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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 -
BMC Medical Genetics Jul 2017Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade,...
BACKGROUND
Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.
METHODS
With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found.
RESULTS
In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart.
CONCLUSION
Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.
Topics: Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Heart Defects, Congenital; Heart Septal Defects, Ventricular; Humans; Intercellular Signaling Peptides and Proteins; Male; Mutation; Nodal Protein; Phenotype; Polymorphism, Single Nucleotide; Signal Transduction
PubMed: 28738792
DOI: 10.1186/s12881-017-0444-1 -
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 -
Romanian Journal of Morphology and... 2020The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing...
The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. About 94% of cases with 18q deletion syndrome appearance are de novo, and the remaining 6% are the inherited from a parent carrying a balanced chromosomal translocation. We present the case of a 35-year-old female who was admitted in our Unit for a second ultrasound opinion after being diagnosed at the second trimester scan at gestational age of 21 weeks of pregnancy with multiple brain and heart malformations, having the recommendation for fetal magnetic resonance imaging (MRI). Further investigations included genetic analysis and pathological examination. Major malformations diagnosed and confirmed were agenesis of the corpus callosum, ventriculomegaly with dilated fourth ventricle, partial agenesis of vermis, bilateral anophthalmia with wide nasal base and left cleft lip. Additional, cardiac malformation, with an important ventricular septal defect and overriding aorta were noted. The results of the microarray analysis showed an abnormal fetal karyotype with a loss of 30.5 basis identified in the long arm of chromosome 18. Although most of the cases of 18q deletion are sporadically or de novo, could be cases where the possible existing syndromes can be inherited from a healthy or mild affected parent. Therefore, in order to establish the recurrence risk, parental karyotypes are recommended.
Topics: Adult; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 18; Female; Fetus; Humans; Infant; Phenotype; Pregnancy
PubMed: 33817732
DOI: 10.47162/RJME.61.3.29 -
BMC Developmental Biology Jul 2015Nearly half of all individuals with Down Syndrome (DS) have some type of congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause it. We...
BACKGROUND
Nearly half of all individuals with Down Syndrome (DS) have some type of congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause it. We used a common mouse model of DS, the Ts65Dn mouse, to study the contribution of Tbx5, a known modifier of CHD, to heart defects on a trisomic backgroun. Mice that were heterozygous for a Tbx5 null allele were crossed with Ts65Dn mice. Thoraxes of progeny were fixed in 10% formalin, embedded in paraffin, and sectioned for analysis of CHD. Gene expression in embryonic hearts was examined by quantitative PCR and in situ hybridization. A TBX5 DNA binding site was verified by luciferase assays.
METHODS
Mice that were heterozygous for a Tbx5 null allele were crossed with Ts65Dn mice. Thoraxes of progeny were fixed in 10% formalin, embedded in paraffin, and sectioned for analysis of CHD. Gene expression in embryonic hearts was examined by quantitative PCR and in situ hybridization. A TBX5 DNA binding site was verified by luciferase assays.
RESULTS
We crossed mice that were heterozygous for a Tbx5 null allele with Ts65Dn mice. Mice that were trisomic and carried the Tbx5 mutation (Ts65Dn;Tbx5 (+/-) ) had a significantly increased incidence of overriding aorta compared to their euploid littermates. Ts65Dn;Tbx5 (+/-) mice also showed reduced expression of Pitx2, a molecular marker for the left atrium. Transcript levels of the trisomic Adamts1 gene were decreased in Tbx5 (+/-) mice compared to their euploid littermates. Evidence of a valid binding site for TBX5 upstream of the trisomic Adamts1 locus was also shown.
CONCLUSION
Haploinsufficiency of Tbx5 and trisomy affects alignment of the aorta and this effect may stem from deviations from normal left-right patterning in the heart. We have unveiled a previously unknown interaction between the Tbx5 gene and trisomy, suggesting a connection between Tbx5 and trisomic genes important during heart development.
Topics: Animals; Disease Models, Animal; Down Syndrome; Female; Gene Dosage; Heart Defects, Congenital; Male; Mice; Mice, 129 Strain; Mice, Inbred C3H; Mice, Inbred C57BL; T-Box Domain Proteins; Trisomy
PubMed: 26208718
DOI: 10.1186/s12861-015-0080-y -
Scientific Reports Dec 2017There is an unmet need for treatments to reduce abdominal aortic aneurysm (AAA) progression. Vascular smooth muscle cell (VSMC) apoptosis precipitates AAA formation,...
