Materiały źródłowe

• #1 Truncus Arteriosus | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/30641

  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. […] The mixing of pulmonary and systemic blood and variations in pulmonary blood flow and PVR initiate the pathophysiologic mechanisms of truncus arteriosus. PVR is relatively high starting the 1st week of life. Shunting of mixed oxygenated and deoxygenated blood into the systemic circuit increases, causing mild cyanosis. Pulmonary overcirculation causes congestive heart failure as PVR drops and PBF rises. If untreated, pulmonary overcirculation eventually leads to irreversible pulmonary vascular disease with fixed pulmonary hypertension or Eisenmenger syndrome.

• #2 Truncus Arteriosus | SpringerLink

  https://link.springer.com/10.1007/978-1-4471-4619-3_48?fromPaywallRec=true

  Truncus arteriosus is a rare anomaly that accounts for 0.44% of all cases of congenital heart disease. The condition is characterized by a single vessel arising from the heart, overriding the ventricular septum and giving rise to the systemic, coronary, and pulmonary circulations. […] In this chapter, we will review the molecular as well as the integrated physiology of truncus arteriosus, as well as review the clinically relevant aspects, including pathophysiology, classification, evaluation, surgical correction and postoperative care.

• #3 Truncus Arteriosus | Thoracic Key

  https://thoracickey.com/truncus-arteriosus-9/

  Persistent truncus arteriosus results from failure of the truncal ridges and aortopulmonary septum to develop and divide into the aorta and pulmonary trunk. […] The mechanism for failure of the truncal septation remains unclear. Deficiencies in neural crest development and migration have been implicated as a possible mechanism for conotruncal anomalies. […] A microdeletion of chromosome 22q11 has been identified in 20% to 40% of cases of truncus arteriosus.

• #4 Truncus Arteriosus | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/truncus-arteriosus

  When the fetus develops during pregnancy, the heart starts with a single large blood vessel coming from the heart called the truncus arteriosus. […] Sometimes the single large blood vessel fails to divide during fetal development and the baby is born with a heart that has one artery carrying blood out of it. This congenital heart disease is known as truncus arteriosus or persistent truncus arteriosus (the trunk „persists”). […] The undivided trunk is attached to the heart as one artery straddling the bottom chambers and then divides into arteries taking blood to the lungs and body. The oxygen-poor blood from the right ventricle (bottom chamber) and the oxygen-rich blood from the left ventricle (bottom chamber) mix when ejected out into the trunk, and more blood than normal goes back to the lungs. This makes it harder for the infant to breathe.

• #5 Truncus arteriosus – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/truncus-arteriosus/symptoms-causes/syc-20364247

  In truncus arteriosus, one large vessel comes out of the heart, instead of two separate ones. There’s also usually a hole in the wall between the lower heart chambers, called the ventricles. The hole is called a ventricular septal defect. In truncus arteriosus, oxygen-rich blood, shown in red, and oxygen-poor blood, shown in blue, mix together. The mixed blood is shown in purple. It doesn’t contain enough oxygen for the body’s needs. […] 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 way the unborn baby’s heart forms during pregnancy is complex. At some point, there is a single large blood vessel leading out of the heart. The vessel is called the truncus arteriosus. It usually splits in two as the unborn baby grows in the womb. One part becomes the lower end of the body’s main artery, called the aorta. The other part becomes the lower part of the pulmonary artery.

• #6 📃 Truncus arteriosus

  https://thefetus.net/content/truncus-arteriosus-1

  Pathogenesis: Failure of the aorticopulmonary septum to develop and separate the truncus arteriosus into the aorta and the pulmonary artery. […] Persistent truncus arteriosus is thought to result from failure of the aorticopulmonary septum to develop and subsequently divide the truncus into the aorta and the pulmonary trunk.

