Complex Tetralogy of Fallot in an Acyanotic Adult Dog.
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ABSTRACT:
SUBMITTER: Malcolm EL
PROVIDER: S-EPMC10954675 | biostudies-literature | 2024 Mar
REPOSITORIES: biostudies-literature
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Complex Tetralogy of Fallot in an Acyanotic Adult Dog.
Malcolm Elizabeth L EL Saunders Ashley B AB
CASE (Philadelphia, Pa.) 20240308 3Part A
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Project description: Not available
| S-EPMC1861206 | biostudies-literature
Project description:Tetralogy of Fallot (TOF) is the most common congenital cyanotic heart disease and is characterized by an antero-superior deviation of the infundibular septum with a consequent large malaligned ventricular septal defect (VSD) and a pulmonary and sub-pulmonary (infundibular) stenosis. Surgical repair has been the cornerstone of treatment that is electively performed early in their lives between 3 and 6 months of age. With advancements in transcatheter interventions, the complete percutaneous repair of TOF, a complex disease with multiple treatable lesions, is becoming a conceivable possibility. Here, we report the case of total transcatheter correction of an 18-year-old boy with TOF, performed in two stages. The first stage involved addressing the right ventricular outflow tract (RVOT) obstruction with balloon pulmonary valvuloplasty (BPV) and occluding the conal artery using absolute alcohol and a coil. In the second stage, the VSD was closed with a Multifunctional Occluder (MFO) Konar device 14 -12 mm (Lifetech, China). While surgical treatment remains the gold standard for total correction of TOF, the transcatheter approach can also be considered for selected group of patients who are surgically turned-down.
| S-EPMC11657948 | biostudies-literature
Project description: Not available
| S-EPMC1894716 | biostudies-literature
Project description:Remodeling in adults with repaired tetralogy of Fallot (rToF) may occur due to chronic pulmonary regurgitation, but may also be related to altered flow patterns, including vortices. We aimed to correlate and quantify relationships between vorticity and ventricular shape derived from atlas-based analysis of biventricular shape. Adult rToF (n = 12) patients underwent 4D flow and cine MRI imaging. Vorticity in the RV was computed after noise reduction using a neural network. A biventricular shape atlas built from 95 rToF patients was used to derive principal component modes, which were associated with vorticity and pulmonary regurgitant volume (PRV) using univariate and multivariate linear regression. Univariate analysis showed that indexed PRV correlated with 3 modes (r = -0.55,-0.50, and 0.6, all p < 0.05) associated with RV dilatation and an increase in basal bulging, apical bulging and tricuspid annulus tilting with more severe regurgitation, as well as a smaller LV and paradoxical movement of the septum. RV outflow and inflow vorticity were also correlated with these modes. However, total vorticity over the whole RV was correlated with two different modes (r = -0.62,-0.69, both p < 0.05). Higher vorticity was associated with both RV and LV shape changes including longer ventricular length, a larger bulge beside the tricuspid valve, and distinct tricuspid tilting. RV flow vorticity was associated with changes in biventricular geometry, distinct from associations with PRV. Flow vorticity may provide additional mechanistic information in rToF remodeling. Both LV and RV shapes are important in rToF RV flow patterns.
| S-EPMC8813860 | biostudies-literature
Project description:BackgroundAdults with unrepaired tetralogy of Fallot (ToF) are common in developing countries. Long-term overload of the right ventricle places adult patients at risk for postoperative right heart failure after primary repair, which contributes to morbidity and mortality. The effect of pulmonary valve replacement (PVR) in reducing postoperative morbidity and mortality in adults has never been validated.MethodsWe conducted a retrospective cohort study in adults (age ≥18 years) with ToF undergoing primary repair from January 2014 to December 2019 at our institution. Patients were divided into three groups according to techniques used to enlarge the right ventricle outflow tract (RVOT). Baseline variables and perioperative outcomes were collected. The primary endpoint was operative mortality. Secondary endpoints were incidences of right heart failure and stage 3 acute kidney injury (AKI).ResultsA total of 56 patients were enrolled (mean age 41.5±11.7 years, 30 females, 53.6%). They were divided into three groups designated as the following: TA-PVR group for trans-annular patch enlargement with PVR; TA group for trans-annulus patch enlargement without PVR; and group AP for annulus preservation. Four patients (7.1%) died postoperatively, all due to right heart failure. All twelve patients in the TA-PVR group survived. There was no significant difference in mortalities among groups. Ten patients (17.9%) developed right heart failure after surgery with no significant difference among groups. Three patients (5.4%) developed stage 3 AKI after surgery, none belonging to the TA-PVR group, however, not statistically significant.ConclusionsRight heart failure is a common complication after primary repair of adult ToF. Trans-annulus patch enlargement should be cautiously selected in this population. PVR with trans-annulus patch enlargement may be a promising technique to protect against postoperative right heart failure and mortality when annulus preservation is not feasible.
| S-EPMC7578467 | biostudies-literature
Project description:In many cases congenital heart disease (CHD) is represented by a complex phenotype and an array of several functional and morphological cardiac disorders. These malformations will be briefly summarized in the first part focusing on two severe CHD phenotypes, hypoplastic left heart syndrome (HLHS) and tetralogy of Fallot (TOF). In most cases of CHD the genetic origin remains largely unknown, though the complexity of the clinical picture strongly argues against a dysregulation which can be attributed to a single candidate gene but rather suggests a multifaceted polygenetic origin with elaborate interactions. Consistent with this idea, genome-wide approaches using whole exome sequencing, comparative sequence analysis of multiplex families to identify de novo mutations and global technologies to identify single nucleotide polymorphisms, copy number variants, dysregulation of the transcriptome and epigenetic variations have been conducted to obtain information about genetic alterations and potential predispositions possibly linked to the occurrence of a CHD phenotype. In the second part of this review we will summarize and discuss the available literature on identified genetic alterations linked to TOF and HLHS.
