Cardiovascular System - Tetralogy of Fallot: Difference between revisions

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{{Header}}
=LA88.2 Tetralogy of Fallot=
{|
|-bgcolor="FFCC00"
! {{ICD-11}}
|-bgcolor="FEF9E7"
| {{ICD11weblink}}90973426 '''LA88.2''' Tetralogy of Fallot]
:''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.''
{{ICD11weblink}}1640350515 LA88.20 Tetralogy of Fallot with absent pulmonary valve syndrome] | {{ICD11weblink}}1645917296 LA88.21 Tetralogy of Fallot with pulmonary atresia] | {{ICD11weblink}}1408174111 LA88.22 Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery]
|}
{{ICD-11-Circulatory system structural anomalies table}}
==Introduction==
==Introduction==


[[File:Tetralogy of Fallot.jpg|thumb|250px|Tetralogy of Fallot]]
[[File:Tetralogy of Fallot.jpg|thumb|250px|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 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.


[[Cardiovascular_System_-_Abnormalities#International_Classification_of_Diseases|'''ICD-10''']] Q21.3 Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.  
[[Cardiovascular_System_-_Abnormalities#International_Classification_of_Diseases|'''ICD-10''']] Q21.3 Tetralogy of Fallot Ventricular septal defect with pulmonary stenosis or atresia, dextroposition of aorta and hypertrophy of right ventricle.  
{{Tetralogy of Fallot Vignette}}


This cardiovascular abnormality has also been researched as a [[2011_Group_Project_6|2011 Student Project]].
This cardiovascular abnormality has also been researched as a [[2011_Group_Project_6|2011 Student Project]].


{{Heart Abnormal}}
{{Heart Abnormal}}


{{Heart Links}}
{{Heart Links}}


==Some Recent Findings==
==Some Recent Findings==
[[File:Dr_Etienne_Louis_Arthur_Fallot.jpg|thumb|}Etienne Louis Arthur Fallot]]
[[File:Dr_Etienne_Louis_Arthur_Fallot.jpg|thumb|Etienne Louis Arthur Fallot]]
{|
{|
|-bgcolor="F5FAFF"  
|-bgcolor="F5FAFF"  
| * '''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."
|  
* '''GATA5 loss-of-Function Mutations Underlie Tetralogy of Fallot'''<ref name=PMID23289003><pubmed>23289003</pubmed></ref> "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."
* '''Primary repair versus surgical and transcatheter palliation in infants with tetralogy of Fallot'''{{#pmid:29720396|PMID29720396}} "Treatment of infants with tetralogy of Fallot (ToF) has evolved in the last two decades with increasing use of primary surgical repair (PrR) and transcatheter right ventricular outflow tract palliation (RVOTd), and fewer systemic-to-pulmonary shunts (SPS). We aim to report contemporary results using these treatment options in a comparative study. METHODS: This a retrospective study using data from the UK National Congenital Heart Disease Audit. All infants (n=1662, median age 181 days) with ToF and no other complex defects undergoing repair or palliation between 2000 and 2013 were considered. Matching algorithms were used to minimise confounding due to lower age and weight in those palliated. RESULTS: Patients underwent PrR (n=1244), SPS (n=311) or RVOTd (n=107). Mortality at 12 years was higher when repair or palliation was performed before the age of 60 days rather than after, most significantly for primary repair (18.7% vs 2.2%, P<0.001), less so for RVOTd (10.8% vs 0%, P=0.06) or SPS (12.4% vs 8.3%, P=0.2). In the matched groups of patients, RVOTd was associated with more right ventricular outflow tract (RVOT) reinterventions (HR=2.3, P=0.05 vs PrR, HR=7.2, P=0.001 vs SPS) and fewer pulmonary valve replacements (PVR) (HR=0.3 vs PrR, P=0.05) at 12 years, with lower mortality after complete repair (HR=0.2 versus PrR, P=0.09).  We found that RVOTd was associated with more RVOT reinterventions, fewer PVR and fewer deaths when compared with PrR in comparable, young infants, especially so in those under 60 days at the time of the first procedure."
 
* '''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'''{{#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."
|}
|}
{| class="wikitable mw-collapsible mw-collapsed"
! More recent papers &nbsp;
|-
| [[File:Mark_Hill.jpg|90px|left]] {{Most_Recent_Refs}}


Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Tetralogy+of+Fallot ''Tetralogy of Fallot'']


[[Talk:Cardiovascular System - Tetralogy of Fallot|Recent References]] | [[#References|References]]
|}
 
==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.
 
[[File:Anderson2016-fig49.jpg|600px]]
 
{|
| [[File:Tetralogy of Fallot 01.jpg|300px]]
| [[File:Tetralogy_of_Fallot_02.jpg|300px]]
|-
| Autopsy showing features of Tetralogy of Fallot{{#pmid:19144126|PMID19144126}}
| Tetralogy of Fallot Echocardiography{{#pmid:19144126|PMID19144126}}
|}
 
==People==
[[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]].{{#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.
 
