Materiały źródłowe

• #1 Truncus arteriosus | Causes, symptoms, diagnosis | Children’s Wisconsin

  https://childrenswi.org/medical-care/herma-heart/conditions/truncus-arteriosus

  Truncus arteriosus is a rare and complex congenital heart defect (present at birth) that develops during the first eight weeks of pregnancy. Truncus arteriosus occurs when the two main blood vessels, the aorta and the pulmonary artery, stay connected and fail to separate completely as the fetus develops. […] 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. Other times this heart defect occurs sporadically (by chance), with no clear reason for its development. […] Truncus arteriosus occurs in less than one out of every 10,000 live births. It makes up 1 percent of all cases of congenital heart disease.

• #2 Truncus Arteriosus – Children’s Hospital of Orange County

  https://choc.org/heart/congenital-heart-defects/truncus-arteriosus/

  Truncus arteriosus is a congenital (present at birth) defect that occurs due to abnormal development of the fetal heart during the first eight weeks of pregnancy. The heart begins as a hollow tube, and the chambers, valves and great arteries develop early in pregnancy. The aorta and pulmonary artery start as a single blood vessel, which eventually divides and becomes two separate arteries. […] Truncus arteriosus occurs when the single great vessel fails to separate completely, leaving a connection between the aorta and pulmonary artery. Another congenital heart defect that nearly always occurs with truncus arteriosus is a ventricular septal defect, which is a hole in the dividing wall (septum) between the two lower chambers of the heart known as the right and left ventricles. […] Some congenital heart defects may have a genetic link causing heart problems to occur more often in certain families. Other times this heart defect occurs by chance, with no clear reason for its development.

• #3 Truncus Arteriosus – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534774/

  Truncus arteriosus arises if embryological processes fail to create a conotruncal septal wall, and the single truncal root does not divide into the aortic and pulmonic outflow tracts. This mechanism also inhibits the formation of separate aortic and pulmonary valves, resulting in a single truncal valve. […] While the developmental underpinnings are poorly understood, truncus arteriosus is frequently associated with 22q11.2 microdeletion (Di George) syndrome in 12% to 35% of patients. Abnormalities in the secondary heart field and cardiac neural crest cells are likewise strongly implicated.

• #4 Persistent Truncus Arteriosus – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/persistent-truncus-arteriosus

  Persistent truncus arteriosus occurs when, during fetal development, the primitive truncus does not divide into the pulmonary artery and aorta, resulting in a single, large, arterial trunk that overlies a large, malalignment type ventricular septal defect. […] Persistent truncus arteriosus accounts for about 1% of congenital heart anomalies and 4% of critical congenital heart defects. About 35% of patients have 22q11 deletion syndrome, which includes DiGeorge syndrome and velocardiofacial syndromes. […] The primitive truncus does not divide into the pulmonary artery and aorta, resulting in a single large arterial trunk that overlies a large ventricular septal defect. […] Physiologic consequences of truncus arteriosus include mild cyanosis, significant pulmonary overcirculation, and heart failure.

• #5 Truncus arteriosus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/truncus-arteriosus?lang=us

  Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly. […] It accounts for up to 2% of congenital cardiac anomalies and is almost always associated with a ventricular septal defect (VSD) to allow circulatory flow circuit completion. […] There is a lack of normal separation of the embryological truncus arteriosus into a separate aorta and pulmonary trunk. This results in a single arterial vessel that originates from the heart that supplies the systemic, pulmonary, and coronary circulations.

• #6 Truncus Arteriosus: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14785-truncus-arteriosus

  Truncus arteriosus causes oxygen-poor and oxygen-rich blood to mix before leaving your baby’s heart. […] Scientists dont fully understand what causes truncus arteriosus. In children born with certain genetic syndromes, like DiGeorge syndrome, the gene variations that cause the disorder are responsible for this heart defect. More generally, we know that truncus arteriosus happens when the fetal heart doesnt develop correctly during pregnancy. […] But for unknown reasons, the truncus might not form in this way. Instead, the truncus remains (persists) as a single common artery. […] Your baby may have a higher risk of developing truncus arteriosus or other congenital heart defects if youre pregnant and: Have diabetes, Have certain viral infections, like rubella, Use alcohol or recreational drugs, Are exposed to lead or other harmful substances (teratogens).

