Materiały źródłowe

• #1 Tetralogy of Fallot – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tetralogy-of-fallot/symptoms-causes/syc-20353477

  Tetralogy of Fallot occurs as the baby’s heart grows during pregnancy. Usually, the cause is unknown. […] The exact cause of tetralogy of Fallot is unknown. Some things may increase the risk of a baby being born with tetralogy of Fallot. Risk factors include: […] Tetralogy of Fallot includes four problems with heart structure: Narrowing of the valve between the heart and the lungs, called pulmonary valve stenosis. This condition reduces blood flow from the heart to the lungs. The narrowing may just involve the valve. Or it could happen in more than one place along the pathway between the heart and lungs. Sometimes the valve isn’t formed. Instead, a solid sheet of tissue blocks blood flow from the right side of the heart. This is called pulmonary atresia. […] A hole between the bottom heart chambers, called a ventricular septal defect. A ventricular septal defect changes how blood flows through the heart and lungs. Oxygen-poor blood in the lower right chamber mixes with oxygen-rich blood in the lower left chamber. The heart has to work harder to pump blood through the body. The problem may weaken the heart over time.

• #2 Tetralogy of Fallot

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7807827/

  Tetralogy of Fallot (ToF) is one of the commonest cyanotic congenital heart malformations and is characterised by four cardinal features: ventricular septal defect (VSD); right ventricular (RV) outflow tract obstruction (RVOTO), which is often dynamic; an overriding aorta; and RV hypertrophy (RVH). The degree of RVOTO, the relative pressures in the right and left ventricles, and the proportion of the aorta overriding the VSD determine the presentation and severity of this condition. […] Tetralogy of Fallot is one of the commonest forms of cyanotic congenital heart disease, accounting for 710% of all congenital cardiac malformations with an incidence of one in 3,500 live births. […] The obstruction to pulmonary blood flow at the level of the RV outflow tract (RVOT) is a key feature of ToF.

• #3 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  TOF is the most frequently occurring conotruncal or outflow tract malformation, sharing this classification with other CHD (eg, truncus arteriosus, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle). In conotruncal malformations, suppression of developmental networks such as the NOTCH and WNT pathways during early embryogenesis produces malfunction of downstream regulatory pathways that lead to faulty structural cardiac development. […] Approximately 75% to 80% of TOF cases are nonsyndromic, meaning that the patient has an isolated cardiac defect. Of these, 7% have a loss of function gene mutation, including NOTCH1, FLT4, and TBX1, a transcription factor involved in cardiac development that is affected in those with 22q11.2 microdeletion. Mutations in certain transcription factors involved in cardiac morphogenesis (eg, NKX2.5, GATA-6, GATA-4, HAND1, HAND2, ZFPM2, and NF-ATC) have also been associated with nonsyndromic TOF.

• #4 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  TOF is the most frequently occurring conotruncal or outflow tract malformation, sharing this classification with other CHD (eg, truncus arteriosus, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle). In conotruncal malformations, suppression of developmental networks such as the NOTCH and WNT pathways during early embryogenesis produces malfunction of downstream regulatory pathways that lead to faulty structural cardiac development. […] Approximately 75% to 80% of TOF cases are nonsyndromic, meaning that the patient has an isolated cardiac defect. Of these, 7% have a loss of function gene mutation, including NOTCH1, FLT4, and TBX1, a transcription factor involved in cardiac development that is affected in those with 22q11.2 microdeletion. Mutations in certain transcription factors involved in cardiac morphogenesis (eg, NKX2.5, GATA-6, GATA-4, HAND1, HAND2, ZFPM2, and NF-ATC) have also been associated with nonsyndromic TOF.

• #5 Tetralogy of Fallot: Symptoms, Treatment, Causes & Surgery

  https://www.metropolisindia.com/blog/preventive-healthcare/understanding-tetralogy-of-fallot-tof-symptoms-treatment-causes-

  Tetralogy of Fallot (TOF) is a rare congenital heart defect. TOF develops when a baby’s heart fails to develop normally during pregnancy. […] The exact tetralogy of fallot causes are often unknown, but several factors may be involved. For instance: […] Genetic factors: Mutations in certain genes can increase the risk of tetralogy of fallot. These genes may include NKX2-5, GATA 4, CITED 2 etc. […] Environmental factors: Exposure to certain environmental toxins, such as chemicals or pollutants, during pregnancy could potentially disrupt normal heart development and increase the risk of tetralogy of fallot. Additionally, maternal infections, particularly during the first trimester, have been linked to a higher incidence of congenital heart defects. […] Maternal factors: Poor maternal nutrition, inadequate prenatal care, maternal diabetes, and substance abuse (including alcohol and drugs) during pregnancy can influence foetal development and increase the risk of tetralogy of fallot.

• #6 Tetralogy of Fallot pathophysiology – wikidoc

  https://www.wikidoc.org/index.php/Tetralogy_of_Fallot_pathophysiology

  Tetralogy of fallot is the result of improper positioning of the outlet septum. […] The direct consequence of this misalignment is an overriding aortic orifice and a ventricular septal defect, resulting in an intracardiac right to left shunt of blood. […] Embryologic studies show that tetralogy of Fallot is a result of anterior misalignment of the conal septum, resulting in the clinical combination of a ventricular septal defect (VSD), pulmonary stenosis, and an overriding aorta. […] Right ventricular hypertrophy is secondary to this combination of abnormalities, which causes resistance to blood flow from the right ventricle. […] Previous genetic studies demonstrated that mutations in numerous genes encoding cardiac transcription factors and cell signaling proteins have a role in the development of Tetralogy of Fallot. […] Specifically, heterozygous mutations in NKX2-5, HAND1, TBX5, and GATA4 have been reported in familial forms of disease.

