Cardiovascular System - Tetralogy of Fallot: Difference between revisions
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| * '''Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot'''<ref name=PMID23297363><pubmed>23297363</pubmed></ref> "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." | | * '''Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot'''<ref name=PMID23297363><pubmed>23297363</pubmed></ref> "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." | ||
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==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]] | |||
===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 | |||
==References== | ==References== |
Revision as of 16:49, 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.
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." |
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
References
- ↑ <pubmed>23297363</pubmed>
Reviews
<pubmed></pubmed> <pubmed></pubmed> <pubmed>22723533</pubmed> <pubmed>22344815</pubmed> <pubmed>21916347</pubmed> <pubmed>15016061</pubmed>
Articles
<pubmed></pubmed> <pubmed>23323122</pubmed> <pubmed>21208432</pubmed>
Search Pubmed
Search Pubmed: Tetralogy of Fallot
Search OMIM: Tetralogy of Fallot
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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