Cardiovascular System - Tetralogy of Fallot: Difference between revisions
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[[File:Tetralogy of Fallot.jpg|thumb|250px|Tetralogy of Fallot]] | [[File:Tetralogy of Fallot.jpg|thumb|250px|Tetralogy of Fallot]] | ||
{{Tetralogy of Fallot}} named after Etienne-Louis Arthur Fallot (1888) who described it as "''la maladie blue''" and is a common developmental cardiac defect. The syndrome consists of a number of a number of cardiac defects possibly stemming from abnormal neural crest migration. Tetralogy refers to a set of four related symptoms or abnormalities frequently occurring together. | |||
Occurs in about 3 in 10,000 live births and causes 7–10% of all congenital cardiac malformations. | Occurs in about 3 in 10,000 live births and causes 7–10% of all congenital cardiac malformations. | ||
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* '''Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot''' | * '''Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot'''{{#pmid:23297363|PMID23297363}} "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." | ||
* '''GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot''' | |||
* '''GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot'''{{#pmid:23289003|PMID23289003}} "Tetraology of Fallot (TOF) is the most common form of cyanotic congenital heart disease and is a major cause of significant morbidity and mortality. ... 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. ...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." | |||
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| [[File:Tetralogy_of_Fallot_02.jpg|300px]] | | [[File:Tetralogy_of_Fallot_02.jpg|300px]] | ||
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| Autopsy showing features of Tetralogy of Fallot | | Autopsy showing features of Tetralogy of Fallot{{#pmid:19144126|PMID19144126}} | ||
| Tetralogy of Fallot Echocardiography | | Tetralogy of Fallot Echocardiography{{#pmid:19144126|PMID19144126}} | ||
|} | |} | ||
==People== | ==People== | ||
[[File:Helen Brooke Taussig.jpg|thumb|150px|alt=Helen Brooke Taussig|Dr Helen Brooke Taussig]] | [[File:Helen Brooke Taussig.jpg|thumb|150px|alt=Helen Brooke Taussig|Dr Helen Brooke Taussig]] | ||
Dr Helen Brooke Taussig (1898-1986) was a paediatric cardiologist, who developed a surgical procedure for [[Cardiovascular System - Tetralogy of Fallot|Tetralogy of Fallot]]. | Dr Helen Brooke Taussig (1898-1986) was a paediatric cardiologist, who developed a surgical procedure for [[Cardiovascular System - Tetralogy of Fallot|Tetralogy of Fallot]].{{#pmid:20263273|PMID20263273}} She also campaigned for blocking introduction of [[Abnormal Development - Thalidomide|thalidomide]] into the U.S.A. One of her students had drawn her attention to the data on congenital malformations occurring in Germany and England. | ||
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===Reviews=== | ===Reviews=== | ||
{{#pmid:22723533}} | |||
{{#pmid:22344815}} | |||
{{#pmid:21916347}} | |||
{{#pmid:20091166}} | |||
{{#pmid:19144126}} | |||
{{#pmid:15016061}} | |||
===Articles=== | ===Articles=== | ||
{{#pmid:26471818}} | |||
{{#pmid:23323122}} | |||
{{#pmid:21208432}} | |||
===Search Pubmed=== | ===Search Pubmed=== |
Revision as of 15:53, 8 May 2018
Embryology - 5 May 2024 Expand to Translate |
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LB21.3 Tetralogy of Fallot
ICD-11 Structural developmental anomalies of the circulatory system (draft) |
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ICD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
20 Developmental Anomalies - Structural Developmental Anomalies Beta coding and tree structure for "structural developmental anomalies" within this section are shown in the table below. |
Structural developmental anomalies of the circulatory system |
|
CD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
|
Introduction
Tetralogy of Fallot named after Etienne-Louis Arthur Fallot (1888) who described it as "la maladie blue" and is a common developmental cardiac defect. The syndrome consists of a number of a number of cardiac defects possibly stemming from abnormal neural crest migration. Tetralogy refers to a set of four related symptoms or abnormalities frequently occurring together.
Occurs in about 3 in 10,000 live births and causes 7–10% of all congenital cardiac malformations.
- ventricular septal defect
- obstruction of the right ventricular outflow tract
- override of the ventricular septum by the aortic root
- right ventricular hypertrophy.
ICD-10 Q21.3 Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.
This cardiovascular abnormality has also been researched as a 2011 Student Project.
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Tetralogy of Fallot <pubmed limit=5>Tetralogy of Fallot</pubmed> |
International Classification of Diseases
ICD11
- LB21 Congenital anomaly of ventricles and ventricular septum
- LB21.3 Tetralogy of Fallot - defined as a group of malformations with biventricular atrioventricular alignments or connections characterized by anterosuperior deviation of the conal or outlet septum or its fibrous remnant, narrowing or atresia of the pulmonary outflow, a ventricular septal defect of the malalignment type, and biventricular origin of the aorta. Tetralogy of Fallot will always have a ventricular septal defect, narrowing or atresia of the pulmonary outflow, aortic override, and most often right ventricular hypertrophy.
ICD-11 Structural developmental anomalies of the circulatory system (draft) |
---|
ICD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
20 Developmental Anomalies - Structural Developmental Anomalies Beta coding and tree structure for "structural developmental anomalies" within this section are shown in the table below. |
Structural developmental anomalies of the circulatory system |
|
CD-11 Beta Draft - NOT FINAL, updated on a daily basis, It is not approved by WHO, NOT TO BE USED for CODING except for agreed FIELD TRIALS.
|
ICD10
ICD10 Congenital malformations of the circulatory system
Q21 Congenital malformations of cardiac septa
Excl.: acquired cardiac septal defect (I51.0)
- Q21.0 Ventricular septal defect
- Q21.1 Atrial septal defect Coronary sinus defect Patent or persistent: foramen ovale ostium secundum defect (type II) Sinus venosus defect
- Q21.2 Atrioventricular septal defect Common atrioventricular canal Endocardial cushion defect Ostium primum atrial septal defect (type I)
- Q21.3 Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.