• #7 Tetralogy of Fallot – Cancer Therapy Advisor

  https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/tetralogy-of-fallot/

  It is presumed that some factor or combination of factors (genetic/ environmental) contributes to the anterior deviation of the conal septum that leads to the 4 features of tetralogy of Fallot: 1) conoventricular septal defect, 2) overriding aorta, 3) subpulmonary stenosis, and 4) right ventricular hypertrophy.

• #8 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  The remaining 20% to 25% of patients with TOF have an associated syndrome or a chromosomal abnormality, with the most frequent being trisomy 21 (ie, Down syndrome) and the 22q11.2 deletion syndromes, which range from the more severe DiGeorge syndrome that is accompanied by dysmorphic facies, palatal abnormalities, immune deficiencies, hypocalcemia, and learning disabilities, to the less severe Sprintzen or velocardiofacial syndrome which does not have the immune deficiency and hypocalcemia. […] TOF can also occur in patients with known genetic mutations, including JAG1 and NOTCH2 genes (ie, Alagille syndrome), KMT2D and KDM6A genes (ie, Kabuki syndrome), CHD7 gene (ie, CHARGE syndrome), and the PTPN11, SOS1 or RAF1 genes (ie, Noonan syndrome). TOF may also be present in patients with unknown mutations (eg, VACTERL association and Goldenhar syndrome).

• #9 Tetralogy of Fallot – MD Searchlight

  https://mdsearchlight.com/heart-health/tetralogy-of-fallot/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=30004

  TOF, short for Tetralogy of Fallot, is a common heart defect that occurs when the outflow part of the heart doesn’t form properly. It’s grouped with other heart defects like truncus arteriosus, and double outlet right ventricle. If certain pathways called NOTCH and WNT don’t work properly during the early stages of an embryo’s development, it may cause the heart to develop inappropriately. […] Around 75-80% of TOF cases are nonsyndromic, which means they occur on their own without any other health problems. In these cases, around 7% are due to changes, or mutations, in certain genes, including NOTCH1, FLT4, and TBX1. […] 20-25% of TOF cases accompany other syndromes or chromosomal abnormalities. The most common accompanying conditions are Downs syndrome and 22q11.2 deletion syndromes. […] TOF can also occur in patients with certain known genetic mutations, including those with Alagille syndrome, Kabuki syndrome, CHARGE syndrome, and Noonan syndrome. It can also be present in individuals with certain syndromes where the mutations are unknown, such as VACTERL association and Goldenhar syndrome.

• #10 Tetralogy of Fallot > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/tetralogy-of-fallot

  Tetralogy of Fallot is often caused by genetic or chromosomal abnormalities, but the reasons why they occur are still poorly understood. […] Around 15% of tetralogy of Fallot cases occur in people with the following syndromes: Down syndrome (caused by an extra partial or full copy of chromosome 21), Alagille syndrome (caused by a mutation of the JAG1 gene or, less commonly, the NOTCH2 gene), 22q11.2 deletion syndrome also called DiGeroge syndrome and velocardiofacial syndrome, among several other names (caused by the deletion of a small piece of chromosome 22 at a location of the chromosome labeled q11.2). […] Tetralogy of Fallot is also associated with mutations in certain other genes that are not associated with a syndrome.

• #11 Fallot’s Tetralogy: Symptoms and Treatment | Doctor

  https://patient.info/doctor/fallots-tetralogy

  Fallot’s tetralogy (TOF) is the most common form of cyanotic congenital heart disease in children who survive beyond their first month. […] TOF is a well-recognised feature of the 22q11 microdeletion syndrome and trisomy 21 (Down’s syndrome). […] TOF may be associated with DiGeorge’s syndrome, fetal alcohol syndrome, maternal phenylketonuria and fetal hydantoin syndrome. […] They are part of a range of lesions known as CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcaemia) linked to deletions of a segment of chromosome band 22q11 (DiGeorge’s critical region).

• #12 Tetralogy of Fallot (TOF): Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/heart/congenital-heart-disease/tetralogy-of-fallot-tof

  Tetralogy of Fallot (TOF) is a congenital heart defect that affects infants and young children. It is caused by four heart defects that allow low-oxygen blood to flow from the right side of the heart and throughout the body. […] The exact cause of tetralogy of Fallot is unknown. In some patients (about 15%), tetralogy of Fallot is linked to a chromosomal deletion, where a part of one of the genes is missing. It is signified as 22q11, meaning that the missing portion of the gene is from the 22nd chromosome. A patient can be tested for this chromosomal deletion at any time in life. […] Other maternal medical factors can increase the risk of TOF, including: Smoking during pregnancy, Alcohol use during pregnancy, Older maternal age ( 40), Poor maternal diet during pregnancy, A family history of tetralogy of Fallot (particularly in a family with a known 22q11 deletion).