• #7 Truncus Arteriosus – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30521195/

  Truncus arteriosus is a rare, congenital, cyanotic cardiac anomaly characterized by a ventricular septal defect (VSD), a single truncal valve, and a common ventricular outflow tract. Systemic and pulmonary venous blood mix at the VSD and desaturated blood is ejected into the outflow tract. The pulmonary arteries arise directly from the truncus. Thus, pulmonary vascular resistance (PVR) determines the amount of pulmonary blood flow (PBF). Death in infancy is probable without surgical intervention. Long-term surgical outcomes are positive, but residual and potential complications require long-term cardiology follow-up. […] The most salient pathologic finding in truncus arteriosus is the absence of an aorticopulmonary septum (21%). However, the most common truncus arteriosus type is a partially formed aorticopulmonary septum (50%).

• #8 Cardiovascular Pathology

  https://webpath.med.utah.edu/CVHTML/CV103.html

  The diagram above depicts the findings with a persistent truncus arteriosus. This occurs when there is failure of fusion and descent of the spiral ridges of the truncus and conus that would ordinarily divide into aorta and pulmonic trunk respectively. […] When the spiral septum fails to completely descend, the aortic and pulmonic trunks are left undivided at their outflow. The truncus overrides both ventricles. The persistent truncus is always accompanied by a membranous ventricular septal defect.

• #9 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  Pathophysiology of truncus arteriosus is typified by pulmonary overcirculation and systemic ventricular volume overload. Outflow from both ventricles is directed into the common arterial trunk. […] 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. […] 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.

• #10 Pathogenesis of Persistent Truncus Arteriosus

  https://medica-musc.researchcommons.org/theses/378/

  Congenital heart defects (CHDs) are the most common type of birth defect affecting 8 out of every 1,000 newborns. Persistent Truncus Arteriosus (PTA) comprises 1% of all CHDs and involves the malformation of the outflow tract (OFT) of the heart. The OFT connects the embryonic ventricles with the aortic sac. In normal heart development the aorta and the pulmonary trunk develop via septation of the OFT through the formation of the aorticopulmonary septum by the cardiac neural crest (CNC) cells. Thus, the CNC cells are known to play an important role in OFT septation. Another key cell type involved in OFT development is second heart field (SHF) cells. SHF cells are a population of cardiac progenitor cells in the pharyngeal mesoderm that give rise to OFT myocardium, smooth muscle, and endothelial cells. Although it is known that signaling between CNC cells and SHF cells is required for OFT development, the molecular mechanisms involved have yet to be fully delineated.

• #11 Truncus Arteriosus

  https://www.pediatriconcall.com/articles/pediatric-cardiology/truncus-arteriosus/truncus-arteriosus-introduction

  The actual cause of the embryological disturbance that results in the development of truncus arteriosus lesions is not known. […] Monoallelic microdeletion of chromosome 22q11 (DiGeorge syndrome) is identified in up to 40% of patients with truncus arteriosus. […] In the early neonatal period usually the babies are asymptomatic due to high pulmonary vascular resistance (PVR) with semi-balanced circulation and arterial saturation 75-80% and episodic cyanosis. When the PVR starts to fall down after the first week of life the saturation will start to increase with the starting of pulmonary overflow and heart failure symptoms if there is no stenosis in the pulmonary arteries. Usually, if the patient can tolerate heart failure in the first two months the PVR will start to increase and the symptoms may reduce, but they will be prone to irreversible pulmonary hypertension by 6 months of age. […] Additional feature may appear depend on any associated anomaly (like truncal valve stenosis or regurgitation, etc.).

• #12 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). The cardiac neural crest also contributes the smooth muscle of the great arteries.

• #13 Pathogenesis of Persistent Truncus Arteriosus

  https://medica-musc.researchcommons.org/theses/378/

  This study established that BMP signaling in the SHF is important to the proper development of the OFT myocardium. This study also established that the Mef2c-AHF-cre;Smofl/fl mouse model serves as a reliable model for studying the pathogenesis of PTA, while the Mef2c-AHF-cre;Alk3fl/fl mouse model does not.

• #14 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.

• #15 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

  In this study, 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. […] Collectively, approximately 26% of Japanese patients with TA could be explained by the homozygous c.1617del variants in TMEM260, as the incidence of TA in Japan is estimated to be approximately 1/20,000 births. […] 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.

