Materiały źródłowe

• #1 Pulmonary Atresia With Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK562277/

  Pulmonary atresia with ventricular septal defect is a rare and complex congenital heart anomaly characterized by the underdevelopment or complete obstruction of the pulmonary valve, preventing blood flow from the right ventricle to the lungs. This condition is often associated with major aortopulmonary collateral arteries, which supply pulmonary circulation without a normal pulmonary artery. […] The incidence of congenital heart diseases is decreasing yearly due to the avoidance of known teratogens and risk factors through patient education and counseling. The incidence of pulmonary atresia is also decreasing. The prevalence of pulmonary atresia from 1999 to 2000 was 12.1% of all congenital heart diseases, which gradually decreased to 9.6% in 2008.

• #2 Partners in Care | Pulmonary Atresia With Ventricular Septal Defect…

  https://partnersincare.health/conditions/pulmonary-atresia-with-ventricular-septal-defect

  Pulmonary atresia (PA) is a congenital heart defect in which the one-way valve (pulmonary valve) between the right ventricle (responsible for pumping oxygen-poor blood through the pulmonary artery and to the lungs) and pulmonary artery (responsible for carrying blood to the lungs) does not develop at all. […] In the case of pulmonary atresia with ventricle septal defect (PA with VSA), a hole between the two pumping chambers of the heart (ventricular septal defect) is also present. […] Pulmonary atresia with ventricular septal defect occurs when a hole between the two pumping chambers of the heart (ventricular septal defect) is also present. […] PA with VSD can present in many different ways and is sometimes associated with major aortapulmonary collateral arteries (MAPCAs). […] Treatment options for children with PA with VSA is tailored to their unique anatomy.

• #3 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Pulmonary valve atresia is a structural heart anomaly characterized clinically by cyanosis and anatomically by an imperforate pulmonary valve that blocks the flow of blood through the right ventricular outflow tract completely. […] Two main forms must be distinguished, based on whether or not a ventricular septal defect is present. These two forms differ in presentation, epidemiology and risk factors. […] The overall birth prevalence of pulmonary atresia is estimated to be approximately 1 in 7500 births. The birth prevalence of pulmonary atresia with intact ventricular septum is approximately 1 in 15 000 live births (more frequent among stillbirths). […] Pulmonary atresia with ventricular septal defect can be associated with deletion 22q11, unlike the form with an intact ventricular septum.

• #4 Pulmonary atresia with ventricular septal defect – Wikipedia

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

  Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract. […] Frequency estimates vary between populations, estimates range from 0.01% to 0.2% of live births with PAVSD. It is believed to make up for 1-2% of cases of congenital heart defects worldwide. […] Without treatment, it is a highly life-threatening condition, so prognosis is poor. Life expectancy for untreated children with PAVSD is 10 years.

• #5 Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals | Abdominal Key

  https://abdominalkey.com/pulmonary-atresia-with-ventricular-septal-defect-and-major-aortopulmonary-collaterals/

  Pulmonary atresia (PA) with ventricular septal defect (VSD) and major aortopulmonary collaterals (MAPCAs) is a complex lesion with great morphologic variability that represents approximately 2 percent of congenital heart defects, with a prevalence of 0.07 per 1000 live births. […] PA with VSD represents approximately 2 percent of congenital heart defects. In the Baltimore-Washington Infant Study, a prevalence of 0.07 per 1000 live births was reported. […] Infants of overtly diabetic mothers are at approximately 10-fold risk of developing PA with VSD. Genetic factors are considered likely to be etiologically contributory, since an increased risk of occurrence to siblings (2.53 percent) or to children of parents with tetralogy of Fallot (1.28-3 percent) has been observed.

• #6 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #7 Pulmonary atresia with ventricular septal defect – Wikipedia

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

  Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract. […] Frequency estimates vary between populations, estimates range from 0.01% to 0.2% of live births with PAVSD. It is believed to make up for 1-2% of cases of congenital heart defects worldwide. […] Without treatment, it is a highly life-threatening condition, so prognosis is poor. Life expectancy for untreated children with PAVSD is 10 years.