• #13 Tetralogy of Fallot | NCBDDD | CDC

  https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/tetralogy-of-fallot.html

  Tetralogy of Fallot is a structural heart anomaly characterized clinically by cyanosis, and anatomically by an obstructed right ventricular outflow tract associated with a ventricular septal defect. […] A common genetic condition with tetralogy of Fallot (seen in about 15-20% of cases) is deletion 22q11, a condition in which a small part of chromosome 22 is missing. This deletion leads to some CHDs and many types of birth defects, both visible externally (e.g. cleft palate, spina bifida) and internally (e.g. renal anomalies and many others) (~15-20%). […] Maternal pregestational diabetes is a modifiable risk factor for tetralogy of Fallot and other conotruncal conditions (e.g. truncus arteriosus).

• #14 Tetralogy of Fallot > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/tetralogy-of-fallot

  Tetralogy of Fallot is often caused by genetic or chromosomal abnormalities, but the reasons why they occur are still poorly understood. […] Around 15% of tetralogy of Fallot cases occur in people with the following syndromes: Down syndrome (caused by an extra partial or full copy of chromosome 21), Alagille syndrome (caused by a mutation of the JAG1 gene or, less commonly, the NOTCH2 gene), 22q11.2 deletion syndrome also called DiGeroge syndrome and velocardiofacial syndrome, among several other names (caused by the deletion of a small piece of chromosome 22 at a location of the chromosome labeled q11.2). […] Tetralogy of Fallot is also associated with mutations in certain other genes that are not associated with a syndrome.

• #15 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  The remaining 20% to 25% of patients with TOF have an associated syndrome or a chromosomal abnormality, with the most frequent being trisomy 21 (ie, Down syndrome) and the 22q11.2 deletion syndromes, which range from the more severe DiGeorge syndrome that is accompanied by dysmorphic facies, palatal abnormalities, immune deficiencies, hypocalcemia, and learning disabilities, to the less severe Sprintzen or velocardiofacial syndrome which does not have the immune deficiency and hypocalcemia. […] TOF can also occur in patients with known genetic mutations, including JAG1 and NOTCH2 genes (ie, Alagille syndrome), KMT2D and KDM6A genes (ie, Kabuki syndrome), CHD7 gene (ie, CHARGE syndrome), and the PTPN11, SOS1 or RAF1 genes (ie, Noonan syndrome). TOF may also be present in patients with unknown mutations (eg, VACTERL association and Goldenhar syndrome).

• #16 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  The remaining 20% to 25% of patients with TOF have an associated syndrome or a chromosomal abnormality, with the most frequent being trisomy 21 (ie, Down syndrome) and the 22q11.2 deletion syndromes, which range from the more severe DiGeorge syndrome that is accompanied by dysmorphic facies, palatal abnormalities, immune deficiencies, hypocalcemia, and learning disabilities, to the less severe Sprintzen or velocardiofacial syndrome which does not have the immune deficiency and hypocalcemia. […] TOF can also occur in patients with known genetic mutations, including JAG1 and NOTCH2 genes (ie, Alagille syndrome), KMT2D and KDM6A genes (ie, Kabuki syndrome), CHD7 gene (ie, CHARGE syndrome), and the PTPN11, SOS1 or RAF1 genes (ie, Noonan syndrome). TOF may also be present in patients with unknown mutations (eg, VACTERL association and Goldenhar syndrome).

• #17 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  The remaining 20% to 25% of patients with TOF have an associated syndrome or a chromosomal abnormality, with the most frequent being trisomy 21 (ie, Down syndrome) and the 22q11.2 deletion syndromes, which range from the more severe DiGeorge syndrome that is accompanied by dysmorphic facies, palatal abnormalities, immune deficiencies, hypocalcemia, and learning disabilities, to the less severe Sprintzen or velocardiofacial syndrome which does not have the immune deficiency and hypocalcemia. […] TOF can also occur in patients with known genetic mutations, including JAG1 and NOTCH2 genes (ie, Alagille syndrome), KMT2D and KDM6A genes (ie, Kabuki syndrome), CHD7 gene (ie, CHARGE syndrome), and the PTPN11, SOS1 or RAF1 genes (ie, Noonan syndrome). TOF may also be present in patients with unknown mutations (eg, VACTERL association and Goldenhar syndrome).

• #18 Tetralogy of Fallot – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK513288/

  The remaining 20% to 25% of patients with TOF have an associated syndrome or a chromosomal abnormality, with the most frequent being trisomy 21 (ie, Down syndrome) and the 22q11.2 deletion syndromes, which range from the more severe DiGeorge syndrome that is accompanied by dysmorphic facies, palatal abnormalities, immune deficiencies, hypocalcemia, and learning disabilities, to the less severe Sprintzen or velocardiofacial syndrome which does not have the immune deficiency and hypocalcemia. […] TOF can also occur in patients with known genetic mutations, including JAG1 and NOTCH2 genes (ie, Alagille syndrome), KMT2D and KDM6A genes (ie, Kabuki syndrome), CHD7 gene (ie, CHARGE syndrome), and the PTPN11, SOS1 or RAF1 genes (ie, Noonan syndrome). TOF may also be present in patients with unknown mutations (eg, VACTERL association and Goldenhar syndrome).