• #16 Truncus Arteriosus | Pediatric Echocardiography

  https://pedecho.org/library/fetal/fetal-truncus

  Truncus arteriosus (TA) is a rare form of congenital heart disease occurring in 1-3% of patients with congenital heart disease. Truncus arteriosus has an estimated birth incidence of approximately 7 to 21 per 100,000 live births. […] Persistent truncus arteriosus results from incomplete or failed septation. It is characterized by a single great artery arising from the heart with a single semilunar valve that overrides the right and left ventricles. The common trunk gives rise to the pulmonary arteries, providing systemic, pulmonary, and coronary perfusion. […] A ventricular septal defect (VSD) is most commonly associated with TA, as well as anomalies with truncal valve, aortic arch and coronary arteries. […] Approximately 50% of newborns with truncus arteriosus have associated genetic disorder, most commonly the chromosome 22q11.2 deletion syndrome (~20% of the cases). Truncus arteriosus has also been described in trisomy 18, trisomy 21, 14q deletion, GATA6 mutations, and chromosome 3q22.3 deletions.

• #17 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. […] 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. […] In persistent truncus arteriosus, 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 (VSD). […] Different types are distinguished based on the origin of the pulmonary arteries and associated defects.

• #18 Persistent truncus arteriosus pathophysiology & etiology – wikidoc

  https://www.wikidoc.org/index.php/Persistent_truncus_arteriosus_pathophysiology_%26_etiology

  In truncus arteriosus, a single artery comes out of the ventricles. There is usually also a large hole between the two ventricles (ventricular septal defect). As a result, the blue (without oxygen) and red (oxygen-rich) blood mix. […] If this condition is not treated, two problems occur: Too much blood circulation in the lungs may cause extra fluid to build up in and around them, making it difficult to breathe. […] The blood vessels to the lungs become permanently damaged. Over time, it becomes very hard for the heart to force blood to them. This is called pulmonary hypertension and it can be life-threatening. […] Anatomical changes associated with this disorder includes: single artery arising from the two ventricles which gives rise to both the aortic and pulmonary vessels, abnormal truncal valve, right sided aortic arch in about 30% of cases, large ventricular septal defect, pulmonary hypertension, complete mixing occurring at level of the great vessel, right-to-left shunting of blood.

• #19 Truncus arteriosus – WikEM

  https://wikem.org/wiki/Truncus_arteriosus

  Blood is pumped through a single truncal valve into a truncal artery which gives rise to the aorta and the pulmonary arteries. […] Over first several weeks of life, PVR drops, left to right shunting increases, leading to heart failure. […] Mixing of systemic and pulmonary blood leads to mild to moderate cyanosis. […] Pulmonary vascular obstructive disease may develop in surgically uncorrected patients. […] Primary surgical repair during the neonatal period (less than 30 days of age) improves survival rate at one year of age of 80% vs 15% in uncorrected patients.

• #20 Truncus Arteriosus | Concise Medical Knowledge

  https://www.lecturio.com/concepts/truncus-arteriosus/

  Truncus arteriosus (TA) is a congenital heart defect characterized by the persistence of a common cardiac arterial trunk tract that fails to divide into the pulmonary artery and aorta during embryonal development. […] Abnormal or absent growth of the trunco-conal septum causes truncal root to remain a single vessel. […] Failure of the trunco-conal septum to fuse with the intraventricular septum results in VSD formation and associated valvular abnormalities. […] Single arterial trunk results in mixing of oxygenated and deoxygenated blood. […] Blood pumped to both systemic and pulmonary circulation at the same pressure. […] Prolonged pulmonary overcirculation leads to increased muscular tone of pulmonary vasculature. […] Increased vascular tone leads to increased pulmonary vascular resistance.

• #21 Congenital Defects Tutorial – Congenital Heart Defects | Atlas of Human Cardiac Anatomy

  https://www.vhlab.umn.edu/atlas/congenital-defects-tutorial/septal-defects/persistent-truncus-arteriosus.shtml

  Truncus arteriosus is a congenital defect characterized by the presence of a single arterial trunk that originates from the heart. […] The truncus arteriosus defect occurs due to failure in developmental septation of the truncus arteriosus outflow tract. This is caused by the failure of the conotruncal ridges and aortopulmonary septum to develop into the ascending aorta and pulmonary trunk, leaving a single trunk overriding the ventricles and a larger VSD. […] The result of intracardiac mixing of the systemic and pulmonary venous return is systemic desaturation. In the absence of pulmonary stenosis, the presence of a common arterial trunk supplying both the pulmonary and systemic circulations results in pulmonary arterial pressure equal to that in the truncus itself. As a result, the reduction in pulmonary resistance that occurs after birth is not well tolerated. Increased pulmonary blood flow can lead to flooding of the lungs and early pulmonary vascular obstructive disease. Combined with truncal regurgitation which is present in most cases of persistent truncus arteriosus, many infants develop congestive heart failure within the neonatal period.

