Talk:Cardiovascular System - Tetralogy of Fallot
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Cite this page: Hill, M.A. (2024, April 19) Embryology Cardiovascular System - Tetralogy of Fallot. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Cardiovascular_System_-_Tetralogy_of_Fallot |
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Note - This sub-heading shows an automated computer PubMed search using the listed sub-heading term. References appear in this list based upon the date of the actual page viewing. Therefore the list of references do not reflect any editorial selection of material based on content or relevance. In comparison, references listed on the content page and discussion page (under the publication year sub-headings) do include editorial selection based upon relevance and availability. (More? Pubmed Most Recent)
Tetralogy of Fallot
<pubmed limit=5>Tetralogy of Fallot</pubmed>
2018
Primary repair versus surgical and transcatheter palliation in infants with tetralogy of Fallot
Heart. 2018 May 2. pii: heartjnl-2018-312958. doi: 10.1136/heartjnl-2018-312958. [Epub ahead of print]
Dorobantu DM1,2,3, Mahani AS4, Sharabiani MTA5, Pandey R1, Angelini GD3, Parry AJ1, Tulloh RMR1,3, Martin RP1, Stoica SC1,3. Author information Abstract OBJECTIVES: Treatment of infants with tetralogy of Fallot (ToF) has evolved in the last two decades with increasing use of primary surgical repair (PrR) and transcatheter right ventricular outflow tract palliation (RVOTd), and fewer systemic-to-pulmonary shunts (SPS). We aim to report contemporary results using these treatment options in a comparative study. METHODS: This a retrospective study using data from the UK National Congenital Heart Disease Audit. All infants (n=1662, median age 181 days) with ToF and no other complex defects undergoing repair or palliation between 2000 and 2013 were considered. Matching algorithms were used to minimise confounding due to lower age and weight in those palliated. RESULTS: Patients underwent PrR (n=1244), SPS (n=311) or RVOTd (n=107). Mortality at 12 years was higher when repair or palliation was performed before the age of 60 days rather than after, most significantly for primary repair (18.7% vs 2.2%, P<0.001), less so for RVOTd (10.8% vs 0%, P=0.06) or SPS (12.4% vs 8.3%, P=0.2). In the matched groups of patients, RVOTd was associated with more right ventricular outflow tract (RVOT) reinterventions (HR=2.3, P=0.05 vs PrR, HR=7.2, P=0.001 vs SPS) and fewer pulmonary valve replacements (PVR) (HR=0.3 vs PrR, P=0.05) at 12 years, with lower mortality after complete repair (HR=0.2 versus PrR, P=0.09). CONCLUSIONS: We found that RVOTd was associated with more RVOT reinterventions, fewer PVR and fewer deaths when compared with PrR in comparable, young infants, especially so in those under 60 days at the time of the first procedure. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. KEYWORDS: congenital heart disease surgery; pulmonic valve disease; tetralogy of fallot; transcatheter valve interventions PMID: 29720396 DOI: 10.1136/heartjnl-2018-312958
2016
Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot: A Meta-analysis of Perinatal Outcomes and Associated Genetic Disorders
J Ultrasound Med. 2016 Mar 28. pii: 15.04055. [Epub ahead of print]
Zhao Y1, Abuhamad A2, Fleenor J3, Guo Y4, Zhang W5, Cao D6, Zeng S6, Sinkovskaya E2, Zhou Q6.
Abstract
OBJECTIVES: The aim of this systematic review was to compare the postnatal outcomes, genetic testing results, and sonographic findings in 3 subtypes of tetralogy of Fallot. METHODS: Thirty-six articles from the MEDLINE and EMBASE databases were selected for this review. The postnatal outcomes, karyotyping results, and sonographic findings of fetal tetralogy of Fallot with pulmonary stenosis, tetralogy of Fallot with pulmonary atresia, and tetralogy of Fallot with an absent pulmonary valve were collected and compared. RESULTS: The survival rates (termination of pregnancy was considered fetal death) for prenatally diagnosed tetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve at the end of neonatal period were significantly lower than the rate for tetralogy of Fallot with pulmonary stenosis (P < .05). The survival rate for tetralogy of Fallot with pulmonary atresia was also lower at birth (P < .001). Major chromosomal anomalies were more frequently detected in tetralogy of Fallot with pulmonary stenosis (P< .05); conversely, 22q11 deletion was present more often in fetuses with tetralogy of Fallot with pulmonary atresia and tetralogy of Fallot with an absent pulmonary valve (P < .001). Compared to tetralogy of Fallot with pulmonary stenosis, a right aortic arch was more associated with tetralogy of Fallot with pulmonary atresia (32.6%; P < .05), and the ductus arteriosus was almost always absent in tetralogy of Fallot with an absent pulmonary valve (87.5%; P < .001). CONCLUSIONS: The postnatal outcomes, genetic testing results, and sonographic findings are different among subtypes of tetralogy of Fallot. Documenting those details at diagnosis can help specialists better counsel their patients. © 2016 by the American Institute of Ultrasound in Medicine. KEYWORDS: absent ductus arteriosus; chromosomal anomaly; fetal echocardiography; fetus; right aortic arch; tetralogy of Fallot PMID 27022172
2015
Tetralogy of Fallot: General Principles of Management
Cardiol Clin. 2015 Nov;33(4):531-41. doi: 10.1016/j.ccl.2015.07.002. Epub 2015 Aug 29.
