Tetralogy of Fallot and transverse aortic coarctation: A rare coexistence and its treatment.
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SUBMITTER: Dogan E
PROVIDER: S-EPMC8504659 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
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Tetralogy of Fallot and transverse aortic coarctation: A rare coexistence and its treatment.
Doğan Eser E Karaçelik Mustafa M Yılmazer Murat Muhtar MM Meşe Timur T Bilen Çağatay Ç Zihni Cüneyt C Gerçeker Engin E Vuran Gamze G Murat Mehmet M Karahan Ceren C
Anatolian journal of cardiology 20211001 10
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| S-EPMC3232559 | biostudies-literature
Project description:ObjectiveRare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF).Methods and resultsWe sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1) in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.SignificanceThis study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.
| S-EPMC4122343 | biostudies-literature
Project description:Thrombocytopenia absent radius (TAR) syndrome is a very rare and infrequently seen congenital disorder with an approximate frequency of 0.42/100,000 live births. It is associated with bilateral absence of radii, hypo-megakaryocytic thrombocytopenia, and presence of both thumbs. The other systems which are affected by TAR syndrome include skeletal, hematologic, and cardiac systems. Intracranial hemorrhages due to thrombocytopenia and cardiac disorders are a common association usually seen with this syndrome and are usual cause of death. We describe a 3-month-old infant who was diagnosed with TAR syndrome on the basis of clinical features (thrombocytopenia and bilateral absent radius bone and confirmed by genetic analysis). The patient was diagnosed to have Tetralogy of Fallot, for which the infant was managed with definitive repair and thrombocytopenia was managed with platelet transfusion. Infants with TAR syndrome should be assessed for other associated malformations of various systems and followed up regularly and parents should be counseled for associated expected complications in these patients. We report an infant with TAR syndrome with Tetralogy of Fallot, which has not been reported in medical literature until now and this is the first case of its type.
| S-EPMC4381885 | biostudies-literature
Project description:Brain abscess is a rarely occurring fatal complication accounting for 5%–18.7% of the population with cyanotic congenital heart diseases. Cyanotic heart diseases are associated with a right-to-left shunt that bypasses pulmonary circulation and results in tissue hypoxia and cyanosis. The most common cyanotic congenital anomaly seen is the tetralogy of Fallot. Herein, we discuss a case of uncorrected tetralogy of Fallot presenting as a parieto-occipital abscess in a 13-year-old boy. The patient was managed conservatively on intravenous antibiotics due to the small size of the abscess and then referred to cardiothoracic surgeons for the repair of the defect. The purpose of reporting this case is to highlight the importance of early detection and correction of cardiac defects to prevent serious complications resulting in childhood morbidity and mortality.
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| S-EPMC1894716 | biostudies-literature
Project description:PurposeRare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.MethodsWe conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF. We studied gene-targeted mice and conducted cell-based assays to explore the role of KDR genetic variation in the etiology of TOF.ResultsExome sequencing in a family with two siblings affected by TOF revealed biallelic missense variants in KDR. Studies in knock-in mice and in HEK 293T cells identified embryonic lethality for one variant when occurring in the homozygous state, and a significantly reduced VEGFR2 phosphorylation for both variants. Rare variant burden analysis conducted in a set of 1,569 patients of European descent with TOF identified a 46-fold enrichment of protein-truncating variants (PTVs) in TOF cases compared to controls (P = 7 × 10-11).ConclusionRare KDR variants, in particular PTVs, strongly associate with TOF, likely in the setting of different inheritance patterns. Supported by genetic and in vivo and in vitro functional analysis, we propose loss-of-function of VEGFR2 as one of the mechanisms involved in the pathogenesis of TOF.
| S-EPMC8486653 | biostudies-literature
Project description:Pulmonary regurgitation is the most important sequellae after correction of Tetralogy of Fallot and has a considerable impact over the right ventricle. Surgery has demonstrated low early mortality after pulmonary valve replacement and good long-term outcomes, remaining nowadays the gold standard treatment of pulmonary regurgitation in rTOF patients. Nevertheless, transcatheter pulmonary valve implantation has emerged as a new, safe and efficient alternative to surgical valve replacement. In this review article, we try to evaluate and compare both techniques to find out which is the best therapeutic option in this patients.
| S-EPMC7475380 | biostudies-literature
Project description:Background Thoracic aortic aneurysm is common in patients with tetralogy of Fallot ( TOF ); the incidence of thoracic aortic dissection ( TAD ) is unknown, but generally considered to be uncommon. The purpose of this study was to determine incidence and risk factors for TAD in TOF patients. Methods and Results This work is a retrospective review of the National Inpatient Sample ( NIS ) database for cases of ascending TAD among all hospital admissions in adults with TOF , 2000-2014. Of 18 353 admissions in TOF patients, 11 (0.06%; 6 per 10 000 admissions) of these were TAD -related admissions. For the TAD -related admissions, mean age was 49.8±7.2 years; aortic surgical interventions were performed during 8 of the admissions, and overall in-hospital mortality was 45% (5 of 11). Risk factors associated with TAD -related admission were age >60 years (odds ratio, 2.41; 95% CI, 1.23-3.25; P=0.013), male sex ( odds ratio, 6.91; 95% CI, 4.85-8.54; P<0.001), and hypertension (odds ratio, 1.74; 95% CI, 1.06-3.19; P=0.037). Conclusions This is the first population-based study of TAD outcomes in patients with TOF , and it showed a low risk of TAD in this population. This has important clinical implication with regard to surveillance and surgical intervention. Given that prevalence of thoracic aortic aneurysm is higher in TOF patients compared with the general population; therefore, making clinical decisions based on outcomes data and practice guidelines derived from patients with degenerative and bicuspid aortic valve-related aortopathies may lead to overtreatment. Further studies are required to better understand the pathobiology of this disease in order to make evidence-based recommendations for surveillance and treatment.
| S-EPMC6475048 | biostudies-literature
Project description:Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology of TOF. Using high-resolution genome-wide microarrays and stringent calling methods, we investigated rare CNVs in a prospectively recruited cohort of 433 unrelated adults with TOF and/or pulmonary atresia at a single centre. We excluded those with recognized syndromes, including 22q11.2 deletion syndrome. We identified candidate genes for TOF based on converging evidence between rare CNVs that overlapped the same gene in unrelated individuals and from pathway analyses comparing rare CNVs in TOF cases to those in epidemiologic controls. Even after excluding the 53 (10.7%) subjects with 22q11.2 deletions, we found that adults with TOF had a greater burden of large rare genic CNVs compared to controls (8.82% vs. 4.33%, p?=?0.0117). Six loci showed evidence for recurrence in TOF or related congenital heart disease, including typical 1q21.1 duplications in four (1.18%) of 340 Caucasian probands. The rare CNVs implicated novel candidate genes of interest for TOF, including PLXNA2, a gene involved in semaphorin signaling. Independent pathway analyses highlighted developmental processes as potential contributors to the pathogenesis of TOF. These results indicate that individually rare CNVs are collectively significant contributors to the genetic burden of TOF. Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models.
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