• #7 Truncus Arteriosus (TA) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=truncus-arteriosus-ta-90-P01826

  Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] Truncus arteriosus causes oxygen-poor (blue) blood and oxygen-rich blood to mix and to be pumped to the body. This causes blue skin, lips, or nails (cyanosis). […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life.

• #8 Truncus Arteriosus – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534774/

  Truncus arteriosus arises if embryological processes fail to create a conotruncal septal wall, and the single truncal root does not divide into the aortic and pulmonic outflow tracts. This mechanism also inhibits the formation of separate aortic and pulmonary valves, resulting in a single truncal valve. […] While the developmental underpinnings are poorly understood, truncus arteriosus is frequently associated with 22q11.2 microdeletion (Di George) syndrome in 12% to 35% of patients. Abnormalities in the secondary heart field and cardiac neural crest cells are likewise strongly implicated.

• #9 Truncus Arteriosus: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14785-truncus-arteriosus

  Truncus arteriosus causes oxygen-poor and oxygen-rich blood to mix before leaving your baby’s heart. […] Scientists dont fully understand what causes truncus arteriosus. In children born with certain genetic syndromes, like DiGeorge syndrome, the gene variations that cause the disorder are responsible for this heart defect. More generally, we know that truncus arteriosus happens when the fetal heart doesnt develop correctly during pregnancy. […] But for unknown reasons, the truncus might not form in this way. Instead, the truncus remains (persists) as a single common artery. […] Your baby may have a higher risk of developing truncus arteriosus or other congenital heart defects if youre pregnant and: Have diabetes, Have certain viral infections, like rubella, Use alcohol or recreational drugs, Are exposed to lead or other harmful substances (teratogens).

• #10 About Truncus Arteriosus | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/truncus-arteriosus.html

  Truncus arteriosus happens when the blood vessel from the heart in the developing baby fails to separate completely during development. This leaves a connection between the aorta and pulmonary artery. […] The causes of truncus arteriosus among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for truncus arteriosus. These factors can include things in a mother’s environment, what she eats or drinks, or the medicines she uses.

• #11 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  As with most forms of congenital heart disease, the causes of truncus arteriosus are unknown. In experimental animal models, truncus arteriosus has been linked to abnormal development of cells from the neural crest that normally inhabit the outflow region of the developing heart. This is thought to be an important etiologic factor in at least some cases of human truncus arteriosus also. […] As with various other congenital cardiac anomalies of the conotruncal region, a substantial number of patients with truncus arteriosus (approximately 30-40%) have microdeletions within chromosome band 22q11.2, which contains a number of characterized genes. This particular type of chromosomal deletion is thought to affect migration or development of cardiac neural crest cells and may contribute to the pathogenesis of truncus arteriosus in certain cases.

• #12 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta. TA accounts for 4% of all critical congenital heart diseases. The most common cause of TA is 22q11.2 deletion syndrome, accounting for 12-35% of all TA cases. However, no major causes of TA other than 22q11.2 deletion have been reported. […] Recently, biallelic pathogenic variants of TMEM260, which encodes a multipass transmembrane protein, O-mannosyltransferase, have been associated with structural heart defects and renal anomalies syndrome (SHDRA syndrome; MIM #617478), including TA. […] This study highlights TMEM260, especially c.1617del, as a major genetic cause of TA in the Japanese population.

• #13 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  The specific gene product or products responsible for cardiovascular anomalies in individuals with a 22q11 deletion has not been identified definitively in humans, although one of the genes in the 22q11.2 band, TBX1, has been shown to be involved in pharyngeal arch and conotruncal development. Extensive research regarding truncus arteriosus and band 22q11 association is being conducted. […] For the most part, other factors that may cause truncus arteriosus in humans have not been clearly identified, although potential associations have been suggested, such as the following: […] Other sporadic chromosomal and genetic abnormalities have been reported in humans with truncus arteriosus, including duplication of chromosome arm 8q and mutation of the NKX2.6 and GATA6 genes. […] Several studies found that children of mothers with significant diabetes mellitus during pregnancy had an increased incidence of truncus arteriosus (as well as other conotruncal malformations); however, this is not widely recognized as a significant risk factor.

