Tetralogy of Fallot (TOF)
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Tetralogy of Fallot (TOF)
Categorized under Coronary Heart Defect (CHD)
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Heart attacks: What you should know - CNN

Heart attacks: What you should know - CNN | Tetralogy of Fallot (TOF) | Scoop.it
Heart attacks: What you should know CNN Emergency medical providers can perform an electrocardiogram, or EKG, on the way to the hospital and confirm whether you are having a heart attack and treat your heart rhythm abnormalities if needed.
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First Operations; Blalock - Taussig Shunt

First Operations; Blalock - Taussig Shunt | Tetralogy of Fallot (TOF) | Scoop.it

On November 29, 1944, Drs. Blalock and Taussig decided to proceed with the anastomosis, or joining, of the subclavian artery to the pulmonary artery in a cyanotic child.

Dr. Helen Taussig was convinced that the operation would help the patient,and despite the technical problems of operating on a very small and very ill child, Dr. Alfred Blalock's skill was equal to the task. Blalock worked with his surgical team and his invaluable assistant Vivien T. Thomas,who stood behind Blalock and offered a number of helpful suggestions in regard to the technique employed.

The tiny child who had been at such great risk survived the operation and slowly improved. Over the succeeding days she gradually became less blue. By the end of the second postoperative week it was clear she would recover. 

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Cambridge Journals Online - Abstract

Cambridge Journals Online - Abstract | Tetralogy of Fallot (TOF) | Scoop.it

Background Tetralogy of Fallot with pulmonary atresia is a heterogeneous group of defects, characterised by diverse sources of flow of blood to the lungs, which often include multiple systemic-to-pulmonary collateral arteries. Controversy surrounds the optimal method to achieve a biventricular repair with the fewest operations while basing flow to the lungs on the native intrapericardial pulmonary arterial circulation whenever possible. We describe an individualized approach to this group of patients that optimizes these variables.

Methods Over a consecutive 10-year period, we treated 66 patients presenting with tetralogy of Fallot and pulmonary atresia according to the source of the pulmonary arterial flow. Patients were grouped according to whether the flow of blood to the lungs was derived exclusively from the intrapericardial pulmonary arteries, as seen in 29 patients, exclusively from systemic-to-pulmonary collateral arteries, as in 5 patients, or from both the intrapericardial pulmonary and collateral arteries, as in the remaining 32 patients. We divided the latter group into 9 patients deemed simple, and 23 considered complex, according to whether the pulmonary arterial index was greater than or less than 90 millimetres squared per metre squared, and whether the number of collateral arteries was less than or greater than 2, respectively.

Results We achieved complete biventricular repair in 58 patients (88%), with an overall mortality of 3%. Repair was accomplished in a single stage in all patients without systemic-to-pulmonary collateral arteries, but was staged, with unifocalization, in the patients lacking intrapericardial pulmonary arteries. Complete repair without unifocalization was achieved in all patients with the simple variant of the mixed morphology, and in 56% of patients with the complex variant. The average number of procedures per patient to achieve complete repair was 1, 2.2, 3.8, and 2.6 in patients with exclusively native intrapericardial, simple and mixed, complex and mixed and exclusively collateral pulmonary arterial flow, respectively.

Conclusions An individualized approach based on the morphology of the pulmonary arterial supply permits achievement of a high rate of complete intracardiac repairs, basing pulmonary arterial flow on the intrapericardial pulmonary arteries in the great majority of cases, and has a low rate of reoperation and mortality.

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NKX2.5 Mutations in Patients With Tetralogy of Fallot

NKX2.5 Mutations in Patients With Tetralogy of Fallot | Tetralogy of Fallot (TOF) | Scoop.it

Background Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we genotyped 114 TOF patients.

Methods and Results Patients were recruited prospectively (November 1992 through June 1999) and tested for a 22q11 deletion; those with 22q11 deletion or recognized chromosomal alteration were excluded from the present study. Patients were screened for NKX2.5 alterations by conformation-sensitive gel electrophoresis and sequencing of fragments with aberrant mobility. Four heterozygous mutations were identified in 6 unrelated patients with cases of TOF, including 3 with pulmonary atresia and 5 with right aortic arch; none had ECG evidence of PR interval prolongation. Three of 4 mutations (Glu21Gln, Arg216Cys, and Ala219Val) altered highly conserved amino acids, of which 2 mapped in the conserved NK2 domain. The fourth mutation (Arg25Cys) was identified in 3 unrelated probands in the present study and has been previously reported. No homeodomain mutations were identified.

Conclusions NKX2.5 mutations are the first gene defects identified in nonsyndromic TOF patients. NKX2.5 mutation is present in ≥4% of TOF patients. Mutations identified in the present study mapped outside of the homeodomain, were not associated with atrioventricular conduction disturbances, and were not fully penetrant, in contrast to mutations previously reported that impair homeodomain function.

