-
Case Reports in Radiology 2024Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four...
Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four classical features (ventricular septal defect, overriding of aorta, hypertrophy of right ventricular hypertrophy, and right ventricular outflow tract obstruction), but the clinical presentation and course can be variable. Due to various anatomical variations and complex anatomy, presurgical planning and postoperative follow-up by pulmonary computed tomographic angiography (CTA) have a very important role. With continued technological advances and the availability of 128-slice computed tomographic (CT) scans, they now play an important role in TOF preoperative evaluation and workup, assisting by minimizing routine invasive digital subtraction catheter angiography. The fast scan of a 128-slice CTA with very sensitive detectors is a very useful modality for studying the complex anatomy and variations as well as its utilization for postoperative management. In this article, we report four cases of TOF where we used a 128-slice scan for performing pulmonary angiography (Optima 660, GE 128, 2180 Premier Row, Orlando, FL 32809, U.S.A.) for preoperative diagnosis and management of three cases and work up for revision surgery for an already operated case with a nonfunctional modified Blalock-Taussig shunt with additional lung parenchymal findings simultaneously. This study will explain the advantageous role of the 128-slice CT scanner over the lesser-slice CT scanners with the ability of pulmonary CTA to facilitate accurate diagnosis and postoperative management.
PubMed: 38756334
DOI: 10.1155/2024/3543906 -
Journal of Medical Case Reports Mar 2024Tetralogy of Fallot is a congenital heart disease mostly diagnosed and treated in early childhood. However, there are some adult cases receiving treatment.
BACKGROUND
Tetralogy of Fallot is a congenital heart disease mostly diagnosed and treated in early childhood. However, there are some adult cases receiving treatment.
CASE PRESENTATION
We describe a 78-year-old Japanese woman who presented with severely hypertrophic right ventricle, ventricular septum defect, overriding aorta, and severe infundibular stenosis in the right ventricular outflow tract. As hypoxemia was mild and daily exertion was sufficiently possible, home oxygen therapy was introduced. After 1 month, she was referred because of a positive blood culture. The blood culture test was positive four times, therefore, the antibacterial drug was administered according to active infective endocarditis. SpO repeatedly decreased during hospitalization, thus oxygen was needed. As there were infective endocarditis onset and progressive hypoxemia, we planned a surgical correction.
CONCLUSION
Tetralogy of Fallot was diagnosed and successfully treated with complete surgical correction, and the development of infective endocarditis was the definitive indication for surgery at this late age.
Topics: Child, Preschool; Adult; Female; Humans; Aged; Tetralogy of Fallot; Endocarditis; Endocarditis, Bacterial; Oxygen; Hypoxia
PubMed: 38439111
DOI: 10.1186/s13256-024-04414-5 -
Cureus Jan 2024Tetralogy of Fallot (TOF) is a common cyanotic congenital heart disease characterized by four distinct anatomical features. While surgical repair has significantly...
Tetralogy of Fallot (TOF) is a common cyanotic congenital heart disease characterized by four distinct anatomical features. While surgical repair has significantly improved long-term outcomes, some individuals, particularly those from low socioeconomic backgrounds who lack access to medical care, may suffer from complications such as pulmonary hypertension (pHTN) and heart failure. We present a case report of a young female with unrepaired TOF who presented with acute-on-chronic hypoxic respiratory failure and heart failure, highlighting the complex nature and challenges associated with this condition.
PubMed: 38371077
DOI: 10.7759/cureus.52407 -
Science Advances Feb 2024The first definitive hematopoietic progenitors emerge through the process of endothelial-to-hematopoietic transition in vertebrate embryos. With molecular regulators for...
The first definitive hematopoietic progenitors emerge through the process of endothelial-to-hematopoietic transition in vertebrate embryos. With molecular regulators for this process worked out, the role of metabolic pathways used remains unclear. Here, we performed nano-LC-MS/MS-based proteomic analysis and predicted a metabolic switch from a glycolytic to oxidative state upon hematopoietic transition. Mitochondrial activity, glucose uptake, and glycolytic flux analysis supported this hypothesis. Systemic inhibition of lactate dehydrogenase A (LDHA) increased oxygen consumption rate in the hemato-endothelial system and inhibited the emergence of intra-aortic hematopoietic clusters. These findings were corroborated using -mediated deletion of that showed similar effects on hematopoietic emergence. Conversely, stabilization of HIF-1α via inhibition of oxygen-sensing pathway led to decreased oxidative flux and promoted hematopoietic emergence in mid-gestation embryos. Thus, cell-intrinsic regulation of metabolic state overrides oxygenated microenvironment in the aorta to promote a glycolytic metabolic state that is crucial for hematopoietic emergence in mammalian embryos.
Topics: Animals; Hematopoietic Stem Cells; Proteomics; Tandem Mass Spectrometry; Endothelium, Vascular; Hematopoiesis; Mammals
PubMed: 38363844
DOI: 10.1126/sciadv.adh8478 -
Annals of Medicine and Surgery (2012) Jan 2024Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys,...
INTRODUCTION AND IMPORTANCE
Edward syndrome is a severe chromosomal defect that occurs as a result of non-disjunction through meiosis. It presents with cardiac septal defects, horseshoe kidneys, patent ductus arteriosus, central nervous system dysgenesis, distinctive craniofacial deformities, and overriding or overlapping fingers. Klinefelter syndrome (47, XXY) is found in 1 in 660 newborn males. It is considered to be one of the most common genetic causes of infertility. It manifests with small firm testes, androgen insufficiency, and azoospermia.