Downing TE1, Kim YY2.
Abstract
Repaired tetralogy of Fallot (TOF) is one of the most common diagnoses encountered when caring for adults with congenital heart disease. Although long-term survival after childhood TOF repair is excellent, morbidity is common and most patients require reintervention in adulthood. This review provides an overview of key surveillance and management issues for adults with TOF, including residual right ventricular outflow tract disease and timing of pulmonary valve replacement, arrhythmias and risk stratification, left-sided heart disease and heart failure, and pregnancy management. Copyright © 2015 Elsevier Inc. All rights reserved. KEYWORDS: Adults with congenital heart disease; Arrhythmia; Pregnancy; Pulmonary regurgitation; Pulmonary valve replacement; Tetralogy of Fallot
PMID 26471818
2013
GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot
Int J Med Sci. 2013;10(1):34-42. doi: 10.7150/ijms.5270. Epub 2012 Dec 10.
Wei D, Bao H, Liu XY, Zhou N, Wang Q, Li RG, Xu YJ, Yang YQ. Source 1. Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China;
Abstract
Tetraology of Fallot (TOF) is the most common form of cyanotic congenital heart disease and is a major cause of significant morbidity and mortality. Emerging evidence demonstrates that genetic risk factors are involved in the pathogenesis of TOF. However, TOF is genetically heterogeneous and the genetic defects responsible for TOF remain largely unclear. In the present study, the whole coding region of the GATA5 gene, which encodes a zinc-finger transcription factor essential for cardiogenesis, was sequenced in 130 unrelated patients with TOF. The relatives of the index patients harboring the identified mutations and 200 unrelated control individuals were subsequently genotyped. The functional characteristics of the mutations were analyzed using a luciferase reporter assay system. As a result, 2 novel heterozygous GATA5 mutations, p.R187G and p.H207R, were identified in 2 families with autosomal dominantly inherited TOF, respectively. The variations were absent in 400 control alleles and the altered amino acids were completely conserved evolutionarily. Functional analysis showed that the GATA5 mutants were associated with significantly decreased transcriptional activation compared with their wild-type counterpart. To our knowledge, this is the first report on the association of GATA5 loss-of-function mutations with TOF, suggesting potential implications for the early prophylaxis and allele-specific therapy of human TOF.
PMID 23289003
Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
Hum Mol Genet. 2013 Jan 8. [Epub ahead of print]
Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Riveron JG, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA.
Source
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Abstract
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 controls. A region on chromosome 12q24 was associated (P = 1.4 × 10(-7)) and replicated convincingly (P = 3.9 × 10(-5)) in 798 cases and 2931 controls [per allele odds ratio (OR) = 1.27 in replication cohort, P = 7.7 × 10(-11) in combined populations]. Single nucleotide polymorphisms in the glypican 5 gene on chromosome 13q32 were also associated (P = 1.7 × 10(-7)) and replicated convincingly (P = 1.2 × 10(-5)) in 789 cases and 2927 controls (per allele OR = 1.31 in replication cohort, P = 3.03 × 10(-11) in combined populations). Four additional regions on chromosomes 10, 15 and 16 showed suggestive association accompanied by nominal replication. This study, the first genome-wide association study of a congenital heart malformation phenotype, provides evidence that common genetic variation influences the risk of TOF.
PMID 23297363
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
J Thorac Cardiovasc Surg. 2013 Jan 10. pii: S0022-5223(12)01572-3. doi: 10.1016/j.jtcvs.2012.12.028. [Epub ahead of print]
Mercer-Rosa L, Pinto N, Yang W, Tanel R, Goldmuntz E. Source Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address: mercerrosal@email.chop.edu.