• #14 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  The specific gene product or products responsible for cardiovascular anomalies in individuals with a 22q11 deletion has not been identified definitively in humans, although one of the genes in the 22q11.2 band, TBX1, has been shown to be involved in pharyngeal arch and conotruncal development. Extensive research regarding truncus arteriosus and band 22q11 association is being conducted. […] For the most part, other factors that may cause truncus arteriosus in humans have not been clearly identified, although potential associations have been suggested, such as the following: […] Other sporadic chromosomal and genetic abnormalities have been reported in humans with truncus arteriosus, including duplication of chromosome arm 8q and mutation of the NKX2.6 and GATA6 genes. […] Several studies found that children of mothers with significant diabetes mellitus during pregnancy had an increased incidence of truncus arteriosus (as well as other conotruncal malformations); however, this is not widely recognized as a significant risk factor.

• #15 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  The specific gene product or products responsible for cardiovascular anomalies in individuals with a 22q11 deletion has not been identified definitively in humans, although one of the genes in the 22q11.2 band, TBX1, has been shown to be involved in pharyngeal arch and conotruncal development. Extensive research regarding truncus arteriosus and band 22q11 association is being conducted. […] For the most part, other factors that may cause truncus arteriosus in humans have not been clearly identified, although potential associations have been suggested, such as the following: […] Other sporadic chromosomal and genetic abnormalities have been reported in humans with truncus arteriosus, including duplication of chromosome arm 8q and mutation of the NKX2.6 and GATA6 genes. […] Several studies found that children of mothers with significant diabetes mellitus during pregnancy had an increased incidence of truncus arteriosus (as well as other conotruncal malformations); however, this is not widely recognized as a significant risk factor.

• #16 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta. TA accounts for 4% of all critical congenital heart diseases. The most common cause of TA is 22q11.2 deletion syndrome, accounting for 12-35% of all TA cases. However, no major causes of TA other than 22q11.2 deletion have been reported. […] Recently, biallelic pathogenic variants of TMEM260, which encodes a multipass transmembrane protein, O-mannosyltransferase, have been associated with structural heart defects and renal anomalies syndrome (SHDRA syndrome; MIM #617478), including TA. […] This study highlights TMEM260, especially c.1617del, as a major genetic cause of TA in the Japanese population.

• #17 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  We identified a prevalent loss-of-function variant of TMEM260, c.1617del, in 8/22 alleles from the 11 Japanese TA patients analyzed who did not have a 22q11.2 deletion: three patients were homozygous for c.1617del variants and two patients harbored compound heterozygous variants of TMEM260. […] Based on the allele frequency of the c.1617del variant (0.36%) in the Japanese population, the incidence of biallelic c.1617del variants in the Japanese population was calculated as 1 in approximately 76,700 births. Collectively, approximately 26% of Japanese patients with TA could be explained by the homozygous c.1617del variants in TMEM260. […] Our study suggests that a genetic cause, including 22q11.2 deletion and mutations in TMEM260, GATA6, or NOTCH1, can be identified in more than half of Japanese patients with TA.

• #18 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  We identified a prevalent loss-of-function variant of TMEM260, c.1617del, in 8/22 alleles from the 11 Japanese TA patients analyzed who did not have a 22q11.2 deletion: three patients were homozygous for c.1617del variants and two patients harbored compound heterozygous variants of TMEM260. […] Based on the allele frequency of the c.1617del variant (0.36%) in the Japanese population, the incidence of biallelic c.1617del variants in the Japanese population was calculated as 1 in approximately 76,700 births. Collectively, approximately 26% of Japanese patients with TA could be explained by the homozygous c.1617del variants in TMEM260. […] Our study suggests that a genetic cause, including 22q11.2 deletion and mutations in TMEM260, GATA6, or NOTCH1, can be identified in more than half of Japanese patients with TA.

• #19 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  We identified a prevalent loss-of-function variant of TMEM260, c.1617del, in 8/22 alleles from the 11 Japanese TA patients analyzed who did not have a 22q11.2 deletion: three patients were homozygous for c.1617del variants and two patients harbored compound heterozygous variants of TMEM260. […] Based on the allele frequency of the c.1617del variant (0.36%) in the Japanese population, the incidence of biallelic c.1617del variants in the Japanese population was calculated as 1 in approximately 76,700 births. Collectively, approximately 26% of Japanese patients with TA could be explained by the homozygous c.1617del variants in TMEM260. […] Our study suggests that a genetic cause, including 22q11.2 deletion and mutations in TMEM260, GATA6, or NOTCH1, can be identified in more than half of Japanese patients with TA.

