Materiały źródłowe

• #1 Truncus Arteriosus – StatPearls – NCBI Bookshelf

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

  Truncus arteriosus has an annual incidence of 7 per 100,000 live births. While the condition accounts for less than 1% of all congenital heart lesions, truncus arteriosus accounts for approximately 4% of critical congenital heart defects. […] With improved survival rates, comprehensive care for congenital heart disease must address transition challenges, including medical, psychosocial, and lifestyle considerations. Truncus arteriosus significantly affects mental health due to its impact on several organ systems and requirement for continuous medical care from a young age.

• #2 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #2 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/351490-overview

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period.

• #3 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

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

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

  Persistent truncus arteriosus accounts for about 1% of congenital heart anomalies and 4% of critical congenital heart defects. […] Diagnosis is suspected clinically, supported by chest x-ray and ECG, and established by 2-dimensional echocardiography with color flow and Doppler studies. […] Surgical mortality rates are as low as 10%.

• #5 Truncus Arteriosus – StatPearls – NCBI Bookshelf

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

  Truncus arteriosus has an annual incidence of 7 per 100,000 live births. While the condition accounts for less than 1% of all congenital heart lesions, truncus arteriosus accounts for approximately 4% of critical congenital heart defects. […] With improved survival rates, comprehensive care for congenital heart disease must address transition challenges, including medical, psychosocial, and lifestyle considerations. Truncus arteriosus significantly affects mental health due to its impact on several organ systems and requirement for continuous medical care from a young age.

• #6 Truncus Arteriosus | Concise Medical Knowledge

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

  Incidence is 515 per 100,000 live births. […] 0.7% of all forms of congenital heart defects in live-born infants. […] 4% of critical congenital heart disease.

• #7 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #8 Persistent truncus arteriosus epidemiology and demographics – wikidoc

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

  It represents 1-2% of congenital heart disease in newborns. It occurs in approximately 5-15 per 100000 live births […] Slight male predominance is seen.

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

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

  Truncus arteriosus occurs in 1 out of every 15,984 live births. It can occur by itself or as part of certain genetic disorders. There are about 230 cases of truncus arteriosus per year in the United States. […] A person born with truncus arteriosus will need regular follow-up visits with a cardiologist (a heart doctor). These visits will help monitor their progress and avoid complications or other health problems.

• #10 Truncus Arteriosus | Riley Children’s Health

  https://www.rileychildrens.org/health-info/truncus-arteriosus

  The Centers for Disease Control and Prevention estimate that 300 babies are born each year in the United States with a rare, congenital heart defect known as truncus arteriosus. […] Truncus arteriosus can be diagnosed prenatally by a routine prenatal ultrasound or fetal echocardiogram. […] Many states (including Indiana) require testing (pulse oximeter screening) of all newborn babies for low oxygen levels before discharge from the newborn nursery. Failing this test sometimes leads to a diagnosis of truncus arteriosus.

• #11 Orphanet: Common arterial trunk

  https://www.orpha.net/en/disease/detail/3384

  Prevalence ranges from 0.03 to 0.056 per 1,000 live births. In Europe, the average recorded prevalence is 1/10,000 births (including livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis). No striking difference in frequency is observed between the sexes, although most series contain more males than females. […] In the last 10 to 15 years there have been clinically significant improvements in treatment with early repair. It is now recommended that TA is repaired in the neonatal period and morbidity and mortality are as low as 5% in selected series.