• #19 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  The cause of tetralogy of Fallot is typically not known. Maternal risk factors include lifestyle-related habits (alcohol use during pregnancy, smoking, or recreational drugs), medical conditions (diabetes), infections during pregnancy (rubella), and advanced age of mother during pregnancy (35 years and older). […] While the specific causes of TOF have not been fully identified, there are various environmental or genetic factors that have been associated with TOF. So far, around 20% of overall congenital heart defect cases have been due to known causes such as genetic defects and teratogens which are various factors causing embryo development abnormalities or birth defects. However, the other 80% of cases have little known about their cause. […] Genetic factors linked to TOF include various gene mutations or deletions. Gene deletions associated with TOF include chromosome 22 deletion as well as DiGeorge syndrome.

• #20 Tetralogy of Fallot – Causes, Clinical Features, Diagnosis and Treatment

  https://www.medindia.net/health/conditions/tetralogy-of-fallot.htm

  In most cases, the exact cause of Fallots tetralogy remains unclear. The condition occurs when the baby is developing in the mothers womb and may be due to a combination of genetic factors, poor maternal nutrition and viral infections during pregnancy. […] Certain factors that increase the chances of a baby being born with this condition include: […] Viral illness during pregnancy, such as rubella (German measles) […] Alcohol intake during pregnancy […] Mothers who take medications for seizures […] Phenylketonuria in mother […] Poor maternal nutrition during pregnancy […] Maternal age over 40 years […] Family history of Fallots tetralogy in parent […] Occurrence of Di George or Down syndrome.

• #21 Tetralogy of Fallot (TOF) | Causes, symptoms, & treatment | Children’s Wisconsin

  https://childrenswi.org/medical-care/herma-heart/conditions/tetralogy-of-fallot

  Tetralogy of Fallot (TOF or TET) is a complex condition that is a combination of several congenital (present at birth) heart defects. TOF occurs when the fetal heart develops abnormally during the first eight weeks of pregnancy. […] Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families. Maternal abuse of alcohol during pregnancy, leading to fetal alcohol syndrome (FAS), is linked to tetralogy of fallot. Mothers who take medications to control seizures and mothers with phenylketonuria (PKU) are also more likely to have a baby with tetralogy of fallot. Most of the time, this heart defect occurs sporadically (by chance), with no clear reason evident for its development.

• #22 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  Environmental Factors that have been studied to potentially be associated with TOF include: Maternal Alcohol consumption: During embryonic development, many of the body’s processing and filtration systems are not fully developed. Fetal body is unable to process alcohol as well as adults which can lead to improper development, including cardiogenesis. […] Maternal smoking has been associated with various fetal complications such as premature delivery and low birth weight which can lead to TOF. […] Maternal diabetes, diabetes Mellitus, and gestational diabetes are well-known risk factors of fetal CHD, including TOF. […] Rubella is characterized as mild, contagious viral disease with often unnoticed consequences. Infection with rubella during the first trimester has been seen to cause various fetal malformations, including TOF.

• #23 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  Environmental Factors that have been studied to potentially be associated with TOF include: Maternal Alcohol consumption: During embryonic development, many of the body’s processing and filtration systems are not fully developed. Fetal body is unable to process alcohol as well as adults which can lead to improper development, including cardiogenesis. […] Maternal smoking has been associated with various fetal complications such as premature delivery and low birth weight which can lead to TOF. […] Maternal diabetes, diabetes Mellitus, and gestational diabetes are well-known risk factors of fetal CHD, including TOF. […] Rubella is characterized as mild, contagious viral disease with often unnoticed consequences. Infection with rubella during the first trimester has been seen to cause various fetal malformations, including TOF.

• #24 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  Environmental Factors that have been studied to potentially be associated with TOF include: Maternal Alcohol consumption: During embryonic development, many of the body’s processing and filtration systems are not fully developed. Fetal body is unable to process alcohol as well as adults which can lead to improper development, including cardiogenesis. […] Maternal smoking has been associated with various fetal complications such as premature delivery and low birth weight which can lead to TOF. […] Maternal diabetes, diabetes Mellitus, and gestational diabetes are well-known risk factors of fetal CHD, including TOF. […] Rubella is characterized as mild, contagious viral disease with often unnoticed consequences. Infection with rubella during the first trimester has been seen to cause various fetal malformations, including TOF.

• #25 Tetralogy of Fallot | NCBDDD | CDC

  https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/tetralogy-of-fallot.html

  Tetralogy of Fallot is a structural heart anomaly characterized clinically by cyanosis, and anatomically by an obstructed right ventricular outflow tract associated with a ventricular septal defect. […] A common genetic condition with tetralogy of Fallot (seen in about 15-20% of cases) is deletion 22q11, a condition in which a small part of chromosome 22 is missing. This deletion leads to some CHDs and many types of birth defects, both visible externally (e.g. cleft palate, spina bifida) and internally (e.g. renal anomalies and many others) (~15-20%). […] Maternal pregestational diabetes is a modifiable risk factor for tetralogy of Fallot and other conotruncal conditions (e.g. truncus arteriosus).

• #26 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  Environmental Factors that have been studied to potentially be associated with TOF include: Maternal Alcohol consumption: During embryonic development, many of the body’s processing and filtration systems are not fully developed. Fetal body is unable to process alcohol as well as adults which can lead to improper development, including cardiogenesis. […] Maternal smoking has been associated with various fetal complications such as premature delivery and low birth weight which can lead to TOF. […] Maternal diabetes, diabetes Mellitus, and gestational diabetes are well-known risk factors of fetal CHD, including TOF. […] Rubella is characterized as mild, contagious viral disease with often unnoticed consequences. Infection with rubella during the first trimester has been seen to cause various fetal malformations, including TOF.

