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Birth Defects Research Jan 2024Tetralogy of Fallot (ToF) is a cyanotic congenital heart disease, composed of four malformations: persistent communication between the right and the left ventricle,... (Review)
Review
BACKGROUND
Tetralogy of Fallot (ToF) is a cyanotic congenital heart disease, composed of four malformations: persistent communication between the right and the left ventricle, pulmonary stenosis, overriding aorta, and right ventricle hypertrophy. The etiology of this disease is not entirely known as yet, but it has been proposed that the pathology has genetic components. During embryonic development, the fetus is exposed to a physiological hypoxia to facilitate the formation of blood vessels and blood cells through de novo processes.
METHODS
After researching scientific databases on the implications of oxygen on the normal and abnormal development of organs, especially the heart, we were able to propose that oxygen deprivation may be the cause of the disease.
RESULTS
During this period, the hypoxia-inducible factor is activated and triggers transcriptional responses that enable adaptation to the hypoxic environment through angiogenic activation. High levels of this protein can alter certain physiological pathways, such as those related to the vascular endothelial growth factor. Research has shown that prolonged oxygen deprivation during embryological development can lead to the occurrence of congenital heart diseases, such as ToF.
CONCLUSIONS
Studies using animal models have demonstrated that the deficiency or disruption of a protein called "CITED2," which plays an important role in cardiac morphogenesis and its loss, results in the alteration of pluripotent, cardiac, and neural lineage differentiation, thereby disrupting the normal development of the heart and other tissues.
Topics: Animals; Tetralogy of Fallot; Vascular Endothelial Growth Factor A; Heart Defects, Congenital; Hypoxia; Oxygen
PubMed: 38277413
DOI: 10.1002/bdr2.2279 -
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 -
Disease-a-month : DM Feb 2024Tetralogy of Fallot (TOF) is a complex congenital heart defect that poses unique challenges for both mothers and their unborn children. This comprehensive review, aims... (Review)
Review
Tetralogy of Fallot (TOF) is a complex congenital heart defect that poses unique challenges for both mothers and their unborn children. This comprehensive review, aims to provide a holistic exploration of the maternal-fetal dynamics, treatment strategies, and psychological dimensions involved in navigating the path of TOF during pregnancy. It delves into the physiological changes that occur during pregnancy in TOF patients, including pulmonary regurgitation, right ventricular hypertrophy, and the overriding aorta. By understanding these dynamics, healthcare professionals can tailor treatment strategies to optimize maternal and fetal outcomes. The review further investigates the treatment strategies employed in managing TOF during pregnancy, encompassing medical interventions, cardiac monitoring, and multidisciplinary care. It explores the role of advanced imaging techniques, such as echocardiography and cardiac magnetic resonance imaging, in assessing TOF severity and guiding treatment decisions. The psychological factors influencing maternal adaptation, coping strategies, and the long-term implications on the child's psychological development are also examined. The integration of multidisciplinary approaches, including cardiac care, psychosocial support, and mental health interventions, can orchestrate a harmonious symphony of maternal-fetal well-being in the challenging journey of TOF pregnancies. Future research endeavours should continue to explore these dimensions, further refining treatment strategies and enhancing the understanding of TOF pregnancies for improved outcomes.
Topics: Pregnancy; Female; Humans; Tetralogy of Fallot; Pulmonary Valve Insufficiency; Magnetic Resonance Imaging
PubMed: 37951837
DOI: 10.1016/j.disamonth.2023.101659 -
Echocardiography (Mount Kisco, N.Y.) Nov 2023Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease (CHD) in infants. The four components that constitute ToF are an overriding aorta over the... (Review)
Review
Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart disease (CHD) in infants. The four components that constitute ToF are an overriding aorta over the crest of the interventricular septum, obstruction in the right ventricular outflow tract, right ventricular hypertrophy, and a typically large non-restricted ventricular septal defect. ToF may also be associated with other extracardiac abnormalities, including patent ductus arteriosus or multiple aortopulmonary collateral arteries, which can impact the patient's survival. Patients with unoperated ToF rarely reach adulthood, and it is extremely rare to discover undiagnosed ToF in individuals over 60 years old. In this report, we describe an unusual case of a woman with unrepaired ToF who survived until the age of 71. She was fairly asymptomatic until the 7th decade of her life and complained only of dyspnea on exertion. The patient declined corrective cardiac surgery and preferred conservative management.
Topics: Aged; Female; Humans; Cyanosis; Ductus Arteriosus, Patent; Dyspnea; Hypertrophy, Right Ventricular; Tetralogy of Fallot
PubMed: 37632152
DOI: 10.1111/echo.15677 -
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 -
Echocardiography (Mount Kisco, N.Y.) Apr 2023Prenatal diagnosis of superior sinus venosus defect has never been reported in the literature. I describe here an echocardiographic sign which is helpful in diagnosing...
Superior caval vein partially overriding the interatrial septum-A fetal echocardiographic sign of superior sinus venosus defect. Reporting its rare association with coarctation of aorta in a fetus and its outcome.
Prenatal diagnosis of superior sinus venosus defect has never been reported in the literature. I describe here an echocardiographic sign which is helpful in diagnosing this defect in a 35 + 2 weeks fetus and its rare association with coarctation of aorta.
Topics: Female; Humans; Pregnancy; Aortic Coarctation; Vena Cava, Superior; Pulmonary Veins; Heart Septal Defects, Atrial; Echocardiography; Fetus
PubMed: 36943892
DOI: 10.1111/echo.15553 -
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 -
Frontiers in Physiology 2022Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns... (Review)
Review
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great vessels that are present at birth. CHD affects around 1% of all newborns worldwide. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5-10% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.
PubMed: 36277185
DOI: 10.3389/fphys.2022.1012665 -
Medicina (Kaunas, Lithuania) Jul 2022The most common congenital cyanotic heart disease is described in the literature as the Tetralogy of Fallot. This abnormality is characterized by the presence of...
The most common congenital cyanotic heart disease is described in the literature as the Tetralogy of Fallot. This abnormality is characterized by the presence of ventricular septal defect (VSD), obstruction of the right ventricular (RV) outflow tract, right ventricular hypertrophy, and overriding aorta. In patients with pulmonary atresia with ventricular septal defect (PA/VSD), major aortopulmonary collateral arteries (MAPCA) are common; however, although some of them do not have PA/VSD, they do have other particular anatomical variants. The case we are presenting in this article is a rare mild symptomatic adult noncorrected TOF, with preserved RV function, right aortic arch, and MAPCAs ("classic" thoracic MAPCAs but also abdominal MAPCAs). The anatomy of a complex congenital defect is well illustrated by cardiac magnetic resonance (CMR) and computer tomography angiography (CTA), and these imaging techniques are mostly used to understand the relative clinical "silence" TOF. Imaging scans thus play a key role in the evaluation of these patients, being very important to know the indications and limitations of each method, but also to learn to combine them with each other depending on the clinical picture of the patient's presentation. Additionally, the close collaboration between clinicians and imagers is essential for a correct, complete and detailed preoperative evaluation, being subsequently essential for cardiovascular surgeons, the whole team thus deciding the best therapeutic management.
Topics: Adult; Aorta, Thoracic; Collateral Circulation; Humans; Infant; Pulmonary Artery; Retrospective Studies; Survivors; Tetralogy of Fallot
PubMed: 36013478
DOI: 10.3390/medicina58081011