• #20 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  As with most forms of congenital heart disease, the causes of truncus arteriosus are unknown. In experimental animal models, truncus arteriosus has been linked to abnormal development of cells from the neural crest that normally inhabit the outflow region of the developing heart. This is thought to be an important etiologic factor in at least some cases of human truncus arteriosus also. […] As with various other congenital cardiac anomalies of the conotruncal region, a substantial number of patients with truncus arteriosus (approximately 30-40%) have microdeletions within chromosome band 22q11.2, which contains a number of characterized genes. This particular type of chromosomal deletion is thought to affect migration or development of cardiac neural crest cells and may contribute to the pathogenesis of truncus arteriosus in certain cases.

• #21 Persistent truncus arteriosus – Wikipedia

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

  Persistent truncus arteriosus (PTA), often referred to simply as truncus arteriosus, is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta. This results in one arterial trunk arising from the heart and providing mixed blood to the coronary arteries, pulmonary arteries, and systemic circulation. […] Most of the time, this defect occurs spontaneously. Genetic disorders and teratogens (viruses, metabolic imbalance, and industrial or pharmacological agents) have been associated as possible causes. Up to 50% (varies in studies) of cases are associated with chromosome 22q11 deletions (DiGeorge Syndrome). The neural crest, specifically a population known as the cardiac neural crest, directly contributes to the aorticopulmonary septum.

• #22 Persistent truncus arteriosus – Wikipedia

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

  Microablation of the cardiac neural crest in developing chick embryos and genetic anomalies affecting this population of cells in rodents results in persistent truncus arteriosus. […] Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors (fibroblast growth factor 8 and bone morphogenetic protein), transcription factors (T-box, Pax, Nkx2-5, GATA-6, and Forkhead), and gap junction proteins (Connexin).

• #23 Persistent truncus arteriosus – Wikipedia

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

  Microablation of the cardiac neural crest in developing chick embryos and genetic anomalies affecting this population of cells in rodents results in persistent truncus arteriosus. […] Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors (fibroblast growth factor 8 and bone morphogenetic protein), transcription factors (T-box, Pax, Nkx2-5, GATA-6, and Forkhead), and gap junction proteins (Connexin).

• #24 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #25 Truncus Arteriosus: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14785-truncus-arteriosus

  Truncus arteriosus causes oxygen-poor and oxygen-rich blood to mix before leaving your baby’s heart. […] Scientists dont fully understand what causes truncus arteriosus. In children born with certain genetic syndromes, like DiGeorge syndrome, the gene variations that cause the disorder are responsible for this heart defect. More generally, we know that truncus arteriosus happens when the fetal heart doesnt develop correctly during pregnancy. […] But for unknown reasons, the truncus might not form in this way. Instead, the truncus remains (persists) as a single common artery. […] Your baby may have a higher risk of developing truncus arteriosus or other congenital heart defects if youre pregnant and: Have diabetes, Have certain viral infections, like rubella, Use alcohol or recreational drugs, Are exposed to lead or other harmful substances (teratogens).

• #26 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #27 Truncus Arteriosus: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/truncus-arteriosus

  What Causes Truncus Arteriosus? There is no clear explanation for why the pulmonary artery does not form two separate blood vessels. This condition occurs during the early stages of fetal development. Some babies may have congenital heart defects caused by chromosomal changes. There are some thoughts that environmental conditions a mother was exposed to during fetal development could possibly cause truncus arteriosus. Also, what a mother eats, drinks, or certain medications may be possible causes of a birth defect. […] The exact cause of truncus arteriosus is unknown. However, there are certain factors that could increase the likihood of a baby being born with a heart defect: Uncontrolled diabetes during pregnancy Pregnant women with high blood sugar, also known as gestational diabetes, who are not properly monitored, may be at increased risk of having a baby born with birth defects, including heart defects. Viral infections during pregnancy Contracting rubella (German measles) or another type of viral infection during early pregnancy increases a babys risk for developing a congenital heart defect. Medications There are certain medications that pregnant women should avoid because of the risk of harm to their unborn child. Chromosomal disorders Children born with an extra chromosome or chromosomal damage are at greater risk of developing DiGeorges syndrome or Velocardiofacial syndrome, which increases the risk of developing truncus arteriosus. Smoking during pregnancy Smoking during pregnancy increases the risk for a baby to be born with a heart defect. Drinking alcohol while pregnant Drinking alcohol, especially during the first trimester of pregnancy, increases a babys risk of developing a congenital heart defect. Obesity Women who are obese have an increased risk of having a baby with a congenital heart defect.