• #12 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #13 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  No significant difference in the incidence of truncus arteriosus is noted among those born in the United States compared with other countries (1-4% of congenital heart conditions). […] However, a Canadian longitudinal study (1983-2010) of all individual with congenital heart disease noted a more than 50% increase of severe and other congenital heart disease after the year 2000, with adults comprising two thirds of the cases by 2010. The prevalence of congenital heart disease in the first year of life between 1998 and 2005 was 8.21 per 1000 live births; in 2010, the overall prevalence was 13.11 per 1000 in children and 6.12 per 1000 in adults. A temporal increase in prevalence of congenital heart disease and severe congenital heart disease was noted for children and adults. […] In a German retrospective study (2019-2024) of truncus arteriosus diagnosed prenatally at a local tertial referral center, 11 of 14 neonates survived to birth, of whom 7 had postnatal confirmation and underwent surgery, with an overall 55% survival. When the investigators performed a literature review, they noted there were 576 prenatal diagnoses of truncus arteriosus and 247 postnatal diagnoses, as well as 27% of tested cases demonstrated a 22q11 deletion.

• #14 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/351490-overview

  No significant difference in the incidence of truncus arteriosus is noted among those born in the United States compared with other countries (1-4% of congenital heart conditions. […] However, a Canadian longitudinal study (1983-2010) of all individual with congenital heart disease noted a more than 50% increase of severe and other congenital heart disease after the year 2000, with adults comprising two thirds of the cases by 2010. […] In a German retrospective study (2019-2024) of truncus arteriosus diagnosed prenatally at a local tertial referral center, 11 of 14 neonates survived to birth, of whom 7 had postnatal confirmation and underwent surgery, with an overall 55% survival. […] Based on limited data, no racial predilection is apparent. […] Although many series report a slight male predominance, no significant predilection based on sex is apparent.

• #15 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  No significant difference in the incidence of truncus arteriosus is noted among those born in the United States compared with other countries (1-4% of congenital heart conditions). […] However, a Canadian longitudinal study (1983-2010) of all individual with congenital heart disease noted a more than 50% increase of severe and other congenital heart disease after the year 2000, with adults comprising two thirds of the cases by 2010. The prevalence of congenital heart disease in the first year of life between 1998 and 2005 was 8.21 per 1000 live births; in 2010, the overall prevalence was 13.11 per 1000 in children and 6.12 per 1000 in adults. A temporal increase in prevalence of congenital heart disease and severe congenital heart disease was noted for children and adults. […] In a German retrospective study (2019-2024) of truncus arteriosus diagnosed prenatally at a local tertial referral center, 11 of 14 neonates survived to birth, of whom 7 had postnatal confirmation and underwent surgery, with an overall 55% survival. When the investigators performed a literature review, they noted there were 576 prenatal diagnoses of truncus arteriosus and 247 postnatal diagnoses, as well as 27% of tested cases demonstrated a 22q11 deletion.

• #16 High prevalence of truncus arteriosus in pediatric congenital heart disease in Uganda

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6521674/

  Over half of the deaths due to congenital heart disease (CHD) occur in the neonatal period, and majority of the children with unrepaired complex heart lesions do not live to celebrate their first birthday. […] Unrepaired CHD is a major cause of heart failure among children in Africa. […] Whereas other regions report lower prevalence of 2.4% of the cases of CHD, truncus arteriosus marginally followed tetralogy of Fallot at 5%. Mean age at the diagnosis was 5 months of the 165 children with a female preponderance. This is probably due to a selection bias in our setting because other critical lesions are unrecognized at birth and demise in the neonatal period before referral to UHI, giving a spuriously high number of cases of persistent truncus arteriosus. […] This brief report highlights an unusual occurrence of truncus arteriosus among Ugandan children with CHD, and we presume a genetic predisposition that warrants further research.

• #17 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  Based on limited data, no racial predilection is apparent. […] Although many series report a slight male predominance, no significant predilection based on sex is apparent. […] Truncus arteriosus is a congenital anomaly that is present from early in embryonic gestation. Currently, truncus arteriosus is diagnosed using prenatal ultrasonography in a small percentage of patients. Among patients diagnosed after birth, the median age at presentation is generally a few days, which is significantly earlier than was the case 20 or more years ago. Occasionally, patients are not diagnosed until later in infancy, childhood, or even adulthood, although such cases are exceedingly rare in the United States and Europe.