• #27 Tetralogy of Fallot | Lima Memorial Health System

  https://www.limamemorial.org/health-library/hie%20multimedia-textonly/1/001567

  Tetralogy of Fallot causes low oxygen levels in the blood. This leads to cyanosis (a bluish-purple color to the skin). […] The cause of most congenital heart defects is unknown. Many factors seem to be involved. […] Factors that increase the risk for this condition during pregnancy include: Alcoholism in the mother, Diabetes, Mother who is over 40 years old, Poor nutrition during pregnancy, Rubella or other viral illnesses during pregnancy. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases. […] Women who plan to become pregnant should be immunized against rubella if they are not already immune. Rubella infection in a pregnant woman can cause congenital heart disease.

• #28 Tetralogy of Fallot – Wikipedia

  https://en.wikipedia.org/wiki/Tetralogy_of_Fallot

  Older maternal age, especially after 35 can have various pregnancy risks due to existing co-morbidities such as hypertension, diabetes, hypothyroidism, and consanguinity. These risk factors can affect fetal development and lead to various fetal conditions such as CHD (including TOF), Down Syndrome and Autism.

• #29 Tetralogy of Fallot | Lima Memorial Health System

  https://www.limamemorial.org/health-library/hie%20multimedia-textonly/1/001567

  Tetralogy of Fallot causes low oxygen levels in the blood. This leads to cyanosis (a bluish-purple color to the skin). […] The cause of most congenital heart defects is unknown. Many factors seem to be involved. […] Factors that increase the risk for this condition during pregnancy include: Alcoholism in the mother, Diabetes, Mother who is over 40 years old, Poor nutrition during pregnancy, Rubella or other viral illnesses during pregnancy. […] Some inherited factors may play a role in congenital heart disease. Many family members may be affected. If you are planning to get pregnant, talk to your provider about screening for genetic diseases. […] Women who plan to become pregnant should be immunized against rubella if they are not already immune. Rubella infection in a pregnant woman can cause congenital heart disease.

• #30 Tetralogy of Fallot: Key Causes, Diagnosis, and Treatment

  https://www.medicoverhospitals.in/articles/tetralogy-of-fallot-causes

  Exposure to environmental toxins, such as pesticides and industrial chemicals, during pregnancy, may also play a role in the development of Tetralogy of Fallot. Pregnant women are advised to avoid exposure to such toxins to minimize the risk of congenital anomalies. […] Advanced maternal age is another risk factor for Tetralogy of Fallot. Women over the age of 35 are more likely to have children with congenital heart defects, including ToF. […] Nutritional deficiencies during pregnancy, particularly a lack of essential vitamins and minerals such as folic acid, can impact fetal development. Folic acid is crucial for the proper development of the neural tube and the heart. Pregnant women are often advised to take prenatal vitamins to ensure they receive adequate nutrition. […] The exact cause of Tetralogy of Fallot is often a combination of genetic, chromosomal, environmental, and pregnancy-related factors. While researchers have made significant progress in understanding these causes, there is still much to learn about how these factors interact to result in this complex condition.

• #31 Tetralogy of Fallot – Causes, Clinical Features, Diagnosis and Treatment

  https://www.medindia.net/health/conditions/tetralogy-of-fallot.htm

  In most cases, the exact cause of Fallots tetralogy remains unclear. The condition occurs when the baby is developing in the mothers womb and may be due to a combination of genetic factors, poor maternal nutrition and viral infections during pregnancy. […] Certain factors that increase the chances of a baby being born with this condition include: […] Viral illness during pregnancy, such as rubella (German measles) […] Alcohol intake during pregnancy […] Mothers who take medications for seizures […] Phenylketonuria in mother […] Poor maternal nutrition during pregnancy […] Maternal age over 40 years […] Family history of Fallots tetralogy in parent […] Occurrence of Di George or Down syndrome.

• #32 Tetralogy of Fallot – Children’s Health Issues – MSD Manual Consumer Version

  https://www.msdmanuals.com/home/children-s-health-issues/birth-defects-of-the-heart/tetralogy-of-fallot

  In tetralogy of Fallot, four specific heart defects occur together. […] This condition includes four heart defects that can lead to oxygen-poor blood going directly to the body. […] The four heart defects are A narrowing of the outflow passage from the right side of the heart, A large ventricular septal defect (a hole in the wall that separates the left from the right ventricle), Displacement of the aorta that allows oxygen-poor blood to flow directly from the right ventricle to the aorta (causing a right-to-left shunt), which is also called overriding aorta, A thickening of the wall of the right ventricle. […] In infants with tetralogy of Fallot, the narrowed passage from the right ventricle restricts blood flow to the lungs. […] Infants with severe or complete blockage of blood flow from the right side of the heart may depend on having an open ductus arteriosus for survival.