Abstract
OBJECTIVE: We sought to investigate the impact of 22q11.2 deletion on perioperative outcome in tetralogy of Fallot. METHODS: We conducted a retrospective review of patients with tetralogy of Fallot who underwent complete surgical reconstruction at The Children's Hospital of Philadelphia between 1995 and 2006. Inclusion criteria included diagnosis of tetralogy of Fallot and known genotype. Fisher exact and Mann-Whitney tests were used for categoric and continuous variables, respectively. Regression analysis was used to determine whether deletion status predicts outcome. RESULTS: We studied 208 subjects with tetralogy of Fallot, 164 (79%) without and 44 (20%) with 22q11.2 deletion syndrome. There were no differences in sex, race, gestational age, age at diagnosis, admission weight, and duration of mechanical ventilation. Presenting anatomy, survival, complications and reoperations were also comparable between patients with and without 22q11.2 deletion syndrome. Those with 22q11.2 deletion syndrome had more aortopulmonary shunts preceding complete surgical repair (21% vs 7%, P = .02). This association was present after adjustment for presenting anatomy (stenosis, atresia, or absence of pulmonary valve and common atrioventricular canal) and surgical era. In addition, those with 22q11.2 deletion syndrome had longer cardiopulmonary bypass time (84 vs 72 minutes, P = .02) and duration of intensive care (6 vs 4 days, P = .007). CONCLUSIONS: Genotype affects early operative outcomes in tetralogy of Fallot resulting, in particular, in longer duration of intensive care. Future studies are required to determine factors contributing to such differences in this susceptible population. Copyright © 2013 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.
PMID 23312975
Causes of death in tetralogy of Fallot in adults - An autopsy study
Int J Cardiol. 2013 Jan 11. pii: S0167-5273(12)01659-2. doi: 10.1016/j.ijcard.2012.12.030. [Epub ahead of print]
O'Meagher S, Choudhary P, Duflou J, Puranik R, Celermajer DS. Source The University of Sydney, Faculty of Medicine, Sydney, Australia; Royal Prince Alfred Hospital, Department of Cardiology, Sydney, Australia. Electronic address: shamus.omeagher@sswahs.nsw.gov.au.
PMID 23317550
Editorial Comment: Tetralogy of Fallot: a larger infundibular incision in a transatrial repair eliminates the risk of a reoperation for a right ventricular outflow tract obstruction
Eur J Cardiothorac Surg. 2013 Feb;43(2):342-3. doi: 10.1093/ejcts/ezs292.
d'Udekem Y. Source Department of Cardiac Surgery, Royal Children's Hospital, Melbourne, Australia. PMID 23319488
2012
Recent trends in indications of fetal echocardiography and postnatal outcomes in fetuses diagnosed as congenital heart disease
Korean Circ J. 2012 Dec;42(12):839-44. doi: 10.4070/kcj.2012.42.12.839. Epub 2012 Dec 31.
Cha S, Kim GB, Kwon BS, Bae EJ, Noh CI, Lim HG, Kim WH, Lee JR, Kim YJ, Choi JY. Source Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. Abstract BACKGROUND AND OBJECTIVES: We hypothesized that fetal echocardiography (echoCG) is an accurate diagnostic tool reflecting well postnatal echoCG findings and outcomes. SUBJECTS AND METHODS: We reviewed the medical records of 290 pregnant women, including 313 fetuses, who were examined by fetal echoCG at the Seoul National University Children's Hospital from January 2008 through April 2011. RESULTS: The mean gestational age at diagnosis was 26.2±5.2 weeks. The mean age of mothers at diagnosis was 31.7±3.8 years. We identified indications for fetal echoCG in 279 cases. The most common indication was abnormal cardiac findings in obstetrical screening sonography (52.0%). Among the 313 echoCG results, 127 (40.6%) were normal, 13 (4.2%) were minor abnormalities, 35 (11.2%) were simple cardiac anomalies, 50 (16.0%) were moderate cardiac anomalies, 60 (19.2%) were complex cardiac anomalies, 16 (5.1%) were arrhythmias, and 12 (3.8%) were twin-to-twin transfusion syndrome. The most common congenital heart disease was tetralogy of Fallot (23 fetuses, 15.9%). One hundred forty-eight neonates were examined by echoCG. We analyzed differences between fetal echoCG and postnatal echoCG. In 131 (88.5%) cases, there was no difference; in 15 (10.1%), there were minor differences; and in only 2 (1.4%) cases, there were major differences. CONCLUSION: There is a recent increase in abnormal cardiac findings of obstetric ultrasonography screenings that indicate fetal echoCG. Fetal echoCG is still a good, accurate diagnostic method for congenital heart disease.