• #18 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/351490-overview

  No significant difference in the incidence of truncus arteriosus is noted among those born in the United States compared with other countries (1-4% of congenital heart conditions. […] However, a Canadian longitudinal study (1983-2010) of all individual with congenital heart disease noted a more than 50% increase of severe and other congenital heart disease after the year 2000, with adults comprising two thirds of the cases by 2010. […] In a German retrospective study (2019-2024) of truncus arteriosus diagnosed prenatally at a local tertial referral center, 11 of 14 neonates survived to birth, of whom 7 had postnatal confirmation and underwent surgery, with an overall 55% survival. […] Based on limited data, no racial predilection is apparent. […] Although many series report a slight male predominance, no significant predilection based on sex is apparent.

• #19 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  Based on limited data, no racial predilection is apparent. […] Although many series report a slight male predominance, no significant predilection based on sex is apparent. […] Truncus arteriosus is a congenital anomaly that is present from early in embryonic gestation. Currently, truncus arteriosus is diagnosed using prenatal ultrasonography in a small percentage of patients. Among patients diagnosed after birth, the median age at presentation is generally a few days, which is significantly earlier than was the case 20 or more years ago. Occasionally, patients are not diagnosed until later in infancy, childhood, or even adulthood, although such cases are exceedingly rare in the United States and Europe.

• #20 Truncus Arteriosus – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/truncus-arteriosus/

  Truncus arteriosus is a rare, complex form of congenital heart disease (CHD), accounting for about 1 percent of CHD. It is slightly more common in males. […] There are some adults who are undiagnosed and/or have unrepaired truncus arteriosus. They do not do as well as those who are repaired. They are at high risk for pulmonary hypertension and Eisenmenger syndrome. […] While there are some adults with unrepaired truncus arteriosus, many of the problems that adults face are the result of complications of the repair itself and the underlying CHD. While uncorrected patients do not do well, patients who have had a primary repair generally do very well. […] Most issues that adults develop are the result of complications from their primary surgery. These include: Truncal stenosis or regurgitation, Stenosis or regurgitation of the right ventricle to pulmonary artery conduit(s), Ventricular dysfunction, Arrhythmias or irregular heartbeats, Pulmonary hypertension or high blood pressure in the lungs, if untreated or if there was late repair. […] According to the American Heart Association and the American College of Cardiology, Truncus Arteriosus is a highly complex heart defect. This means that experts recommend that you receive care from an ACHD specialist throughout your life, even if you are feeling fine.

• #21 Persistent truncus arteriosus epidemiology and demographics – wikidoc

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

  It represents 1-2% of congenital heart disease in newborns. It occurs in approximately 5-15 per 100000 live births […] Slight male predominance is seen.

• #22 High prevalence of truncus arteriosus in pediatric congenital heart disease in Uganda

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6521674/

  Over half of the deaths due to congenital heart disease (CHD) occur in the neonatal period, and majority of the children with unrepaired complex heart lesions do not live to celebrate their first birthday. […] Unrepaired CHD is a major cause of heart failure among children in Africa. […] Whereas other regions report lower prevalence of 2.4% of the cases of CHD, truncus arteriosus marginally followed tetralogy of Fallot at 5%. Mean age at the diagnosis was 5 months of the 165 children with a female preponderance. This is probably due to a selection bias in our setting because other critical lesions are unrecognized at birth and demise in the neonatal period before referral to UHI, giving a spuriously high number of cases of persistent truncus arteriosus. […] This brief report highlights an unusual occurrence of truncus arteriosus among Ugandan children with CHD, and we presume a genetic predisposition that warrants further research.

• #23 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. […] Approximately 50% of newborns with truncus arteriosus have associated genetic disorder, most commonly the chromosome 22q11.2 deletion syndrome (~20% of the cases). […] Fetal Surveillance: Assess truncal valve function for worsening regurgitation or evidence of stenosis, Assess the growth of branch pulmonary arteries, Assess flow across the ventricular septal defect, If there is a concern for severe coarctation of the aorta or IAA (Van Praagh Type A4, it is important to monitor flow in the ductus arteriosus.