• #33 Tetralogy of Fallot: Key Causes, Diagnosis, and Treatment

  https://www.medicoverhospitals.in/articles/tetralogy-of-fallot-causes

  Exposure to environmental toxins, such as pesticides and industrial chemicals, during pregnancy, may also play a role in the development of Tetralogy of Fallot. Pregnant women are advised to avoid exposure to such toxins to minimize the risk of congenital anomalies. […] Advanced maternal age is another risk factor for Tetralogy of Fallot. Women over the age of 35 are more likely to have children with congenital heart defects, including ToF. […] Nutritional deficiencies during pregnancy, particularly a lack of essential vitamins and minerals such as folic acid, can impact fetal development. Folic acid is crucial for the proper development of the neural tube and the heart. Pregnant women are often advised to take prenatal vitamins to ensure they receive adequate nutrition. […] The exact cause of Tetralogy of Fallot is often a combination of genetic, chromosomal, environmental, and pregnancy-related factors. While researchers have made significant progress in understanding these causes, there is still much to learn about how these factors interact to result in this complex condition.

• #34

  https://step1.medbullets.com/cardiovascular/108029/tetralogy-of-fallot

  Etiology […] conotruncal abnormality from failure of neural crest cells to migrate […] risk factors […] family history […] maternal exposure to retinoic acid

• #35 Tetralogy of Fallot | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-2

  Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. […] The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22. The risk of recurrence in families is 3%. […] The aetiology is multifactorial. Associated chromosomal anomalies can include trisomies 21, 18, and 13, but recent experience points to the much more frequent association of microdeletions of chromosome 22q11.2. As many as one-eighth of patients will have chromosomal abnormalities, such as trisomy 21, 18, or 13. Up to one-fifth of patients with tetralogy and pulmonary stenosis, and two-fifths of those with tetralogy and pulmonary atresia, will have microdeletions of chromosome 22q11.2. The deletion, manifested by varying degrees of palatal abnormalities, dysmorphic facies, learning disabilities, immune deficiencies, and hypocalcaemia, is frequently referred to as the DiGeorge Syndrome. […] Associations with maternal intake of retinoic acid during the first trimester, poorly controlled diabetes, and untreated phenylketonuria have also been described.

• #36 Tetralogy of Fallot – Cancer Therapy Advisor

  https://www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/tetralogy-of-fallot/

  The etiology of congenital heart disease is an area of active research. It is currently still believed to be a combination of genes and environment. While no single isolated factor has been identified, some associations have been made. […] DiGeorge syndrome (22q11.2 deletion syndrome) is the most common underlying genetic association for tetralogy of Fallot (TOF), seen in 10%-16% per literature review. This syndrome may also be associated with other conotruncal defects, such as truncus arteriosus and double outlet right ventricle. […] Trisomy 21 (Down syndrome) is the next most common genetic abnormality associated with TOF. […] Gene mutations associated with tetralogy of Fallot (TOF) include: 1) 22q11.2; 2) 10p13-14; 3) TBX1 genetic variants; and 4) trisomy 21, among others. […] Environmental toxins have been studied in association with congenital heart disease, with a recent study showing an association between maternal carbon monoxide exposure at 3 to 8 weeks gestation and presence of tetralogy of Fallot in the offspring (odds ratio = 2.04, 95% confidence interval: 1.26, 3.29) when individuals from the highest quartile of exposure were compared with those from the lowest exposure quartile. Further study of the effects of environmental toxins on gene mutation and phenotypic expression is suggested by the authors.

• #37 Tetralogy of Fallot

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7807827/

  The anatomy of ToF allows mixing of blood between the pulmonary and systemic circulations. This mixing usually occurs at the VSD, with a right-to-left shunt adding deoxygenated blood to the systemic circulation, causing cyanosis. […] The degree of RVOTO has both fixed anatomical and variable physiological components. […] Often, RVOTO is caused by sub-pulmonary valve muscle bundles. Infundibular muscle spasm (often during times of distress) causes dynamic RVOTO, adding to any fixed RVOTO, and therefore increasing the right-to-left-shunt fraction. […] A large reduction in systemic vascular resistance (SVR), in the presence of RVOTO, will exacerbate any right-to-left shunt by reducing the LV end-diastolic pressure (LVEDP), thus increasing the right-to-left pressure gradient; an increase in SVR will do the opposite and forms the basis of treatment for spelling episodes. […] In the neonatal period pulmonary vascular resistance (PVR) is higher than in adults and can be fluctuant. Any increase in PVR may further increase the RV afterload adding to any RVOTO, and drive a greater right-to-left shunt.

• #38 Tetralogy of Fallot – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/tetralogy-of-fallot

  Tetralogy of Fallot accounts for 7 to 10% of congenital heart anomalies. […] The ventricular septal defect in tetralogy of Fallot is often described as a malalignment type, since the conal septum is displaced anteriorly. […] Pathophysiology depends on the degree of right ventricular outflow obstruction. […] A mild obstruction may result in a net left-to-right shunt through the VSD; a severe obstruction causes a right-to-left shunt, resulting in low systemic arterial saturation (cyanosis) that is unresponsive to supplemental oxygen. […] Factors include an increase in right ventricular outflow tract obstruction, an increase in pulmonary vascular resistance, and a decrease in systemic resistance. […] Hypercyanotic spells are sudden episodes of profound cyanosis and hypoxia that may be triggered by a fall in oxygen saturation (eg, during crying, defecating), decreased systemic vascular resistance (eg, during playing, kicking legs), or sudden tachycardia or hypovolemia. […] Repair surgically at 2 to 6 months or earlier if symptoms are severe.