 
:"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)]


==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==
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===Reviews===
===Reviews===
<pubmed></pubmed>
{{#pmid:30020660}}
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<pubmed>22723533</pubmed>
{{#pmid:26074110}}
<pubmed>22344815</pubmed>
 
<pubmed>21916347</pubmed>
{{#pmid:22723533}}
<pubmed>19144126</pubmed>
 
<pubmed>15016061</pubmed>
{{#pmid:22344815}}
 
{{#pmid:21916347}}
 
{{#pmid:20091166}}
 
{{#pmid:19683809}}
 
{{#pmid:19144126}}
 
{{#pmid:15016061}}


===Articles===
===Articles===
<pubmed></pubmed>
{{#pmid:30172549}}
<pubmed></pubmed>
 
<pubmed>23323122</pubmed>
{{#pmid:26471818}}
<pubmed>21208432</pubmed>
 
{{#pmid:23323122}}


{{#pmid:21208432}}


===Search Pubmed===
===Search Pubmed===
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* '''NIH''' [http://www.nhlbi.nih.gov/health/health-topics/topics/tof What Is Tetralogy of Fallot?]
* '''NIH''' [http://www.nhlbi.nih.gov/health/health-topics/topics/tof What Is Tetralogy of Fallot?]
* The Royal Children's Hospital Melbourne [http://www.rch.org.au/cardiology/heart_defects/Fallots_Tetralogy Fallots Tetralogy]
* The Royal Children's Hospital Melbourne [http://www.rch.org.au/cardiology/heart_defects/Fallots_Tetralogy Fallots Tetralogy]


{{Glossary}}
{{Glossary}}
{{Footer}}
{{Footer}}


[[Category:Cardiovascular]] [[Category:Heart]] [[Category:Abnormal Development]]
[[Category:Cardiovascular]] [[Category:Heart]] [[Category:Abnormal Development]]
[[Category:Tetralogy of Fallot]]

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LA88.2 Tetralogy of Fallot

 ICD-11
LA88.2 Tetralogy of Fallot
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.

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  
  • Structural developmental anomaly of heart and great vessels
    • LB00 Congenital heart or great vessel related acquired abnormality
    • LB01 Congenital anomaly of atrioventricular or ventriculo-arterial connections
      • LB01.1 Transposition of the great arteries
      • LB01.2 Double outlet right ventricle
      • LB01.3 Double outlet left ventricle
      • LB01.4 Common arterial trunk
      • LB01.Y Other specified congenital anomaly of atrioventricular or ventriculo-arterial connections
      • LB01.Z Congenital anomaly of atrioventricular or ventriculo-arterial connections, unspecified
    • LB02 Congenital anomaly of the mediastinal veins Congenital anomaly of atria or atrial septum
    • LB20 Congenital anomaly of atrioventricular valves or septum
    • LB21 Congenital anomaly of ventricles and ventricular septum
      • LB21.1 Congenital right ventricular outflow tract obstruction  
      • LB21.2 Double-chambered right ventricle  
      • LB21.3 Tetralogy of Fallot
      • LB21.4 Congenital left ventricular outflow tract obstruction  
      • LB21.5 Congenital ventricular septal defects 
      • LB21.Y Other specified congenital anomaly of ventricles and ventricular septum
      • LB21.Z Congenital anomaly of ventricles and ventricular septum, unspecified  
    • LB22 Functionally univentricular heart
    • LB23 Congenital anomaly of ventriculo-arterial valves and adjacent regions
    • LB24 Congenital anomaly of great arteries including arterial duct
      • LB.1 Congenital aorto-pulmonary window
      • LB.2 Congenital anomaly of pulmonary arterial tree
      • LB.3 Congenital anomaly of aorta and its branches
      • LB.4 Tracheo-oesophageal compressive syndrome
      • LB.5 Patent arterial duct
      • LB.Y Other specified congenital anomaly of great arteries including arterial duct
      • LB.Z Congenital anomaly of great arteries including arterial duct, unspecified
    • LB25 Anomalous position-orientation of heart
    • LB26 Total mirror imagery
    • LB27 Left isomerism
    • LB28 Congenital anomaly of coronary arteries
    • LB29 Structural developmental anomalies of the pericardium
    • LB2Y Other specified structural developmental anomaly of heart and great vessels
    • LB2Z Structural developmental anomaly of heart and great vessels, unspecified
  • LB30 Structural developmental anomalies of the peripheral vascular system
    • LB30.1 Capillary malformations
    • LB30.2 Lymphatic malformations
      • LB30.21 Macrocystic lymphatic malformation
      • LB30.22 Microcystic lymphatic malformation
      • LB30.23 Cystic hygroma in fetus
      • BD23.1 Primary lymphoedema
          • EK91 Yellow nail syndrome
          • LC5F.26 Noonan syndrome
      • LB30.2Y Other specified lymphatic malformations
      • LB30.2Z Lymphatic malformations, unspecified
    • LB30.3 Peripheral venous malformations
    • LB30.4 Peripheral arteriovenous malformations
    • LB30.5 Peripheral arterial malformations
    • LB30.6 Pulmonary arteriovenous fistula
    • LB30.Y Other specified structural developmental anomalies of the peripheral vascular system
    • LB30.Z Structural developmental anomalies of the peripheral vascular system, unspecified
  • LB3Y Other specified structural developmental anomalies of the circulatory system
  • LB3Z Structural developmental anomalies of the circulatory system, unspecified
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.