• #22 Truncus Arteriosus | Concise Medical Knowledge

  https://www.lecturio.com/concepts/truncus-arteriosus/

  Increased pulmonary vascular resistance leads to decreased pulmonary circulation and worsened cyanosis. […] If the truncal valve is regurgitant, during diastole, blood flows back into the heart, resulting in reduced cardiac output. […] Reduced cardiac output causes coronary artery underperfusion and myocardial infarction.

• #23 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. […] Instead of having an aortic valve and a pulmonary valve, babies with this condition have a single common valve (truncal valve). This truncal valve controls blood flow out of the heart and is often abnormal. For example, the valve can be thickened and narrowed, which can block the blood as it leaves the heart. It can also leak, causing blood that leaves the heart to leak back into the heart across the valve. […] 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.

• #24 Truncus arteriosus – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/truncus-arteriosus/symptoms-causes/syc-20364247

  But in some babies, the truncus arteriosus never splits. The wall separating the two lower heart chambers hasn’t closed all the way. This results in a large hole between those chambers, called a ventricular septal defect. […] Babies with truncus arteriosus also often have a problem with the heart valve that controls blood flow from the lower heart chambers to the single vessel. This valve may not close all the way when the heart relaxes. Blood can move the wrong way, back into the heart. This is called truncal valve regurgitation.

• #25 Truncus Arteriosus | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/truncus-arteriosus

  Surgery is typically done in the first few weeks of life after the infant is stabilized. […] The surgical repair of truncus arteriosus uses the heart-lung bypass machine for support. It involves three major parts: Separating the pulmonary arteries from the main truncus, Closing the ventricular septal defect using a patch, Creating a connection between the right ventricle and the pulmonary arteries using a conduit (an artificial tube). […] Problems with the truncal valve are more serious. They can significantly affect the early and late outcomes of these children. The leakier or more narrowed this valve is, the greater the chance that some intervention will need to be done (on average within five to seven years) to prevent severe damage to the heart. […] Some adults with truncus arteriosus have a genetic basis for the condition. Its important that this be identified so that other concerns of their genetic abnormality can be addressed.

• #26 Truncus Arteriosus and Aortopulmonary Window | Thoracic Key

  https://thoracickey.com/truncus-arteriosus-and-aortopulmonary-window/

  Truncus arteriosus is a relatively rare congenital heart defect with a single vascular trunk arising from the heart giving origin to the true pulmonary arteries, aorta, coronary arteries, and brachiocephalic vessels. […] The pathophysiology of truncus arteriosus is one of a total admixture lesion, with mixing occurring at the level of the VSD and proximal truncus. […] Truncal valve regurgitation and, less frequently, stenosis can exacerbate the hemodynamic stresses placed on the heart in truncus arteriosus.

• #27 Truncus Arteriosus > Fact Sheets > Yale Medicine

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

  In a baby with the condition, oxygen-poor blood enters the hearts right atrium and moves to the right ventricle. Because of a VSD, oxygen-poor blood from the right ventricle is able to mix with oxygen-rich blood from the left ventricle. This mixed blood then passes through the truncal valve and into the common trunk. […] Some of the mixed blood that enters the common trunk travels out of the heart to the rest of the body. However, the blood isnt adequately oxygenated to provide the bodys organs, structures, and cells with enough oxygen to function well. […] Doctors arent 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.

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

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

  Patients present with mild cyanosis, significant pulmonary overcirculation, and heart failure; a grade 2 to 4/6 systolic murmur is audible along the left sternal border and a mid-diastolic mitral flow murmur may be audible at the apex, and bounding peripheral pulses. […] Treat heart failure with diuretics, digoxin, and ACE inhibitors; prostaglandin infusion is beneficial to maintain duct patency only in patients with type A4 truncus with interrupted aortic arch or coarctation. […] Do surgical repair early; one or more revisions are usually needed as children grow.

