Cardiovascular System - Tetralogy of Fallot: Difference between revisions

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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.

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.

Historic Embryology - Cardiovascular
1902 Vena cava inferior \| 1905 Brain Blood Vessels \| 1909 Cervical Veins \| 1909 Dorsal aorta and umbilical veins \| 1912 Heart \| 1912 Human Heart \| 1914 Earliest Blood-Vessels \| 1915 Congenital Cardiac Disease \| 1915 Dura Venous Sinuses \| 1916 Blood cell origin \| 1916 Pars Membranacea Septi \| 1919 Lower Limb Arteries \| 1921 Human Brain Vascular \| 1921 Spleen \| 1922 Aortic-Arch System \| 1922 Pig Forelimb Arteries \| 1922 Chicken Pulmonary \| 1923 Head Subcutaneous Plexus \| 1923 Ductus Venosus \| 1925 Venous Development \| 1927 Stage 11 Heart \| 1928 Heart Blood Flow \| 1935 Aorta \| 1935 Venous valves \| 1938 Pars Membranacea Septi \| 1938 Foramen Ovale \| 1939 Atrio-Ventricular Valves \| 1940 Vena cava inferior \| 1940 Early Hematopoiesis \| 1941 Blood Formation \| 1942 Truncus and Conus Partitioning \| Ziegler Heart Models \| 1951 Heart Movie \| 1954 Week 9 Heart \| 1957 Cranial venous system \| 1959 Brain Arterial Anastomoses \| Historic Embryology Papers \| 2012 ECHO Meeting \| 2016 Cardiac Review \| Historic Disclaimer

Some Recent Findings

Etienne Louis Arthur Fallot

* 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."

GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot^[2] "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."

More recent papers
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link. This search now requires a manual link as the original PubMed extension has been disabled. The displayed list of references do not reflect any editorial selection of material based on content or relevance. References also appear on this list based upon the date of the actual page viewing. References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability. 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

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

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.


Autopsy showing features of Tetralogy of Fallot^[3]	Tetralogy of Fallot Echocardiography^[3]

People

Dr Helen Brooke Taussig

| valign=top|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

↑ <pubmed>23297363</pubmed>
↑ <pubmed>23289003</pubmed>
↑ ^3.0 ^3.1 <pubmed>19144126</pubmed>| Orphanet J Rare Dis.
↑ <pubmed>20263273</pubmed>

Reviews

Articles

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, April 18) Embryology Cardiovascular System - Tetralogy of Fallot. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Cardiovascular_System_-_Tetralogy_of_Fallot

What Links Here?

[PMID23297363-1] <pubmed>23297363</pubmed>

[PMID23289003-2] <pubmed>23289003</pubmed>

[PMID19144126-3] 3.0 ^3.1 <pubmed>19144126</pubmed>| Orphanet J Rare Dis.

[PMID20263273-4] <pubmed>20263273</pubmed>

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	"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 [https://www.nlm.nih.gov/changingthefaceofmedicine/physicians/biography_316.html NLM biography])		"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 [https://www.nlm.nih.gov/changingthefaceofmedicine/physicians/biography_316.html NLM biography])

			:'''Search PubMed:''' [http://www.ncbi.nlm.nih.gov/pubmed/?term=TAUSSIG%20HB%5BAuthor%5D&cauthor=true&cauthor_uid=18934387 Taussig HB (Author)]