• #24 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. […] Approximately 50% of newborns with truncus arteriosus have associated genetic disorder, most commonly the chromosome 22q11.2 deletion syndrome (~20% of the cases). […] Fetal Surveillance: Assess truncal valve function for worsening regurgitation or evidence of stenosis, Assess the growth of branch pulmonary arteries, Assess flow across the ventricular septal defect, If there is a concern for severe coarctation of the aorta or IAA (Van Praagh Type A4, it is important to monitor flow in the ductus arteriosus.

• #25 Truncus Arteriosus | Radiology Key

  https://radiologykey.com/truncus-arteriosus/

  Truncus arteriosus occurs in 1% to 2% of infants born with congenital heart defects, or about 10 cases per 100,000 live births. Among conotruncal anomalies, truncus arteriosus has a similar rate of occurrence as congenitally corrected transposition of the great arteries and double outlet right ventricle, but it is three times less common than complete transposition of the great arteries and four times less common than tetralogy of Fallot. […] Of patients with truncus arteriosus, 34% to 41% harbor a chromosome 22q11 deletion. This deletion is also seen in a large proportion of patients with conotruncal developmental anomalies as found in DiGeorge syndrome, velocardiofacial syndrome, and interrupted aortic arch, suggesting the importance of this gene in the regulation of the embryologic development of the conotruncus.

• #26 Truncus Arteriosus | Thoracic Key

  https://thoracickey.com/truncus-arteriosus-8/

  Truncus arteriosus is an uncommon congenital cardiac malformation that accounts for 1% to 4% of the cardiac malformations found in large autopsy series and 0.6 to 1.4 per 10,000 live births. […] It has been reported in monozygotic and dizygotic twins, siblings, and relatives of children with the defect. There is a strong association with chromosome 22q11 abnormalities, especially in the setting of interrupted aortic arch. However, additional disease genes are likely involved since the 22q11.2 microdeletion syndrome is only observed in approximately 30% of patients with truncus arteriosus.

• #27 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  No significant difference in the incidence of truncus arteriosus is noted among those born in the United States compared with other countries (1-4% of congenital heart conditions). […] However, a Canadian longitudinal study (1983-2010) of all individual with congenital heart disease noted a more than 50% increase of severe and other congenital heart disease after the year 2000, with adults comprising two thirds of the cases by 2010. The prevalence of congenital heart disease in the first year of life between 1998 and 2005 was 8.21 per 1000 live births; in 2010, the overall prevalence was 13.11 per 1000 in children and 6.12 per 1000 in adults. A temporal increase in prevalence of congenital heart disease and severe congenital heart disease was noted for children and adults. […] In a German retrospective study (2019-2024) of truncus arteriosus diagnosed prenatally at a local tertial referral center, 11 of 14 neonates survived to birth, of whom 7 had postnatal confirmation and underwent surgery, with an overall 55% survival. When the investigators performed a literature review, they noted there were 576 prenatal diagnoses of truncus arteriosus and 247 postnatal diagnoses, as well as 27% of tested cases demonstrated a 22q11 deletion.

• #28 Truncus Arteriosus | Radiology Key

  https://radiologykey.com/truncus-arteriosus/

  Genetic screening is important because 22q11 deletion is inherited in an autosomal dominant fashion from one parent in 6% to 28% of cases. This is important information for genetic family counseling. Knowledge of this deletion also heightens clinical suspicions for associated anomalies, including athymia, hypocalcemia, and nasopalatal malformation. Truncus arteriosus is also associated with trisomy 8 and chromosomal 10p deletion.