• #28 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  The specific gene product or products responsible for cardiovascular anomalies in individuals with a 22q11 deletion has not been identified definitively in humans, although one of the genes in the 22q11.2 band, TBX1, has been shown to be involved in pharyngeal arch and conotruncal development. Extensive research regarding truncus arteriosus and band 22q11 association is being conducted. […] For the most part, other factors that may cause truncus arteriosus in humans have not been clearly identified, although potential associations have been suggested, such as the following: […] Other sporadic chromosomal and genetic abnormalities have been reported in humans with truncus arteriosus, including duplication of chromosome arm 8q and mutation of the NKX2.6 and GATA6 genes. […] Several studies found that children of mothers with significant diabetes mellitus during pregnancy had an increased incidence of truncus arteriosus (as well as other conotruncal malformations); however, this is not widely recognized as a significant risk factor.

• #29 Truncus Arteriosus: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/truncus-arteriosus

  What Causes Truncus Arteriosus? There is no clear explanation for why the pulmonary artery does not form two separate blood vessels. This condition occurs during the early stages of fetal development. Some babies may have congenital heart defects caused by chromosomal changes. There are some thoughts that environmental conditions a mother was exposed to during fetal development could possibly cause truncus arteriosus. Also, what a mother eats, drinks, or certain medications may be possible causes of a birth defect. […] The exact cause of truncus arteriosus is unknown. However, there are certain factors that could increase the likihood of a baby being born with a heart defect: Uncontrolled diabetes during pregnancy Pregnant women with high blood sugar, also known as gestational diabetes, who are not properly monitored, may be at increased risk of having a baby born with birth defects, including heart defects. Viral infections during pregnancy Contracting rubella (German measles) or another type of viral infection during early pregnancy increases a babys risk for developing a congenital heart defect. Medications There are certain medications that pregnant women should avoid because of the risk of harm to their unborn child. Chromosomal disorders Children born with an extra chromosome or chromosomal damage are at greater risk of developing DiGeorges syndrome or Velocardiofacial syndrome, which increases the risk of developing truncus arteriosus. Smoking during pregnancy Smoking during pregnancy increases the risk for a baby to be born with a heart defect. Drinking alcohol while pregnant Drinking alcohol, especially during the first trimester of pregnancy, increases a babys risk of developing a congenital heart defect. Obesity Women who are obese have an increased risk of having a baby with a congenital heart defect.

• #30 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #31 Truncus Arteriosus – Types, Risk Factors, Clinical Features, Management & Prevention

  https://www.medindia.net/health/conditions/truncus-arteriosus.htm

  Truncus arteriosus is a developmental defect of the heart where there is only a single artery in the heart that carries blood both to the lungs and the rest of the body instead of two separate vessels, one to the lung (pulmonary artery) and the other (aorta) to the rest of the body. […] The exact etiology is not known. However there have been several risk factors associated with the development of this condition, which occurs in the womb during fetal development. The risk factors include the following: Family history of congenital heart disease, German measles (rubella), a viral illness during pregnancy, Poorly controlled diabetes in the pregnant woman, Smoking and alcohol during pregnancy, Chromosomal disorders Babies with Di Georges syndrome, velocardiofacial syndrome appear to be at increased risk of developing truncus arteriosus, Certain medications taken during pregnancy are associated with defective heart development, for example antiseizure drugs and Ibuprofen.

• #32 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #33 Truncus Arteriosus: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/truncus-arteriosus

  What Causes Truncus Arteriosus? There is no clear explanation for why the pulmonary artery does not form two separate blood vessels. This condition occurs during the early stages of fetal development. Some babies may have congenital heart defects caused by chromosomal changes. There are some thoughts that environmental conditions a mother was exposed to during fetal development could possibly cause truncus arteriosus. Also, what a mother eats, drinks, or certain medications may be possible causes of a birth defect. […] The exact cause of truncus arteriosus is unknown. However, there are certain factors that could increase the likihood of a baby being born with a heart defect: Uncontrolled diabetes during pregnancy Pregnant women with high blood sugar, also known as gestational diabetes, who are not properly monitored, may be at increased risk of having a baby born with birth defects, including heart defects. Viral infections during pregnancy Contracting rubella (German measles) or another type of viral infection during early pregnancy increases a babys risk for developing a congenital heart defect. Medications There are certain medications that pregnant women should avoid because of the risk of harm to their unborn child. Chromosomal disorders Children born with an extra chromosome or chromosomal damage are at greater risk of developing DiGeorges syndrome or Velocardiofacial syndrome, which increases the risk of developing truncus arteriosus. Smoking during pregnancy Smoking during pregnancy increases the risk for a baby to be born with a heart defect. Drinking alcohol while pregnant Drinking alcohol, especially during the first trimester of pregnancy, increases a babys risk of developing a congenital heart defect. Obesity Women who are obese have an increased risk of having a baby with a congenital heart defect.

