Cardiovascular System - Tetralogy of Fallot
|Embryology - 24 Oct 2020 Expand to Translate|
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LA88.2 Tetralogy of Fallot
|LA88.2 Tetralogy of Fallot
LA88.20 Tetralogy of Fallot with absent pulmonary valve syndrome | LA88.21 Tetralogy of Fallot with pulmonary atresia | LA88.22 Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery
|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.|
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.
Helen Brooke Taussig (1898 - 1986) on November 9, 1944 Taussig and Blalock first performed a new operation on a Tetralogy of Fallot or "blue baby" and later repeated it successfully on two more patients. The technique was named the Blalock-Taussig operation, and was soon used worldwide. Taussig continued her research on cardiac birth defects and also campaigned for blocking the introduction of thalidomide into the U.S.A.
This cardiovascular abnormality has also been researched as a 2011 Student Project.
Some Recent Findings
|More recent papers|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
Search term: Tetralogy of Fallot
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||Tetralogy of Fallot Echocardiography|
Dr Helen Brooke Taussig (1898-1986) was a paediatric cardiologist, who developed a surgical procedure for Tetralogy of Fallot. 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)
- Dorobantu DM, Mahani AS, Sharabiani MTA, Pandey R, Angelini GD, Parry AJ, Tulloh RMR, Martin RP & Stoica SC. (2018). Primary repair versus surgical and transcatheter palliation in infants with tetralogy of Fallot. Heart , , . PMID: 29720396 DOI.
- 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.
- 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
Diaz-Frias J & Guillaume M. (2018). Tetralogy of Fallot. , , . PMID: 30020660
Kogon BE, Rosenblum JM & Mori M. (2015). Current Readings: Issues Surrounding Pulmonary Valve Replacement in Repaired Tetralogy of Fallot. Semin. Thorac. Cardiovasc. Surg. , 27, 57-64. PMID: 26074110 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
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
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: Tetralogy of Fallot
Search OMIM: Tetralogy of Fallot
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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. (2020, October 24) 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 2020, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G