• #29 Truncus Arteriosus | Radiology Key

  https://radiologykey.com/truncus-arteriosus/

  Genetic screening is important because 22q11 deletion is inherited in an autosomal dominant fashion from one parent in 6% to 28% of cases. This is important information for genetic family counseling. Knowledge of this deletion also heightens clinical suspicions for associated anomalies, including athymia, hypocalcemia, and nasopalatal malformation. Truncus arteriosus is also associated with trisomy 8 and chromosomal 10p deletion.

• #30 Truncus Arteriosus | Radiology Key

  https://radiologykey.com/truncus-arteriosus/

  Genetic screening is important because 22q11 deletion is inherited in an autosomal dominant fashion from one parent in 6% to 28% of cases. This is important information for genetic family counseling. Knowledge of this deletion also heightens clinical suspicions for associated anomalies, including athymia, hypocalcemia, and nasopalatal malformation. Truncus arteriosus is also associated with trisomy 8 and chromosomal 10p deletion.

• #31 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #32 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #33 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  An estimated incidence of 7 cases of truncus arteriosus occurs per 100,000 live births each year, comprising less than 1% of all congenital heart diseases but about 4% of critical congenital heart defects. […] Truncus arteriosus represents 1-2% of congenital heart defects in liveborn infants. Based on an estimated incidence of congenital heart disease of 6-8 per 1,000 liveborn children, truncus arteriosus occurs in approximately 5-15 of 100,000 live births. Among aborted fetuses and stillborn infants with cardiovascular anomalies, truncus arteriosus represents almost 5% of defects. […] A population-based review of all cases of live births from 1999 to 2008 identified as having severe congenital heart disease from the Nationwide Inpatient Sample (NIS) database indicated a decrease of the conditions over the study period. There was a significant decreased incidence of truncus arteriosus as well as tetralogy of Fallot, pulmonary atresia, and hypoplastic left heart syndrome; however, these trends varied with sociodemographic factors. The investigators suggested a possible reason for the decreasing prevalence trend was the increased numbers of terminated fetuses with prenatally diagnosed congenital heart disease.

• #34 Diagnosis, Management and Outcome of Truncus Arteriosus Communis Diagnosed during Fetal Life—Cohort Study and Systematic Literature Review

  https://www.mdpi.com/2077-0383/13/20/6143

  Truncus arteriosus communis (TAC) is a rare congenital heart defect characterized by a single arterial trunk that supplies systemic, pulmonary, and coronary circulations. This defect, constituting approximately 1–4% of congenital heart diseases, poses significant challenges in prenatal diagnosis, management, and postnatal outcomes. […] The prenatal diagnosis of TAC is crucial for optimal perinatal management. Advances in fetal echocardiography have significantly enhanced the ability to detect truncus arteriosus in utero and also allow the differentiation of its subtypes. […] The surgical outcomes for TAC have improved significantly with advances in cardiopulmonary bypass techniques, perioperative care, and postoperative management. However, the condition remains associated with considerable risks, including perioperative mortality, late mortality predominately during the first year of life, and residual cardiac lesions.

• #35 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. […] Approximately 50% of newborns with truncus arteriosus have associated genetic disorder, most commonly the chromosome 22q11.2 deletion syndrome (~20% of the cases). […] Fetal Surveillance: Assess truncal valve function for worsening regurgitation or evidence of stenosis, Assess the growth of branch pulmonary arteries, Assess flow across the ventricular septal defect, If there is a concern for severe coarctation of the aorta or IAA (Van Praagh Type A4, it is important to monitor flow in the ductus arteriosus.

• #36 Truncus Arteriosus: Background, Pathophysiology, Etiology

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

  Based on limited data, no racial predilection is apparent. […] Although many series report a slight male predominance, no significant predilection based on sex is apparent. […] Truncus arteriosus is a congenital anomaly that is present from early in embryonic gestation. Currently, truncus arteriosus is diagnosed using prenatal ultrasonography in a small percentage of patients. Among patients diagnosed after birth, the median age at presentation is generally a few days, which is significantly earlier than was the case 20 or more years ago. Occasionally, patients are not diagnosed until later in infancy, childhood, or even adulthood, although such cases are exceedingly rare in the United States and Europe.