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

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

  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. Normally, the aorta and the pulmonary artery are separate. […] 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. […] Surgery is usually done within the first few weeks after birth to prevent lung damage. The pulmonary arteries are separated from the aorta and re-attached to the right ventricle. The pulmonary arteries may be re-attached directly to the right ventricle or the surgeon may use an artificial tube graft to re-attach them. The ventricular septal defect is also closed. […] 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. […] Truncus arteriosus must be treated with surgery.

• #30 Truncus Arteriosus (TA) | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/truncus-arteriosus-ta

  If not treated, truncus arteriosus may cause complications, such as: Lung damage, Heart failure, Infection of the lining of the heart and heart valves (bacterial endocarditis), Poor growth and development, Diminished ability to function, Easily tired, Death. […] Truncus arteriosus happens when there is an abnormal connection between the aorta and pulmonary artery. It 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. The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #31 Truncus Arteriosus (TA) | University Hospitals

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

  If not treated, truncus arteriosus may cause complications, such as: Lung damage, Heart failure, Infection of the lining of the heart and heart valves (bacterial endocarditis), Poor growth and development, Diminished ability to function, Easily tired, Death. […] The condition must be treated with surgery. Most children who have surgery will live healthy lives.

• #32 Truncus Arteriosus | SpringerLink

  https://link.springer.com/10.1007/978-1-4471-4999-6_48-2

  Truncus Arteriosus is a rare congenital anomaly that is characterized by a single great vessel arising from the heart giving rise to both the systemic and pulmonary circulations in a variety of configurations. […] The embryologic origins involve abnormal neural crest cell migration which is linked to Tbx proteins, which themselves are encoded on the chromosome 22q11 creating a close link to patients with DiGeorge Syndrome. […] Late complications are related to truncal insufficiency and reoperation for conduit replacement.

• #33 Truncus arteriosus Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/truncus-arteriosus

  Surgery is needed to treat this condition. The surgery creates 2 separate arteries. […] In most cases, the truncal vessel is kept as the new aorta. A new pulmonary artery is created using tissue from another source or using a man-made tube. The branch pulmonary arteries are sewn to this new artery. The hole between the ventricles is closed. […] Untreated cases of truncus arteriosus result in death, often during the first year of life.

• #34 Truncus arteriosus: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001111.htm

  Truncus arteriosus is a rare type of heart disease in which a single blood vessel (truncus arteriosus) comes out of the right and left ventricles, instead of the normal 2 vessels (pulmonary artery and aorta). It is present at birth (congenital heart disease). […] With truncus arteriosus, a single artery comes out of the ventricles. There is most often also a large hole between the 2 ventricles (ventricular septal defect). As a result, the blue (without oxygen) and red (oxygen-rich) blood mix. […] If this condition is not treated, two problems occur: Too much blood circulation in the lungs may cause extra fluid to build up in and around them. This makes it hard to breathe. […] If left untreated and more than normal blood flows to the lungs for a long time, the blood vessels to the lungs become permanently damaged. Over time, it becomes very hard for the heart to force blood through them. This is called pulmonary hypertension, which can be life threatening.

• #35 Truncus arteriosus Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/truncus-arteriosus

  Truncus arteriosus is a rare type of heart disease in which a single blood vessel (truncus arteriosus) comes out of the right and left ventricles, instead of the normal 2 vessels (pulmonary artery and aorta). It is present at birth (congenital heart disease). […] With truncus arteriosus, a single artery comes out of the ventricles. There is most often also a large hole between the 2 ventricles (ventricular septal defect). As a result, the blue (without oxygen) and red (oxygen-rich) blood mix. […] If this condition is not treated, two problems occur: Too much blood circulation in the lungs may cause extra fluid to build up in and around them. This makes it hard to breathe. […] If left untreated and more than normal blood flows to the lungs for a long time, the blood vessels to the lungs become permanently damaged. Over time, it becomes very hard for the heart to force blood through them. This is called pulmonary hypertension, which can be life threatening.