• #34 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #35 Truncus Arteriosus: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/truncus-arteriosus

  What Causes Truncus Arteriosus? There is no clear explanation for why the pulmonary artery does not form two separate blood vessels. This condition occurs during the early stages of fetal development. Some babies may have congenital heart defects caused by chromosomal changes. There are some thoughts that environmental conditions a mother was exposed to during fetal development could possibly cause truncus arteriosus. Also, what a mother eats, drinks, or certain medications may be possible causes of a birth defect. […] The exact cause of truncus arteriosus is unknown. However, there are certain factors that could increase the likihood of a baby being born with a heart defect: Uncontrolled diabetes during pregnancy Pregnant women with high blood sugar, also known as gestational diabetes, who are not properly monitored, may be at increased risk of having a baby born with birth defects, including heart defects. Viral infections during pregnancy Contracting rubella (German measles) or another type of viral infection during early pregnancy increases a babys risk for developing a congenital heart defect. Medications There are certain medications that pregnant women should avoid because of the risk of harm to their unborn child. Chromosomal disorders Children born with an extra chromosome or chromosomal damage are at greater risk of developing DiGeorges syndrome or Velocardiofacial syndrome, which increases the risk of developing truncus arteriosus. Smoking during pregnancy Smoking during pregnancy increases the risk for a baby to be born with a heart defect. Drinking alcohol while pregnant Drinking alcohol, especially during the first trimester of pregnancy, increases a babys risk of developing a congenital heart defect. Obesity Women who are obese have an increased risk of having a baby with a congenital heart defect.

• #36 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #37 Truncus Arteriosus: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/heart/truncus-arteriosus

  What Causes Truncus Arteriosus? There is no clear explanation for why the pulmonary artery does not form two separate blood vessels. This condition occurs during the early stages of fetal development. Some babies may have congenital heart defects caused by chromosomal changes. There are some thoughts that environmental conditions a mother was exposed to during fetal development could possibly cause truncus arteriosus. Also, what a mother eats, drinks, or certain medications may be possible causes of a birth defect. […] The exact cause of truncus arteriosus is unknown. However, there are certain factors that could increase the likihood of a baby being born with a heart defect: Uncontrolled diabetes during pregnancy Pregnant women with high blood sugar, also known as gestational diabetes, who are not properly monitored, may be at increased risk of having a baby born with birth defects, including heart defects. Viral infections during pregnancy Contracting rubella (German measles) or another type of viral infection during early pregnancy increases a babys risk for developing a congenital heart defect. Medications There are certain medications that pregnant women should avoid because of the risk of harm to their unborn child. Chromosomal disorders Children born with an extra chromosome or chromosomal damage are at greater risk of developing DiGeorges syndrome or Velocardiofacial syndrome, which increases the risk of developing truncus arteriosus. Smoking during pregnancy Smoking during pregnancy increases the risk for a baby to be born with a heart defect. Drinking alcohol while pregnant Drinking alcohol, especially during the first trimester of pregnancy, increases a babys risk of developing a congenital heart defect. Obesity Women who are obese have an increased risk of having a baby with a congenital heart defect.

• #38 Truncus Arteriosus: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14785-truncus-arteriosus

  Truncus arteriosus causes oxygen-poor and oxygen-rich blood to mix before leaving your baby’s heart. […] Scientists dont fully understand what causes truncus arteriosus. In children born with certain genetic syndromes, like DiGeorge syndrome, the gene variations that cause the disorder are responsible for this heart defect. More generally, we know that truncus arteriosus happens when the fetal heart doesnt develop correctly during pregnancy. […] But for unknown reasons, the truncus might not form in this way. Instead, the truncus remains (persists) as a single common artery. […] Your baby may have a higher risk of developing truncus arteriosus or other congenital heart defects if youre pregnant and: Have diabetes, Have certain viral infections, like rubella, Use alcohol or recreational drugs, Are exposed to lead or other harmful substances (teratogens).

