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>

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

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