There is an unmet need for treatments to reduce abdominal aortic aneurysm (AAA) progression. Vascular smooth muscle cell (VSMC) apoptosis precipitates AAA formation, whereas VSMC proliferation repairs the vessel wall. We previously demonstrated that over-expression of EC4-Fc (truncated N-cadherin), or deletion of matrix-metalloproteinase-7 (Mmp-7) reduced VSMC apoptosis in mouse atherosclerotic plaques. Additionally, MMP-7 promotes VSMC apoptosis by cleavage of N-cadherin. We investigated their combined effect on AAA formation. Increased apoptosis and proliferation were observed in human AAA (HAAA) sections compared to normal aortae (HA). This coincided with increased MMP-7 activity and reduced N-cadherin protein levels in HAAA sections compared to HA. Using a mouse model of aneurysm formation, we showed that the combination of Mmp-7 deletion and EC4-Fc overexpression significantly increased AAA severity. Medial apoptosis and proliferation were both significantly reduced in these mice compared to control mice. In vitro, MMP-7 inhibition and EC4-Fc administration significantly supressed human aortic VSMC apoptosis (via activation of PI-3 kinase/Akt signalling) and proliferation. In conclusion, combined Mmp-7 deletion and systemic over-expression of EC4-Fc reduced both proliferation and apoptosis. Reduced proliferation-mediated repair over-rides any benefit of reduced apoptosis, increasing aneurysm severity. Future studies should therefore focus on retarding VSMC apoptosis whilst promoting VSMC proliferation.
Topics: Angiotensin II; Animals; Aorta; Aortic Aneurysm, Abdominal; Apolipoproteins E; Apoptosis; Cadherins; Cell Proliferation; Disease Models, Animal; Humans; Male; Matrix Metalloproteinase 7; Mice; Mice, Inbred C57BL; Mice, Knockout; Severity of Illness Index; Signal Transduction
PubMed: 29229950
DOI: 10.1038/s41598-017-17700-8 -
European Heart Journal. Case Reports Sep 2019Tetralogy of Fallot is a congenital heart defect characterized by pulmonary valve stenosis, ventricular septal defect (VSD), overriding aorta, and right ventricular...
BACKGROUND
Tetralogy of Fallot is a congenital heart defect characterized by pulmonary valve stenosis, ventricular septal defect (VSD), overriding aorta, and right ventricular hypertrophy. In its' extreme form, the pulmonary valve orifice does not develop during organogenesis, resulting in pulmonary atresia. We report a case of catheter ablation of symptomatic atrial fibrillation (AF) in a 37-year-old patient with congenital pulmonary atresia.
CASE SUMMARY
The young man described paroxysmal tachycardia correlating to AF episodes in the previously implanted event recorder. Computed tomography scan described the complex anatomy with congenital pulmonary atresia, VSD, and major aortopulmonary collateral arteries. Electroanatomical mapping revealed typical pulmonary vein electrograms in a hypotrophic left atrium. Modified pulmonary vein isolation was successfully performed and non-excitability of the ablation line was reached. The patient recovered uneventfully and event recorder interrogation showed no AF recurrence after 3 months.
DISCUSSION
Incidence of pulmonary atresia is low. Untreated survival rate is 50% after 1 year and 8% after 10 years. Tachycardia is a major cause of increased morbidity and mortality in patients with cyanotic congenital heart defects and pulmonary vein foci are described as driver for AF. Considerations preceding catheter ablation included pathophysiological mechanism, complex anatomy, atypical left atrium access, and reduced pulmonary perfusion resulting in a hypotrophic left atrium. Pulmonary veins showed typical electrograms, and isolation of pulmonary veins was feasible without adverse events.
PubMed: 31660488
DOI: 10.1093/ehjcr/ytz115 -
Journal of Investigative Medicine High... 2020Tetralogy of Fallot is the most common cyanotic congenital heart defect consisting of an overriding aorta, right ventricular outflow obstruction, ventricular septal...
Tetralogy of Fallot is the most common cyanotic congenital heart defect consisting of an overriding aorta, right ventricular outflow obstruction, ventricular septal defect, and right ventricular hypertrophy. Without surgical management, approximately only 3% of patients survive past the age of 40 years. Cases of unoperated patients reaching adulthood have been reported; however, few studies describe treatment guidelines for surgical or therapeutic management. In this article, we report the case of a 59-year-old Hispanic male with unoperated tetralogy of Fallot presenting to our cardiology clinic for initial workup and management.
Topics: Anticoagulants; Atrial Fibrillation; Cardiac Catheterization; Disease Management; Eisenmenger Complex; Electrocardiography; Humans; Hypertension, Pulmonary; Hypertrophy, Right Ventricular; Male; Middle Aged; Radiography, Thoracic; Survivors; Tetralogy of Fallot
PubMed: 32462941
DOI: 10.1177/2324709620926908 -
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 -
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