• #39 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans. […] DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11. […] The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction. […] Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.

• #40 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans. […] DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11. […] The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction. […] Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.

• #41 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans. […] DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11. […] The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction. […] Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.

• #42 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans. […] DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11. […] The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction. […] Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.

• #43 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  Although certain teratogens (eg, retinoic acid, bis-diamine) have been found to predispose to truncus arteriosus in animal models, no evidence suggests that these or others contribute importantly to this anomaly in humans. […] DiGeorge syndrome or velocardiofacial syndrome, often included together as variations of CATCH-22 syndrome, are present in approximately 30-35% of patients with truncus arteriosus; most of these patients have deletions in band 22q11. […] The most common noncardiac anomalies in patients with truncus arteriosus are those typically found in association with CATCH-22 syndrome, such as velopharyngeal insufficiency, cleft palate, and thymic and parathyroid dysfunction. […] Other noncardiac anomalies found sporadically in patients with truncus arteriosus include renal abnormalities, vertebral and rib anomalies, and anomalies of the alimentary tract.

• #44 Truncus arteriosus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/truncus-arteriosus?lang=us

  Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly. […] It accounts for up to 2% of congenital cardiac anomalies and is almost always associated with a ventricular septal defect (VSD) to allow circulatory flow circuit completion. […] There is a lack of normal separation of the embryological truncus arteriosus into a separate aorta and pulmonary trunk. This results in a single arterial vessel that originates from the heart that supplies the systemic, pulmonary, and coronary circulations.

• #45 Truncus Arteriosus (TA) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=truncus-arteriosus-ta-90-P01826

  Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] Truncus arteriosus causes oxygen-poor (blue) blood and oxygen-rich blood to mix and to be pumped to the body. This causes blue skin, lips, or nails (cyanosis). […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life.

• #46 Truncus Arteriosus (TA) | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/diseases-and-conditions—pediatrics/truncus-arteriosus

  Truncus arteriosus is a heart defect that is present at birth (congenital). It happens when there is an abnormal connection between the aorta and pulmonary artery. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life. […] The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #47 Truncus Arteriosus (TA) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=truncus-arteriosus-ta-90-P01826

  Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] Truncus arteriosus causes oxygen-poor (blue) blood and oxygen-rich blood to mix and to be pumped to the body. This causes blue skin, lips, or nails (cyanosis). […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life.

• #48 Truncus Arteriosus (TA) – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/topic/default?id=truncus-arteriosus-ta-90-P01826

  Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] Truncus arteriosus causes oxygen-poor (blue) blood and oxygen-rich blood to mix and to be pumped to the body. This causes blue skin, lips, or nails (cyanosis). […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life.

• #49 Truncus Arteriosus (TA) | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/diseases-and-conditions—pediatrics/truncus-arteriosus

  Truncus arteriosus is a heart defect that is present at birth (congenital). It happens when there is an abnormal connection between the aorta and pulmonary artery. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life. […] The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #50 Truncus Arteriosus > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/truncus-arteriosus

  Truncus arteriosus is a congenital heart defect that prevents the heart from sending enough oxygen-rich blood throughout the body. This occurs because blood vessels within a fetus’s heart did not develop normally during pregnancy. The condition causes heart failure, and, without treatment, babies may die within the first year of life. […] Doctors aren’t sure why some babies are born with truncus arteriosus, although a genetic or chromosomal abnormality may be responsible. […] A strong association exists between truncus arteriosus and DiGeorge syndrome, which is also known as 22q11.2 deletion syndrome.

• #51 Truncus Arteriosus (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/truncus-arteriosus.html

  Truncus arteriosus (TRUNG-kus ar-teer-ee-OH-sus) is a heart defect that happens when a baby is born with one large artery carrying blood to the lungs and body instead of two separate arteries. […] In some children, this happens because of a genetic defect, 22q11 deletion syndrome (also called DiGeorge syndrome). In other children, it’s not yet known why it happens. […] If truncus arteriosus isn’t repaired by surgery, most babies won’t survive.

