Cardiovascular System - Tetralogy of Fallot: Difference between revisions
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==International Classification of Diseases== | ==International Classification of Diseases== | ||
[[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Congenital_malformations_of_the_circulatory_system_.28Q20-Q28.29|Congenital malformations of the circulatory system]] | [[International_Classification_of_Diseases_-_XVII_Congenital_Malformations#Congenital_malformations_of_the_circulatory_system_.28Q20-Q28.29|Congenital malformations of the circulatory system]] | ||
===Q21 Congenital malformations of cardiac septa=== | ===Q21 Congenital malformations of cardiac septa=== | ||
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* Q21.8 Other congenital malformations of cardiac septa Eisenmenger's defect Pentalogy of Fallot Excl.: Eisenmenger's complex (I27.8) syndrome (I27.8) | * 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 | * Q21.9 Congenital malformation of cardiac septum, unspecified Septal (heart) defect NOS | ||
==Abnormality Features== | |||
[[File:Tetralogy of Fallot 01.jpg|thumb|Anterior wall of right ventricle showing the features of Tetralogy of Fallot<ref name=PMID19144126><pubmed>19144126</pubmed>| [http://www.ojrd.com/content/4/1/2 Orphanet J Rare Dis.]</ref>]] | |||
# ventricular septal defect | |||
# obstruction of the right ventricular outflow tract | |||
# override of the ventricular septum by the aortic root | |||
# right ventricular hypertrophy. | |||
==References== | ==References== |
Revision as of 23:55, 22 January 2013
Introduction
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.
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
* Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot[1] "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."
|
Recent References | References
International Classification of Diseases
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
Abnormality Features
- ventricular septal defect
- obstruction of the right ventricular outflow tract
- override of the ventricular septum by the aortic root
- right ventricular hypertrophy.
References
- ↑ <pubmed>23297363</pubmed>
- ↑ <pubmed>23289003</pubmed>
- ↑ <pubmed>19144126</pubmed>| Orphanet J Rare Dis.
Reviews
<pubmed></pubmed> <pubmed></pubmed> <pubmed>22723533</pubmed> <pubmed>22344815</pubmed> <pubmed>21916347</pubmed> <pubmed>19144126</pubmed> <pubmed>15016061</pubmed>
Articles
<pubmed></pubmed> <pubmed></pubmed> <pubmed>23323122</pubmed> <pubmed>21208432</pubmed>
Search Pubmed
Search Pubmed: Tetralogy of Fallot
Search OMIM: Tetralogy of Fallot
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- OMIM Tetralogy of Fallot
- PubMed Health TOF
- NIH What Is Tetralogy of Fallot?
- The Royal Children's Hospital Melbourne Fallots Tetralogy
Glossary Links
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Cite this page: Hill, M.A. (2024, June 15) 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