PMID 23323122
2011
2009
Tetralogy of Fallot
Orphanet J Rare Dis. 2009 Jan 13;4:2. doi: 10.1186/1750-1172-4-2.
Bailliard F, Anderson RH. Source North Carolina Children's Heart Center, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. frederique_bailliard@med.unc.edu
Abstract
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. This combination of lesions occurs in 3 of every 10,000 live births, and accounts for 7-10% of all congenital cardiac malformations. Patients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22. The risk of recurrence in families is 3%. Useful diagnostic tests are the chest radiograph, electrocardiogram, and echocardiogram. The echocardiogram establishes the definitive diagnosis, and usually provides sufficient information for planning of treatment, which is surgical. Approximately half of patients are now diagnosed antenatally. Differential diagnosis includes primary pulmonary causes of cyanosis, along with other cyanotic heart lesions, such as critical pulmonary stenosis and transposed arterial trunks. Neonates who present with ductal-dependent flow to the lungs will receive prostaglandins to maintain ductal patency until surgical intervention is performed. Initial intervention may be palliative, such as surgical creation of a systemic-to-pulmonary arterial shunt, but the trend in centres of excellence is increasingly towards neonatal complete repair. Centres that undertake neonatal palliation will perform the complete repair at the age of 4 to 6 months. Follow-up in patients born 30 years ago shows a rate of survival greater than 85%. Chronic issues that now face such adults include pulmonary regurgitation, recurrence of pulmonary stenosis, and ventricular arrhythmias. As the strategies for surgical and medical management have progressed, the morbidity and mortality of those born with tetralogy of Fallot in the current era is expected to be significantly improved. PMID 19144126
2004
Repair of complete atrioventricular septal defect with tetralogy of fallot: our experience and literature review
J Card Surg. 2004 Mar-Apr;19(2):175-83.
Prifti E, Bonacchi M, Bernabei M, Leacche M, Bartolozzi F, Murzi B, Battaglia F, Nadia NS, Vanini V. Source Department of Pediatric Cardiac Surgery, G. Pasquinucci Hospital, Massa, Italy. Abstract OBJECTIVES: The aim of this report is to describe the rationale of our surgical approach, to explore the best management for complete atrioventricular septal defect associated with the tetralogy of Fallot (CAVSD-TOF), and to present our outcome in relation to the previously reported series. MATERIALS AND METHODS: Between January 1990 and January 2002, 17 consecutive children with CAVSD-TOF underwent complete correction. Nine patients (53%) underwent previous palliation. Mean age at repair was 2.9 +/- 1.9 years. Mean gradient across the right ventricular outflow tract was 63 +/- 16 mmHg. All children underwent closure of septal defect with a one-patch technique, employing autologous pericardial patch. Maximal tissue was preserved for LAVV reconstruction by making these incisions along the RV aspect of the ventricular septal crest. LAVV annuloplasty was performed in 10 (59%) patients. Six patients (35%) required a transannular patch. RESULTS: Three (17.6%) hospital deaths occurred in this series. Causes of death included progressive heart failure in two patients and multiple organ failure in the other patient. Two patients required mediastinal exploration due to significant bleeding. Dysrhythmias were identified in 4 of 11 patients undergoing a right ventriculotomy versus none of the patients undergoing a transatrial transpulmonary approach (p = ns). The mean intensive care unit stay was 3.2 +/- 2.4 days. Two patients required late reoperation due to severe LAVV regurgitation at 8.5 and 21 months, respectively, after the intracardiac complete repair. The mean follow-up time was 36 +/- 34 months. All patients survived and are in NYHA functional class I or II. The LAVV regurgitation grade at follow-up was significantly lower than soon after operation, 1.1 +/- 0.4 versus 1.7 +/- 0.5 (p = 0.002). At follow-up, the mean gradient across the right ventricular outflow tract was 17 +/- 6 mmHg, significantly lower than preoperatively (p < 0.001). CONCLUSIONS: Complete repair in patients with CAVSD-TOF seems to offer acceptable early and mid-term outcome in terms of mortality, morbidity, and reoperation rate. Palliation prior to complete repair may be reserved in specific cases presenting small pulmonary arteries or severely cyanotic neonates. The RVOT should be managed in the same fashion as for isolated TOF; however, a transatrial transpulmonary approach is our approach of choice. PMID 15016061