- Q21.4 Aortopulmonary septal defect Aortic septal defect Aortopulmonary window
- Q21.8 Other congenital malformations of cardiac septa Eisenmenger's defect Pentalogy of Fallot Excl.: Eisenmenger's complex (I27.8) syndrome (I27.8)
- Q21.9 Congenital malformation of cardiac septum, unspecified Septal (heart) defect NOS
Anatomy
The aortic root is overriding the crest of the muscular ventricular septum, in presence of a large interventricular communication. The muscular outlet septum is deviated antero-cranially, and is located exclusively within the right ventricle. Together with the hypertrophied trabeculations on the parietal wall of the right ventricle, it produces muscular subpulmonary obstruction. The walls of the right ventricle are hypertrophied, producing the fourth feature of the tetralogy.
Autopsy showing features of Tetralogy of Fallot[3] | Tetralogy of Fallot Echocardiography[3] |
People
Dr Helen Brooke Taussig (1898-1986) was a paediatric cardiologist, who developed a surgical procedure for Tetralogy of Fallot.[4] She also campaigned for blocking introduction of thalidomide into the U.S.A. One of her students had drawn her attention to the data on congenital malformations occurring in Germany and England.
- "Taussig used fluoroscopy, a new x-ray technique, to establish that babies suffering from anoxemia had a leaking septum (the wall that separates the chambers of the heart), and an underdeveloped artery leading from the heart to the lungs. In 1941 Taussig suggested an idea for an operation that might help children with "blue baby" to her colleagues at Hopkins—surgeon Alfred Blalock and surgical technician Vivien Thomas. On November 9, 1944 Taussig and Blalock first performed this new operation on a child with anoxemia, (after Thomas had experimented extensively with the procedure). They later repeated it successfully on two more patients. They published their results in the Journal of the American Medical Association. The technique was named the Blalock-Taussig operation, and was soon used worldwide. Taussig continued her research on cardiac birth defects and published her important work Congenital Malformations of the Heart, in 1947." (excerpt from NLM biography)
- Search PubMed: Taussig HB (Author)
References
- ↑ Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, 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. (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum. Mol. Genet. , 22, 1473-81. PMID: 23297363 DOI.
- ↑ Wei D, Bao H, Liu XY, Zhou N, Wang Q, Li RG, Xu YJ & Yang YQ. (2013). GATA5 loss-of-function mutations underlie tetralogy of fallot. Int J Med Sci , 10, 34-42. PMID: 23289003 DOI.
- ↑ 3.0 3.1 Bailliard F & Anderson RH. (2009). Tetralogy of Fallot. Orphanet J Rare Dis , 4, 2. PMID: 19144126 DOI.
- ↑ TAUSSIG H & BLALOCK A. (1947). Surgery of congenital heart disease. Br Med J , 2, 462. PMID: 20263273
Reviews
Kilner PJ. (2011). Imaging congenital heart disease in adults. Br J Radiol , 84 Spec No 3, S258-68. PMID: 22723533 DOI.
Motta P & Miller-Hance WC. (2012). Transesophageal echocardiography in tetralogy of Fallot. Semin Cardiothorac Vasc Anesth , 16, 70-87. PMID: 22344815 DOI.
Caplan R & Allen PJ. (2011). Physical activity recommendations for adolescents with repaired tetralogy of fallot: review of the literature and guidelines for practitioners. Pediatr Nurs , 37, 191-9. PMID: 21916347
Starr JP. (2010). Tetralogy of fallot: yesterday and today. World J Surg , 34, 658-68. PMID: 20091166 DOI.
Bailliard F & Anderson RH. (2009). Tetralogy of Fallot. Orphanet J Rare Dis , 4, 2. PMID: 19144126 DOI.
Prifti E, Bonacchi M, Bernabei M, Leacche M, Bartolozzi F, Murzi B, Battaglia F, Nadia NS & Vanini V. (2004). Repair of complete atrioventricular septal defect with tetralogy of fallot: our experience and literature review. J Card Surg , 19, 175-83. PMID: 15016061
Articles
Downing TE & Kim YY. (2015). Tetralogy of Fallot: General Principles of Management. Cardiol Clin , 33, 531-41, vii-viii. PMID: 26471818 DOI.
Cha S, Kim GB, Kwon BS, Bae EJ, Noh CI, Lim HG, Kim WH, Lee JR, Kim YJ & Choi JY. (2012). Recent trends in indications of fetal echocardiography and postnatal outcomes in fetuses diagnosed as congenital heart disease. Korean Circ J , 42, 839-44. PMID: 23323122 DOI.
Bittel DC, Butler MG, Kibiryeva N, Marshall JA, Chen J, Lofland GK & O'Brien JE. (2011). Gene expression in cardiac tissues from infants with idiopathic conotruncal defects. BMC Med Genomics , 4, 1. PMID: 21208432 DOI.
Search Pubmed
Search Pubmed: Tetralogy of Fallot
Search OMIM: Tetralogy of Fallot
External Links
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- OMIM Tetralogy of Fallot
- PubMed Health TOF
- NIH What Is Tetralogy of Fallot?
- The Royal Children's Hospital Melbourne Fallots Tetralogy
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Cite this page: Hill, M.A. (2024, May 5) Embryology Cardiovascular System - Tetralogy of Fallot. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Cardiovascular_System_-_Tetralogy_of_Fallot
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G