• #39 Tetralogy of Fallot – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/tetralogy-of-fallot

  Tetralogy of Fallot accounts for 7 to 10% of congenital heart anomalies. […] The ventricular septal defect in tetralogy of Fallot is often described as a malalignment type, since the conal septum is displaced anteriorly. […] Pathophysiology depends on the degree of right ventricular outflow obstruction. […] A mild obstruction may result in a net left-to-right shunt through the VSD; a severe obstruction causes a right-to-left shunt, resulting in low systemic arterial saturation (cyanosis) that is unresponsive to supplemental oxygen. […] Factors include an increase in right ventricular outflow tract obstruction, an increase in pulmonary vascular resistance, and a decrease in systemic resistance. […] Hypercyanotic spells are sudden episodes of profound cyanosis and hypoxia that may be triggered by a fall in oxygen saturation (eg, during crying, defecating), decreased systemic vascular resistance (eg, during playing, kicking legs), or sudden tachycardia or hypovolemia. […] Repair surgically at 2 to 6 months or earlier if symptoms are severe.

• #40 Tetralogy of Fallot – MedCrave online

  https://medcraveonline.com/JACCOA/tetralogy-of-fallot.html

  Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, represents approximately 7-10% from all congenital heart disease, occurs in 3 to 5 per 10,000 live births. […] The anatomy of TOF causes the blood flowing along the pulmonary and systemic circulation mixed all up together, and the right-to-left shift shunt carries the deoxygenated blood to the systemic circulation. […] The pathophysiology depends on the degree of RVOTO. […] The severity of right-to-left shunt and the degree of hypoxia will be higher along with the more severe degree of RVOTO and overriding aorta. […] Tet spell occurs because of the decrease of systemic vascular resistance (SVR) or infundibular muscle spasm, which increases the blood from right to left. […] Hypercyanotic spell may occur at any stage of life, depends on the severity of RVOTO.

• #41 Tetralogy of Fallot – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/tetralogy-of-fallot

  Tetralogy of Fallot accounts for 7 to 10% of congenital heart anomalies. […] The ventricular septal defect in tetralogy of Fallot is often described as a malalignment type, since the conal septum is displaced anteriorly. […] Pathophysiology depends on the degree of right ventricular outflow obstruction. […] A mild obstruction may result in a net left-to-right shunt through the VSD; a severe obstruction causes a right-to-left shunt, resulting in low systemic arterial saturation (cyanosis) that is unresponsive to supplemental oxygen. […] Factors include an increase in right ventricular outflow tract obstruction, an increase in pulmonary vascular resistance, and a decrease in systemic resistance. […] Hypercyanotic spells are sudden episodes of profound cyanosis and hypoxia that may be triggered by a fall in oxygen saturation (eg, during crying, defecating), decreased systemic vascular resistance (eg, during playing, kicking legs), or sudden tachycardia or hypovolemia. […] Repair surgically at 2 to 6 months or earlier if symptoms are severe.

• #42 Tetralogy of Fallot – MedCrave online

  https://medcraveonline.com/JACCOA/tetralogy-of-fallot.html

  Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, represents approximately 7-10% from all congenital heart disease, occurs in 3 to 5 per 10,000 live births. […] The anatomy of TOF causes the blood flowing along the pulmonary and systemic circulation mixed all up together, and the right-to-left shift shunt carries the deoxygenated blood to the systemic circulation. […] The pathophysiology depends on the degree of RVOTO. […] The severity of right-to-left shunt and the degree of hypoxia will be higher along with the more severe degree of RVOTO and overriding aorta. […] Tet spell occurs because of the decrease of systemic vascular resistance (SVR) or infundibular muscle spasm, which increases the blood from right to left. […] Hypercyanotic spell may occur at any stage of life, depends on the severity of RVOTO.

• #43 Tetralogy of Fallot – WikEM

  https://wikem.org/wiki/Tetralogy_of_Fallot

  Most common cyanotic CHD manifesting in post-infancy period […] Decreased pulmonary vascularity […] Tetralogy of fallot […] Chronic hypoxemia causes a compensatory polycythemia and clubbing of the fingers and toes […] Decreased pulmonary vascularity (due to pulmonic stenosis) […] Tetralogy of fallot.

• #44 Tetralogy of Fallot – Pediatric Heart Specialists

  https://pediatricheartspecialists.com/heart-education/15-congenital-heart-defects/182-tetralogy-of-fallot

  Tetralogy of Fallot is the most common cyanotic congenital heart defect. The overall incidence is about 5 in 10,000 individuals. […] The cause of cyanosis is a lower than normal blood oxygen level. Patients with tetralogy of Fallot are at risk for cyanosis because the narrowing of blood flow to the lungs in combination with a VSD or hole allows blood in many instances to bypass the lungs and go directly up to the body. […] Long-standing cyanosis causes the body to produce more red blood cells. Over time this can clog the circulation and lead to several long-term negative consequences. In addition, the presence of a hole in the middle of the heart can predispose older patients to strokes and infections. Finally, the presence of long-standing pulmonary stenosis can cause thickening and ultimate failure of the right ventricle.