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Whonamedit - Fallot's tetralogy

Fallot's tetralogyAlternative eponymsFallot’s syndromeFallot’s tetradSteno-Fallot tetralogyRelated peopleEtienne-Louis Arthur FallotNiels StensenA congenital condition characterized by stenosis of the pulmonal artery, defect in the interventricular septum, dextroposition of the aorta, and hypertrophy of the right ventricle.
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Tetralogy of Fallot: MedlinePlus Medical Encyclopedia

Tetralogy of Fallot: MedlinePlus Medical Encyclopedia | Tetralogy of Fallot (TOF) | Scoop.it

Tetralogy of Fallot causes low oxygen levels in the blood. This leads to cyanosis (a bluish-purple color to the skin).

The classic form includes four defects of the heart and its major blood vessels:

Ventricular septal defect (hole between the right and left ventricles)Narrowing of the pulmonary outflow tract (the valve and artery that connect the heart with the lungs)Overriding aorta (the artery that carries oxygen-rich blood to the body) that is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricleThickened wall of the right ventricle (right ventricular hypertrophy)

Tetralogy of Fallot is rare, but it is the most common form of cyanotic congenital heart disease. Patients with tetraology of Fallot are more likely to also have other congenital defects.

The cause of most congenital heart defects is unknown. Many factors seem to be involved.

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ScienceDirect.com - The Annals of Thoracic Surgery - Covered Stent Treatment of Right Pulmonary Artery Stenosis and Waterston Shunt

ScienceDirect.com - The Annals of Thoracic Surgery - Covered Stent Treatment of Right Pulmonary Artery Stenosis and Waterston Shunt | Tetralogy of Fallot (TOF) | Scoop.it
Abstract

A 35-year-old man with residual Waterston shunt and concomitant right pulmonary artery stenosis after mutiple surgery for tetralogy of Fallot presented with significant left to right shunt and left heart failure. We describe the percutaneous placement of an endovascular stent graft to occlude the Waterston shunt and relieve the right pulmonary artery stenosis simultaneously. This novel use of a covered stent effectively treated a residual problem without reoperative thoracotomy.

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Tetralogy of Fallot | Radiology Reference Article | Radiopaedia.org

Tetralogy of Fallot | Radiology Reference Article | Radiopaedia.org | Tetralogy of Fallot (TOF) | Scoop.it
A tetralogy of Fallot (TOF) is one of the most common cyanotic congenital heart conditions 1,5 and continues to be a major source of morbidity. EpidemiologyThis anomaly accounts for 10% of all congenital heart disease and has an estimated prevalen...
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Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study -- Lambrechts et al. 42 (6): 519 -- Journal of Medical Genetics

Correspondence to: Professor Peter Carmeliet The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology, KULeuven, Herestraat 49, Leuven, B-3000, Belgium; peter.carmeliet@med.kuleuven.ac.beReceived 13 August 2004Revised 19 October 2004

Congenital heart disease (CHD) presents a huge medical problem, as it affects between two and eight newborn children per 100 live births.1 Risk factors include alcohol and drug consumption as well as genetic defects. However, chromosomal and single gene defects cause only a relatively minor proportion of cases and, thus, most CHD is considered to be multi-factorial in origin, with various genes interacting with each other or with environmental factors to determine disease liability.2 To date, none of the CHD genetic susceptibility factors have been discovered.

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

Tetralogy of Fallot (ToF) is the most common form of complex congenital heart disease, occurring in ∼1 in 3000 live births. Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) inJAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart. Nine of eleven mutation carriers manifested cardiac disease, including classic ToF, ventricular septal defect with aortic dextroposition and isolated peripheral pulmonic stenosis (PPS). All forms of ToF were represented, including variants with pulmonic stenosis, pulmonic atresia and absent pulmonary valve. No individual within this family met diagnostic criteria for any previously described clinical syndrome, including Alagille syndrome (AGS), caused by haploinsufficiency for jagged1. All mutation carriers had characteristic but variable facial features, including long, narrow and upslanting palpebral fissures, prominent nasal bridge, square dental arch and broad, prominent chin. This appearance was distinct from that of unaffected family members and typical AGS patients. The glycine corresponding to position 274 is highly conserved in other epidermal growth factor-like domains of jagged1 and in those of other proteins. Its substitution in other proteins has been associated with mild or atypical variants of disease. These data support either a relative loss-of-function or a gain-of-function pathogenetic mechanism in this family and suggest that JAG1mutations may contribute significantly to common variants of right heart obstructive disease.

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Tetralogy of Fallot

Tetralogy of Fallot | Tetralogy of Fallot (TOF) | Scoop.it
Tetralogy of Fallot. Tetralogy of Fallot (TOF) is one of the most common congenital heart disorders (CHDs).

Tetralogy of Fallot, which is one of the most common congenital heart disorders, comprises right ventricular (RV) outflow tract obstruction (RVOTO) (infundibular stenosis), ventricular septal defect (VSD), aorta dextroposition, and RV hypertrophy. The mortality rate in untreated patients reaches 50% by age 6 years, but in the present era of cardiac surgery, children with simple forms of tetralogy of Fallot enjoy good long-term survival with an excellent quality of life.

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2012 ICD-9-CM Diagnosis Code 745.2 : Tetralogy of fallot

Free, official information about 2012 (and 2013) ICD-9-CM diagnosis code 745.2, including coding notes, detailed descriptions, index cross-references and ICD-10-CM conversion.
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