CASE PRESENTATION
A 2-month-old male infant with a history of weakness in feeding, frequent convulsions, and an increase in cyanosis two days ago. There were multiple skeletal deformities and a tendency to spasm in the extremities, left ventricular atrophy, mitral atresia, atrial septal defect, ventricular septal defect with dilated right cavities, tricuspid valve regurgitation, pulmonary valve stenosis; and the aorta exits in the right ventricle. There is a widening of the subdural space, which was observed in the left frontal-parietal side with cortical atrophy in that area and a widening of the Sylvian fissure. A karyotype test confirmed the presence of Edward and Klinefelter syndromes.
CLINICAL DISCUSSION
Aneuploidy is a chromosomal issue characterized by an abnormal number of a chromosome copies. The coexistence of two aneuploidies is called "double aneuploidy" which is a rare occurrence. Herein, we report a case of a 2-month-old male with Edward syndrome and Klinefelter syndrome.
CONCLUSION
This publication aims to highlight the challenges in diagnosing and treating a complicated genetic disease.
PubMed: 38222680
DOI: 10.1097/MS9.0000000000001468 -
Cureus Dec 2023Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct heart abnormalities, which include an overriding aorta (where the aorta crosses...
Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct heart abnormalities, which include an overriding aorta (where the aorta crosses both ventricles), a ventricular septal defect (VSD), right ventricular hypertrophy (the right ventricle muscle is thickened), and pulmonary stenosis (the pulmonary valve and artery are narrowed). Individuals suffering from TOF may exhibit pinkness, cyanosis at baseline, or episodes of hypercyanosis. The pathoanatomy of the TOF allows blood from the pulmonary and systemic circulations to mix. Cyanosis is caused by the addition of deoxygenated blood from a shunt that runs from right to left to the systemic circulation. In this case report, we present a five-year-old female patient with a known case of TOF. The results were recorded using the Pediatric Quality of Life (PedsQL) Questionnaire, New York Heart Association (NYHA) Dyspnoea Scale, Wong-Baker Faces Pain Rating Scale, and arterial blood gas analysis. Therapy goals were to improve overall functional ability, to remove secretions from airway, and the return of acceptable cardiovascular function. This case report focuses on the success of the cardiorespiratory rehabilitation program based on the patient's current state of health. The outcome parameters confirm that patients can experience improved functional recovery.
PubMed: 38222209
DOI: 10.7759/cureus.50442 -
International Journal of Surgery Case... Sep 2023Pentaloy of fallot (POF) is a congenital cardiac anomaly that includes ventricular septal defect (VSD), pulmonary stenosis (PS), overriding of the aorta, and right...
A 20-year follow-up of successful surgical management for a complex case of pentalogy of fallot and dextrocardia with systemic and pulmonary venous anomalies: A rare case report.
INTRODUCTION AND IMPORTANCE
Pentaloy of fallot (POF) is a congenital cardiac anomaly that includes ventricular septal defect (VSD), pulmonary stenosis (PS), overriding of the aorta, and right ventricular hypertrophy. Dextrocardia, on the other hand, is a congenital condition in which the heart is right-sided. Rarely, both of these conditions can coexist. In this case, we report the 20-year follow-up results for the successful management of POF coexisting with Dextrocardia and other anomalies, which is the first described case in the literature.
CASE PRESENTATION
A 3.5-year-old boy was admitted to the hospital with the main complaint of cyanosis and dyspnea. He was diagnosed with POF. Intraoperative inspection further revealed a Double outlet right ventricle (DORV), and other cardiac anomalies. Total repair surgery was successfully performed. Follow-up results showed a normal postoperative status with no abnormalities. Mild exertional dyspnea was noted after 20 years, but the patient is currently in good health.
CLINICAL DISCUSSION
The coexistence of multiple congenital cardiac anomalies can make it challenging to be completely diagnosed, and for this purpose, different preoperative studies are recommended, like Echocardiography, cardiac catheterization, and Transabdominal echography. For the treatment of POF, pulmonary valve-sparing techniques have shown better long-term results, making them the preferred choice over other techniques.
CONCLUSION
Very few cases reported the occurrence of Dextrocardia with POF and additional cardiac anomalies. Echocardiography and Transabdominal echography play a very important role in the preoperative diagnosis of such complex cases. Surgery is the standard treatment for these congenital malformations.
PubMed: 37598487
DOI: 10.1016/j.ijscr.2023.108672 -
Radiology Case Reports Dec 2022Tetralogy of Fallot is the most common cyanotic congenital heart disease in children which comprises an overriding aorta, right ventricular outflow obstruction,...
Tetralogy of Fallot is the most common cyanotic congenital heart disease in children which comprises an overriding aorta, right ventricular outflow obstruction, ventricular septal defect, and right ventricular hypertrophy. It has an elevated early mortality rate without surgical correction, with most patients dying in childhood. Only 2% of patients survive past the age of 40 years without surgical intervention. Very few cases of survival to middle age have been reported, particularly after the fourth decade. In this article, we present a case of a 66-year-old male with an unoperated tetralogy of Fallot, which is one of the longest time periods of diagnosis. Despite tetralogy and having right ventricular dysfunction, this patient presented with fatigue, exertional dyspnea, cyanosis, and systemic hypertension. Considering the patient's comorbid conditions and the risk associated with the surgery, the patient was managed conservatively. To our knowledge, this is the oldest unoperated tetralogy of Fallot case reported in Nepal.
PubMed: 36281282
DOI: 10.1016/j.radcr.2022.09.062