• #37 Truncus Arteriosus: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/351490-overview

  Truncus arteriosus is a congenital anomaly that is present from early in embryonic gestation. Currently, truncus arteriosus is diagnosed using prenatal ultrasonography in a small percentage of patients. Among patients diagnosed after birth, the median age at presentation is generally a few days, which is significantly earlier than was the case 20 or more years ago. Occasionally, patients are not diagnosed until later in infancy, childhood, or even adulthood, although such cases are exceedingly rare in the United States and Europe.

• #38 Truncus Arteriosus | Riley Children’s Health

  https://www.rileychildrens.org/health-info/truncus-arteriosus

  The Centers for Disease Control and Prevention estimate that 300 babies are born each year in the United States with a rare, congenital heart defect known as truncus arteriosus. […] Truncus arteriosus can be diagnosed prenatally by a routine prenatal ultrasound or fetal echocardiogram. […] Many states (including Indiana) require testing (pulse oximeter screening) of all newborn babies for low oxygen levels before discharge from the newborn nursery. Failing this test sometimes leads to a diagnosis of truncus arteriosus.

• #39 Surgical repair for persistent truncus arteriosus in neonates and older children | Journal of Cardiothoracic Surgery | Full Text

  https://cardiothoracicsurgery.biomedcentral.com/articles/10.1186/s13019-020-01114-1

  Persistent truncus arteriosus represents less than 3% of all congenital heart defects. […] The Society of Thoracic Surgeons Congenital Heart Surgery Database reported surgical mortality of 9.2% in children and 10.8% in neonates after TA repair. […] The mortality beyond surgical hospitalization was reported to range from 2 to 15%, according to single-center studies that followed patients for 224 years after surgery. […] Without surgical intervention, 80% of these patients die within the first year of life, mainly during early infancy. […] Repair of the truncus arteriosus can be performed safely with low morbidity and mortality, both in neonates, infants, and older children. […] Re-intervention is common, preferably through a transcatheter approach.

• #40 Truncus Arteriosus > Fact Sheets > Yale Medicine

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

  Truncus arteriosus is a rare condition. About 250 babies are born in the United States each year with this birth defect. Fewer than 1% of all congenital (present at birth) heart defects are truncus arteriosus. […] Truncus arteriosus is a life-threatening condition. More than 70% of babies born with this birth defect who do not undergo surgery will die in the first year of life. […] 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. […] Patients will need to have their heart monitored by a cardiologist regularly for the rest of their lives.

• #41 Surgical repair for persistent truncus arteriosus in neonates and older children | Journal of Cardiothoracic Surgery | Full Text

  https://cardiothoracicsurgery.biomedcentral.com/articles/10.1186/s13019-020-01114-1

  Persistent truncus arteriosus represents less than 3% of all congenital heart defects. […] The Society of Thoracic Surgeons Congenital Heart Surgery Database reported surgical mortality of 9.2% in children and 10.8% in neonates after TA repair. […] The mortality beyond surgical hospitalization was reported to range from 2 to 15%, according to single-center studies that followed patients for 224 years after surgery. […] Without surgical intervention, 80% of these patients die within the first year of life, mainly during early infancy. […] Repair of the truncus arteriosus can be performed safely with low morbidity and mortality, both in neonates, infants, and older children. […] Re-intervention is common, preferably through a transcatheter approach.

• #42 Truncus Arteriosus – Don’t Forget the Bubbles

  https://dontforgetthebubbles.com/picu-truncus-arteriosus/

  Prevalence 3% in CHD. […] Incidence 5-15:100.000. […] Perioperative mortality: 10%. […] Long term survival after 5, 10, 15 years: 90%, 85%, 83%.