• #45 Tetralogy of Fallot — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tetralogy-of-fallot/

  Tetralogy of Fallot is a congenital heart anomaly that can be associated with underlying chromosomal conditions. […] No genetic cause has been identified for the majority of ToF cases, though some patients may have additional anomalies and/or health issues that are part of a genetic syndrome. […] Children with ToF, however, have an increased chance of having chromosomal conditions see the following examples. […] Isolated ToF has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5%3% have been attributed to first-degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected.

• #46 Tetralogy of Fallot | Pediatric Echocardiography

  https://pedecho.org/library/chd/tetralogy-fallot

  Tetralogy of Fallot (TOF) encompasses a spectrum of cardiac defects that stem from anterocephalad deviation of the outlet septum, along with abnormal septoparietal trabeculations which contribute to right ventricular infundibular narrowing. […] Approximately 25% of patients with TOF have a chromosomal abnormality, most commonly 22q11 deletion (DiGeorge) syndrome followed by trisomy 21. […] As with other conotruncal defects, TOF is associated with abnormal neural crest cell migration; 22q11 deletion is seen in about 20% of patients with TOF with pulmonary stenosis and in more than 40% of patients with TOF with pulmonary atresia. […] Most cases are sporadic. However, children who have parents or siblings with TOF have a significantly higher risk of congenital heart disease.

• #47 Tetralogy of Fallot (TOF) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tetralogy-fallot

  Most cases of TOF have no genetic association. However, there are some cases with a genetic link. […] Parents who already have a child with a congenital heart defect are slightly more likely to have a second child with a heart defect. […] Boston Childrens Hospital maintains a Tetralogy of Fallot Genetics Registry that is exploring possible causative genes.

• #48 Tetralogy of Fallot — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/tetralogy-of-fallot/

  Tetralogy of Fallot is a congenital heart anomaly that can be associated with underlying chromosomal conditions. […] No genetic cause has been identified for the majority of ToF cases, though some patients may have additional anomalies and/or health issues that are part of a genetic syndrome. […] Children with ToF, however, have an increased chance of having chromosomal conditions see the following examples. […] Isolated ToF has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5%3% have been attributed to first-degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected.

• #49 Tetralogy of Fallot – MD Searchlight

  https://mdsearchlight.com/heart-health/tetralogy-of-fallot/?utm_source=pubmedlink&utm_campaign=MDS&utm_content=30004

  TOF, short for Tetralogy of Fallot, is a common heart defect that occurs when the outflow part of the heart doesn’t form properly. It’s grouped with other heart defects like truncus arteriosus, and double outlet right ventricle. If certain pathways called NOTCH and WNT don’t work properly during the early stages of an embryo’s development, it may cause the heart to develop inappropriately. […] Around 75-80% of TOF cases are nonsyndromic, which means they occur on their own without any other health problems. In these cases, around 7% are due to changes, or mutations, in certain genes, including NOTCH1, FLT4, and TBX1. […] 20-25% of TOF cases accompany other syndromes or chromosomal abnormalities. The most common accompanying conditions are Downs syndrome and 22q11.2 deletion syndromes. […] TOF can also occur in patients with certain known genetic mutations, including those with Alagille syndrome, Kabuki syndrome, CHARGE syndrome, and Noonan syndrome. It can also be present in individuals with certain syndromes where the mutations are unknown, such as VACTERL association and Goldenhar syndrome.

• #50 Tetralogy of Fallot: Key Causes, Diagnosis, and Treatment

  https://www.medicoverhospitals.in/articles/tetralogy-of-fallot-causes

  Tetralogy of Fallot is considered a multifactorial condition, meaning it arises from a combination of multiple genetic and environmental factors. This multifactorial nature makes it challenging to pinpoint a single cause for each case of ToF. […] The main cause of Tetralogy of Fallot is a combination of genetic and environmental factors that affect heart development during pregnancy. Specific genetic mutations and chromosomal abnormalities, along with maternal factors, contribute to this condition.

• #51 Tetralogy of Fallot | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/tetralogy-of-fallot

  In most children, the cause of tetralogy of Fallot isn’t known. […] In most cases, the cause isn’t known although in some patients, genetic factors play a role.

• #52 Tetralogy of Fallot – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/tetralogy-of-fallot

  Tetralogy of Fallot and its associated defects occur during pregnancy when the babys heart is developing. […] The causes of these defects are mostly unknown, but may include genetic causes or environmental factors during pregnancy. […] As the causes of Tetralogy of Fallot are mostly unknown, prevention may not be possible.

• #53

  https://www.nhs.uk/conditions/congenital-heart-disease/types/

  Tetralogy of Fallot is a rare combination of several defects. […] The defects making up tetralogy of Fallot are: […] As a result of this combination of defects, oxygenated and non-oxygenated blood mixes, causing the overall amount of oxygen in the blood to be lower than normal.

• #54 Tetralogy of Fallot: Key Causes, Diagnosis, and Treatment

  https://www.medicoverhospitals.in/articles/tetralogy-of-fallot-causes

  Tetralogy of Fallot is considered a multifactorial condition, meaning it arises from a combination of multiple genetic and environmental factors. This multifactorial nature makes it challenging to pinpoint a single cause for each case of ToF. […] The main cause of Tetralogy of Fallot is a combination of genetic and environmental factors that affect heart development during pregnancy. Specific genetic mutations and chromosomal abnormalities, along with maternal factors, contribute to this condition.

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