the factors associated in children with CHD...

Coronary artery anomalies (CAAs) are rare, but they can cause serious consequences, complicate the diagnosis of coronary artery disease (CAD), and hamper the ability of the physician to perform the correct intervention for patients with CAD. The widespread use of coronary computed tomography and angiography has shown that the incidence is higher than previously thought. CAAs can occur with various anatomical features. We present three rare examples. The first example involves a circumflex artery (CX) that originates from a different ostium on the right side, despite the presence of left arteries in normal anatomical structures...

BACKGROUND: Pediatric patients often require sedation during magnetic resonance imaging (MRI) and computed tomography (CT) to ensure stillness and minimize stress. This meta-analysis compared the effectiveness and safety of 3 sedative agents-dexmedetomidine, midazolam, and chloral hydrate-for pediatric MRI/CT sedation. METHODS: Six studies with a total of 633 patients were included in the analysis. Quality assessment revealed varying levels of bias risk. Dexmedetomidine exhibited a significantly higher successful sedation rate compared to midazolam (risk ratio [RR] = 0...

INTRODUCTION: Cardiovascular diseases (CVD) are a group of illnesses that include coronary heart disease, cerebrovascular disease, congenital heart disease and deep vein thrombosis. Major surgery is often chosen as the treatment of choice for CVD. The concept of fast-track rehabilitation after surgery appeared in the 1970s. Participation in these exercise-based prehabilitation programmes may decrease postoperative complications and length of hospital stay. The primary aim of the present study is to evaluate whether the implementation of an additional resistance training (RT) prehabilitation protocol within cardiac exercises based prehabilitation can reduce intensive care unit (ICU) length of stay, postoperative complications and hospital length of stay (LOS)...