See also International Classification of Diseases | Abnormalities

Introduction

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.

  1. ventricular septal defect
  2. obstruction of the right ventricular outflow tract
  3. override of the ventricular septum by the aortic root
  4. 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.

Historic Embryology
Helen Brooke Taussig.jpg
Tetralogy of Fallot

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.


Heart Abnormal: Tutorial Abnormalities | atrial septal defects | double outlet right ventricle | hypoplastic left heart | patent ductus arteriosus‎ | transposition of the great vessels | Tetralogy of Fallot | ventricular septal defects | coarctation of the aorta | Category ASD | Category PDA | Category ToF | Category VSD | ICD10 - Cardiovascular | ICD11


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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
  • Primary repair versus surgical and transcatheter palliation in infants with tetralogy of Fallot[1] "Treatment of infants with tetralogy of Fallot (ToF) has evolved in the last two decades with increasing use of primary surgical repair (PrR) and transcatheter right ventricular outflow tract palliation (RVOTd), and fewer systemic-to-pulmonary shunts (SPS). We aim to report contemporary results using these treatment options in a comparative study. METHODS: This a retrospective study using data from the UK National Congenital Heart Disease Audit. All infants (n=1662, median age 181 days) with ToF and no other complex defects undergoing repair or palliation between 2000 and 2013 were considered. Matching algorithms were used to minimise confounding due to lower age and weight in those palliated. RESULTS: Patients underwent PrR (n=1244), SPS (n=311) or RVOTd (n=107). Mortality at 12 years was higher when repair or palliation was performed before the age of 60 days rather than after, most significantly for primary repair (18.7% vs 2.2%, P<0.001), less so for RVOTd (10.8% vs 0%, P=0.06) or SPS (12.4% vs 8.3%, P=0.2). In the matched groups of patients, RVOTd was associated with more right ventricular outflow tract (RVOT) reinterventions (HR=2.3, P=0.05 vs PrR, HR=7.2, P=0.001 vs SPS) and fewer pulmonary valve replacements (PVR) (HR=0.3 vs PrR, P=0.05) at 12 years, with lower mortality after complete repair (HR=0.2 versus PrR, P=0.09). We found that RVOTd was associated with more RVOT reinterventions, fewer PVR and fewer deaths when compared with PrR in comparable, young infants, especially so in those under 60 days at the time of the first procedure."
  • Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot[2] "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[3] "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  
Mark Hill.jpg
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Search term: Tetralogy of Fallot

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.

Anderson2016-fig49.jpg

Tetralogy of Fallot 01.jpg Tetralogy of Fallot 02.jpg
Autopsy showing features of Tetralogy of Fallot[4] Tetralogy of Fallot Echocardiography[4]

People

Helen Brooke Taussig
Dr Helen Brooke Taussig

Dr Helen Brooke Taussig (1898-1986) was a paediatric cardiologist, who developed a surgical procedure for Tetralogy of Fallot.[5] 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

  1. 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.
  2. 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.
  3. 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.
  4. 4.0 4.1 Bailliard F & Anderson RH. (2009). Tetralogy of Fallot. Orphanet J Rare Dis , 4, 2. PMID: 19144126 DOI.
  5. TAUSSIG H & BLALOCK A. (1947). Surgery of congenital heart disease. Br Med J , 2, 462. PMID: 20263273

Reviews

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.

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.

Apitz C, Webb GD & Redington AN. (2009). Tetralogy of Fallot. Lancet , 374, 1462-71. PMID: 19683809 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

Englert JAR, Gupta T, Joury AU & Shah SB. (2018). Tetralogy of Fallot: Case-Based Update for the Treatment of Adult Congenital Patients. Curr Probl Cardiol , , . PMID: 30172549 DOI.

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.

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Cite this page: Hill, M.A. (2024, March 29) Embryology Cardiovascular System - Tetralogy of Fallot. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Cardiovascular_System_-_Tetralogy_of_Fallot

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