• #36 Truncus Arteriosus | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/truncus-arteriosus

  Truncus arteriosus is a life-threatening congenital heart defect; most babies won’t live for more than a few months without treatment. […] Because of enormous strides in medicine and technology, today most children with heart defects such as truncus arteriosus who do receive treatment will go on to lead productive lives as adults.

• #37 Truncus Arteriosus: Symptoms & Treatment

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

  Scientists don’t 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 doesn’t develop correctly during pregnancy. […] Babies with truncus arteriosus need heart surgery within the first weeks of life. The most common procedure is called a Rastelli repair, which creates two separate paths for blood to leave your baby’s heart. […] Your child’s provider may say your child has a specific type of truncus arteriosus. These types describe the anatomy of your child’s left and right pulmonary arteries, which carry blood to their lungs. […] The survival rate for truncus arteriosus surgery is 80% to 97%, according to the latest research. Survival depends on many factors, including the complexity of a baby’s heart anatomy.

• #38 Truncus Arteriosus > Fact Sheets > Yale Medicine

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

  Doctors surgically correct truncus arteriosus within the first few months of a babys life. A newborn may need medication (diuretics, digoxin, and ACE inhibitors) to manage the symptoms of heart failure before of surgery. […] The surgical correction of truncus arteriosus helps many patients lead normal lives. After surgery, more than 80% of patients live to age 20 or older.

• #39 Truncus Arteriosus | Boston Children’s Hospital

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

  Truncus arteriosus is a heart defect in which a single artery instead of two (truncus arteriosus) carries blood from the heart. Its a congenital condition, meaning a baby is born with it. […] The problem occurs at the midpoint of this time, when the aorta and the pulmonary artery dont divide to form two separate vessels, but rather remain as a single vessel. It isnt entirely clear what causes congenital heart malformations, including truncus arteriosus, although in most cases it appears that some combination of genetics and environmental factors is involved. […] A significant amount of the groundbreaking cardiac research currently being conducted at Boston Childrens aims to refine and advance the open-heart surgery and catheterization procedures that correct congenital heart defects in newborns and young children including truncus arteriosus.

• #40 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.

• #41 Truncus Arteriosus with Persistent Left Superior Vena Cava: Cardiac Computed Tomography Findings in an Unrepaired Adult Patient – Journal of Clinical Imaging Science

  https://clinicalimagingscience.org/truncus-arteriosus-with-persistent-left-superior-vena-cava-cardiac-computed-tomography-findings-in-an-unrepaired-adult-patient/

  Truncus arteriosus (TA), a rare complex congenital cardiac disease in which systemic pulmonary and coronary circulations originate from a common vessel, develops due to failure of separation of the common trunk during embryonic life. […] In TA, systemic pulmonary and coronary circulation originate from a single vessel that jointly emerges from the right and left ventricles by a truncal valve usually tricuspid, but quadricuspid and bicuspid valves have also been reported. […] The disorder is accompanied by interrupted aortic arch or aortic coarctation in 14% of cases. […] The primary imaging modalities for TA are echocardiography and conventional angiography. […] MRI and MDCT have an increasingly significant role in the non-invasive evaluation of complex congenital heart disease in the pre-operative period and post-operative follow-up.

• #42 Truncus Arteriosus with Persistent Left Superior Vena Cava: Cardiac Computed Tomography Findings in an Unrepaired Adult Patient – Journal of Clinical Imaging Science

  https://clinicalimagingscience.org/truncus-arteriosus-with-persistent-left-superior-vena-cava-cardiac-computed-tomography-findings-in-an-unrepaired-adult-patient/

  CT has been used in congenital heart disorders, but its clinical applicability is limited owing to low resolution of conventional CT. […] However, novel advances in CT technology have offered a non-invasive technique that allows accurate and rapid evaluation of cardiac and vascular structures with 3D imaging of the anatomy. […] The complex anatomy of TA in an adult patient was visualized in great detail using MD showing the vascular anomalies accompanying this pathology. […] ECG-gated cardiac MDCT is a useful tool to detect TA and accompanying vascular anomalies in both pediatric and adult cases.

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