• #52 Truncus Arteriosus (TA) | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions—pediatrics/t/truncus-arteriosus.html

  Truncus arteriosus is a heart defect that is present at birth (congenital). It happens when there is an abnormal connection between the aorta and pulmonary artery. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Truncus arteriosus must be treated with surgery to fix the defects. Typically surgery needs to occur during the first few days or weeks of life. […] The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #53 Truncus Arteriosus (TA) | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/diseases-and-conditions—pediatrics/truncus-arteriosus

  Truncus arteriosus is a heart defect that is present at birth (congenital). It happens when there is an abnormal connection between the aorta and pulmonary artery. […] Some congenital heart defects may occur more often in certain families. These are called genetic defects. Truncus arteriosus is often seen in babies born with 22q11.2 deletion syndrome. But in most cases, the cause is not known. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. […] The low levels of oxygen may not be enough to meet the body’s needs and sustain life. […] The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #54 Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population | Journal of Human Genetics

  https://www.nature.com/articles/s10038-024-01223-y

  We identified a prevalent loss-of-function variant of TMEM260, c.1617del, in 8/22 alleles from the 11 Japanese TA patients analyzed who did not have a 22q11.2 deletion: three patients were homozygous for c.1617del variants and two patients harbored compound heterozygous variants of TMEM260. […] Based on the allele frequency of the c.1617del variant (0.36%) in the Japanese population, the incidence of biallelic c.1617del variants in the Japanese population was calculated as 1 in approximately 76,700 births. Collectively, approximately 26% of Japanese patients with TA could be explained by the homozygous c.1617del variants in TMEM260. […] Our study suggests that a genetic cause, including 22q11.2 deletion and mutations in TMEM260, GATA6, or NOTCH1, can be identified in more than half of Japanese patients with TA.

• #55 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/892489-overview

  As with most forms of congenital heart disease, the causes of truncus arteriosus are unknown. In experimental animal models, truncus arteriosus has been linked to abnormal development of cells from the neural crest that normally inhabit the outflow region of the developing heart. This is thought to be an important etiologic factor in at least some cases of human truncus arteriosus also. […] As with various other congenital cardiac anomalies of the conotruncal region, a substantial number of patients with truncus arteriosus (approximately 30-40%) have microdeletions within chromosome band 22q11.2, which contains a number of characterized genes. This particular type of chromosomal deletion is thought to affect migration or development of cardiac neural crest cells and may contribute to the pathogenesis of truncus arteriosus in certain cases.

• #56 Truncus arteriosus // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/truncus-arteriosus

  Truncus arteriosus occurs as a baby’s heart forms during pregnancy. There’s often no clear cause. Genetics and environmental factors may play a role. […] The exact cause of truncus arteriosus is unknown. But some things might increase the risk of a heart problem at birth. Risk factors include: […] Some infections can hurt a developing baby. For example, having German measles during pregnancy can cause changes in a baby’s heart development. German measles also is called rubella. […] Some medicines can cause heart problems and other health conditions in a baby. […] An extra or irregular chromosome increases the risk of truncus arteriosus. Examples are DiGeorge syndrome, also called 22q11.2 deletion syndrome, and velocardiofacial syndrome. […] Smoking during pregnancy increases the risk of heart conditions in your baby. […] Drinking alcohol during pregnancy increases the risk of heart conditions and other health issues in a baby. […] Obesity increases the risk of giving birth to a baby with a heart condition.

• #57 Truncus Arteriosus: Causes, Symptoms, and Treatment

  https://www.medicoverhospitals.in/diseases/truncus-arteriosus/

  Truncus arteriosus is a complex and rare congenital heart defect, present at birth, characterized by the formation of a single blood vessel (truncus) arising from the heart, supplying blood to both the pulmonary and systemic circulations. […] The precise etiology of truncus arteriosus remains incompletely understood, yet it is believed to stem from developmental anomalies during fetal heart formation. Genetic and environmental factors likely contribute to this congenital defect. […] Chromosomal abnormalities, particularly 22q11.2 deletion syndrome (DiGeorge syndrome), have been strongly associated with truncus arteriosus. Mutations in specific genes involved in cardiac development, such as the TBX1 gene, are also implicated in the pathogenesis of this condition. […] Prenatal exposure to certain environmental factors, including maternal diabetes, alcohol consumption, and retinoic acid, have been suggested as potential risk factors. These factors can interfere with the normal development of the fetal heart, leading to congenital defects such as truncus arteriosus. […] Truncus arteriosus is a congenital heart defect caused by improper development of the heart during fetal growth, leading to a single blood vessel from the heart.

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