• #43 Truncus Arteriosus: Symptoms & Treatment

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

  About 1 in 15,984 babies born in the U.S. have truncus arteriosus. Its rare compared to other congenital heart defects. Of all babies diagnosed with a heart issue, around 2% have truncus arteriosus. […] 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 babys heart anatomy. […] About 75% of babies who have surgical repair are alive 20 years later. Most deaths occur within one year of repair. About 92.5% of babies who survive to one year after surgery are alive at 20 years.

• #44 Truncus Arteriosus – Don’t Forget the Bubbles

  https://dontforgetthebubbles.com/picu-truncus-arteriosus/

  Prevalence 3% in CHD. […] Incidence 5-15:100.000. […] Perioperative mortality: 10%. […] Long term survival after 5, 10, 15 years: 90%, 85%, 83%.

• #45 Truncus Arteriosus: Symptoms & Treatment

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

  About 1 in 15,984 babies born in the U.S. have truncus arteriosus. Its rare compared to other congenital heart defects. Of all babies diagnosed with a heart issue, around 2% have truncus arteriosus. […] 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 babys heart anatomy. […] About 75% of babies who have surgical repair are alive 20 years later. Most deaths occur within one year of repair. About 92.5% of babies who survive to one year after surgery are alive at 20 years.

• #46 Truncus Arteriosus: Symptoms & Treatment

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

  About 1 in 15,984 babies born in the U.S. have truncus arteriosus. Its rare compared to other congenital heart defects. Of all babies diagnosed with a heart issue, around 2% have truncus arteriosus. […] 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 babys heart anatomy. […] About 75% of babies who have surgical repair are alive 20 years later. Most deaths occur within one year of repair. About 92.5% of babies who survive to one year after surgery are alive at 20 years.

• #47 Orphanet: Common arterial trunk

  https://www.orpha.net/en/disease/detail/3384

  Prevalence ranges from 0.03 to 0.056 per 1,000 live births. In Europe, the average recorded prevalence is 1/10,000 births (including livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis). No striking difference in frequency is observed between the sexes, although most series contain more males than females. […] In the last 10 to 15 years there have been clinically significant improvements in treatment with early repair. It is now recommended that TA is repaired in the neonatal period and morbidity and mortality are as low as 5% in selected series.

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

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

  Truncus arteriosus occurs in 1 out of every 15,984 live births. It can occur by itself or as part of certain genetic disorders. There are about 230 cases of truncus arteriosus per year in the United States. […] A person born with truncus arteriosus will need regular follow-up visits with a cardiologist (a heart doctor). These visits will help monitor their progress and avoid complications or other health problems.

• #49 Truncus Arteriosus > Fact Sheets > Yale Medicine

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

  Truncus arteriosus is a rare condition. About 250 babies are born in the United States each year with this birth defect. Fewer than 1% of all congenital (present at birth) heart defects are truncus arteriosus. […] Truncus arteriosus is a life-threatening condition. More than 70% of babies born with this birth defect who do not undergo surgery will die in the first year of life. […] 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. […] Patients will need to have their heart monitored by a cardiologist regularly for the rest of their lives.

• #50 Truncus Arteriosus – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/truncus-arteriosus/

  Truncus arteriosus is a rare, complex form of congenital heart disease (CHD), accounting for about 1 percent of CHD. It is slightly more common in males. […] There are some adults who are undiagnosed and/or have unrepaired truncus arteriosus. They do not do as well as those who are repaired. They are at high risk for pulmonary hypertension and Eisenmenger syndrome. […] While there are some adults with unrepaired truncus arteriosus, many of the problems that adults face are the result of complications of the repair itself and the underlying CHD. While uncorrected patients do not do well, patients who have had a primary repair generally do very well. […] Most issues that adults develop are the result of complications from their primary surgery. These include: Truncal stenosis or regurgitation, Stenosis or regurgitation of the right ventricle to pulmonary artery conduit(s), Ventricular dysfunction, Arrhythmias or irregular heartbeats, Pulmonary hypertension or high blood pressure in the lungs, if untreated or if there was late repair. […] According to the American Heart Association and the American College of Cardiology, Truncus Arteriosus is a highly complex heart defect. This means that experts recommend that you receive care from an ACHD specialist throughout your life, even if you are feeling fine.