| S-EPMC4460219 | biostudies-literature
Project description:Thanks to advances in pediatric cardiology, most infants with tetralogy of Fallot (TOF) now survive into adulthood. This relatively new population of adult patients may face long-term complications, including pulmonary regurgitation (PR), right ventricular (RV) tract obstruction, residual shunts, RV dysfunction, and arrythmias. They will often need to undergo pulmonary valve (PV) replacement and other invasive re-interventions. However, the optimal timing for these procedures is challenging, largely due to the complexity of evaluating RV volume and function. The options for the follow-up of these patients have rapidly evolved from an angiography-based approach to the surge of advanced imaging techniques, mainly echocardiography, cardiac magnetic resonance (CMR), and computer tomography (CT). In this review, we outline the indications, strengths and limitations of these modalities in the adult TOF population.
| S-EPMC7475417 | biostudies-literature
Project description:BackgroundThe relationship between plasma brain natriuretic peptide (NT-proBNP) and soluble suppression of tumorigenicity-2 (sST2) with structural adaptions and exercise capacity remains incompletely described in patients with repaired Tetralogy of Fallot (rTOF).MethodsPeripheral venous blood samples were drawn for 99 patients with repaired TOF, 59 patients with severe pulmonary regurgitation (PR) and 40 patients with no or mild PR. NT-proBNP was measured using enzyme-linked immunosorbent assays (Roche Diagnostics, Indianapolis, IN). Soluble ST2 levels were assessed on Aspect-plus ST2 quantitative rapid test.ResultsThe mean value of NT-proBNP was 160 ± 137 pg/ml, and sST2 was 29 ± 13, ng/ml in the entire population. 58 % had an elevated NT-proBNP, while sST2 was abnormal in 40 %. Mean NT-proBNP was significantly higher in patients with severe PR (169 ± 150 vs145 ± 118, pg/ml, p < 0.001), while similar sST2 levels were observed in both groups (29 ± 14 vs30 ± 12, ng/ml, p > 0.05). NT-proBNP and sST2 levels were higher in patients with transannular patch when compared to other RVOT intervention (174 ± 145 vs 107 ± 100, pg/ml, p < 0.001); (31 ± 13 vs 29 ± 15, ng/ml, p < 0.05). Both biomarkers were significantly associated with exercise capacity, but NT-proBNP (r = -0.60, p < 0.001) was stronger. The optimal cut-off of 90 pg/ml for NT-proBNP had a sensitivity of 74 % and specificity of 63 % for detection of impaired exercise capacity.ConclusionsSerum levels of sST2 and NT-proBNP are elevated in patients with repaired TOF, with higher values observed in those with severe PR, but also in patients undergoing transannular patch repair. Incorporating both markers in these patients increased the ability to detect impairment in exercise capacity.
| S-EPMC11657782 | biostudies-literature
Project description:BackgroundAlagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent advancements in genetic testing have revealed that clinical presentations vary from lack of symptoms, to multiorgan involvement. Tetralogy of Fallot, the most frequent complex congenital heart defect in Alagille Syndrome, very rarely leads to renal failure requiring dialysis - there are only single reports of such cases in the literature, with none of them in Alagille Syndrome.Case presentationA 41-year-old woman suffering from cyanosis, dyspnea and plethora was admitted to the hospital. The patient suffered from chronic kidney disease and tetralogy of Fallot and had been treated palliatively with Blalock-Taussig shunts in the past; at admission, only minimal flow through the left shunt was preserved. These symptoms, together with impaired mental status and dysmorphic facial features, led to extensive clinical and genetic testing including whole exome sequencing. A previously unknown missense variant c.587G > A within the JAG1 gene was identified. As there were no signs of cholestasis, and subclinical liver involvement was only suggested by elevated alkaline phosphatase levels, the patient was diagnosed with incomplete Alagille Syndrome. End-stage renal disease required introduction of renal replacement therapy. Continuous ambulatory peritoneal dialysis was chosen and the patient's quality of life significantly increased. However, after refusal of further treatment, the patient died at the age of 45.ConclusionsTetralogy of Fallot should always urge clinicians to evaluate for Alagille Syndrome and offer patients early nephrological care. Although tetralogy of Fallot rarely leads to end-stage renal disease requiring dialysis, if treated palliatively and combined with renal dysplasia (typical of Alagille Syndrome), it can result in severe renal failure as in the presented case. There is no standard treatment for such cases, but based on our experience, peritoneal dialysis is worth consideration. Finally, clinical criteria for the diagnosis of Alagille Syndrome require revision. Previously, diagnosis was based on cholestasis - however, cardiovascular anomalies are found to be more prevalent. Furthermore, the criteria do not include renal impairment, which is also common.
| S-EPMC7532568 | biostudies-literature
Project description:This report describes one of the early cases of open surgical correction of tetralogy of Fallot performed by C. Walton Lillehei and colleagues at the University of Minnesota and discusses findings from the patient's follow-up 60 years later.
| S-EPMC6301050 | biostudies-literature