• #51 Truncus Arteriosus – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/truncus-arteriosus/

  Truncus arteriosus is a rare, complex form of congenital heart disease (CHD), accounting for about 1 percent of CHD. It is slightly more common in males. […] There are some adults who are undiagnosed and/or have unrepaired truncus arteriosus. They do not do as well as those who are repaired. They are at high risk for pulmonary hypertension and Eisenmenger syndrome. […] While there are some adults with unrepaired truncus arteriosus, many of the problems that adults face are the result of complications of the repair itself and the underlying CHD. While uncorrected patients do not do well, patients who have had a primary repair generally do very well. […] Most issues that adults develop are the result of complications from their primary surgery. These include: Truncal stenosis or regurgitation, Stenosis or regurgitation of the right ventricle to pulmonary artery conduit(s), Ventricular dysfunction, Arrhythmias or irregular heartbeats, Pulmonary hypertension or high blood pressure in the lungs, if untreated or if there was late repair. […] According to the American Heart Association and the American College of Cardiology, Truncus Arteriosus is a highly complex heart defect. This means that experts recommend that you receive care from an ACHD specialist throughout your life, even if you are feeling fine.

• #52 4.5b Common Truncus (Q20.0) | NCBDDD | CDC

  https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-5b.html

  Common truncus is included among the conotruncal heart anomalies, together with tetralogy of Fallot, interrupted aortic arch type B, and d-transposition of the great arteries. Common truncus can occur in association with genetic conditions especially deletion 22q11 and can be familial. […] The birth prevalence of common truncus is approximately is 0.5 to 1 in 10 000 births. […] Monitor prevalence: If low ( 0.3 per 10 000 births) suggests under-ascertainment.

• #53 Persistent truncus arteriosus – Wikipedia

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

  Persistent truncus arteriosus is a rare cardiac abnormality that has a prevalence of less than 1%. […] For the International Classification of Diseases (ICD-11), the International Paediatric and Congenital Cardiac Code (IPCCC) was developed to standardize the nomenclature of congenital heart disease.

• #54 Truncus Arteriosus – StatPearls – NCBI Bookshelf

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

  Truncus arteriosus has an annual incidence of 7 per 100,000 live births. While the condition accounts for less than 1% of all congenital heart lesions, truncus arteriosus accounts for approximately 4% of critical congenital heart defects. […] With improved survival rates, comprehensive care for congenital heart disease must address transition challenges, including medical, psychosocial, and lifestyle considerations. Truncus arteriosus significantly affects mental health due to its impact on several organ systems and requirement for continuous medical care from a young age.

• #55 Diagnosis, Management and Outcome of Truncus Arteriosus Communis Diagnosed during Fetal Life—Cohort Study and Systematic Literature Review

  https://www.mdpi.com/2077-0383/13/20/6143

  The purpose of this study was to review the diagnosis, management, and outcome of local TAC cases as well as published case series to determine the accuracy of prenatal imaging in reaching a correct diagnosis and detecting the presence of associated anomalies. […] Advances in prenatal imaging and early diagnosis have enhanced the management of TAC, allowing for the detailed planning of delivery and immediate postnatal care in specialized centers. The frequent association with genetic syndromes underscores the importance of genetic counseling in managing TAC. An early surgical intervention remains crucial for improving long-term outcomes, although the condition is still associated with significant risks. Long-term follow-up studies are essential to monitor potential complications and guide future management strategies. Overall, a coordinated multidisciplinary approach from prenatal diagnosis to postnatal care is essential for improving outcomes for individuals with TAC.

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