• #8 Pulmonary Atresia With Ventricular Septal Defect – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562277/

  Pulmonary atresia with ventricular septal defect is a rare and complex congenital heart anomaly characterized by the underdevelopment or complete obstruction of the pulmonary valve, preventing blood flow from the right ventricle to the lungs. […] The incidence of congenital heart diseases is decreasing yearly due to the avoidance of known teratogens and risk factors through patient education and counseling. The incidence of pulmonary atresia is also decreasing. The prevalence of pulmonary atresia from 1999 to 2000 was 12.1% of all congenital heart diseases, which gradually decreased to 9.6% in 2008.

• #9 Pulmonary Atresia With Ventricular Septal Defect – MD Searchlight

  https://mdsearchlight.com/heart-health/pulmonary-atresia-with-ventricular-septal-defect/

  Congenital heart diseases are becoming less common each year. This is largely due to efforts in educating and advising patients to steer clear of known risk factors. The number of pulmonary atresia cases, a type of congenital heart disease, is also dropping. […] Pulmonary atresia with ventricular septal defect (PAVSD) can be detected in unborn babies at around 18 to 22 weeks of pregnancy through an ultrasound. However, if a mother doesnt get prenatal care or lacks access to proper healthcare services, PAVSD might not be discovered until the babys birth during a physical exam. […] Addressing low oxygen levels is a key medical treatment for newborns experiencing heart disorders, as is monitoring and adjusting any fluid imbalance or acidity in the body. […] Without proper surgical intervention, around half of patients do not survive past their first 2 years of life, and only around 10% live up to or beyond 20 years. However, with appropriate treatment and regular follow-up care, the outlook improves significantly. About 65% of patients who are alive one year after treatment can live past the age of 10.

• #10 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Pulmonary valve atresia is a structural heart anomaly characterized clinically by cyanosis and anatomically by an imperforate pulmonary valve that blocks the flow of blood through the right ventricular outflow tract completely. […] Two main forms must be distinguished, based on whether or not a ventricular septal defect is present. These two forms differ in presentation, epidemiology and risk factors. […] The overall birth prevalence of pulmonary atresia is estimated to be approximately 1 in 7500 births. The birth prevalence of pulmonary atresia with intact ventricular septum is approximately 1 in 15 000 live births (more frequent among stillbirths). […] Pulmonary atresia with ventricular septal defect can be associated with deletion 22q11, unlike the form with an intact ventricular septum.

• #11 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Pulmonary valve atresia is a structural heart anomaly characterized clinically by cyanosis and anatomically by an imperforate pulmonary valve that blocks the flow of blood through the right ventricular outflow tract completely. […] Two main forms must be distinguished, based on whether or not a ventricular septal defect is present. These two forms differ in presentation, epidemiology and risk factors. […] The overall birth prevalence of pulmonary atresia is estimated to be approximately 1 in 7500 births. The birth prevalence of pulmonary atresia with intact ventricular septum is approximately 1 in 15 000 live births (more frequent among stillbirths). […] Pulmonary atresia with ventricular septal defect can be associated with deletion 22q11, unlike the form with an intact ventricular septum.

• #12 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #13 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #14 Pulmonary atresia with ventricular septal defect – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia-ventricular-septum-defect/cdc-20396707

  Pulmonary atresia with ventricular septal defect, also called PA-VSD, is a heart condition present at birth. […] Pulmonary atresia with ventricular septal defect is life-threatening. A baby with pulmonary atresia eventually doesn’t get enough oxygen. One or more procedures or surgeries are needed to fix the heart. […] Pulmonary atresia with ventricular septal defect, also called PA-VSD, is typically found during pregnancy or soon after birth. […] The cause of pulmonary atresia with ventricular septal defect, also called PA-VSD, is not clear. […] It’s not clear what increases the risk of pulmonary atresia with ventricular septal defect. Possible risk factors for congenital heart conditions in general may include:

• #15 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #16 Pulmonary Atresia with Ventricular Septal Defect, and Right Ventricle-to-Pulmonary Artery Conduits | Thoracic Key

  https://thoracickey.com/pulmonary-atresia-with-ventricular-septal-defect-and-right-ventricle-to-pulmonary-artery-conduits/

  Pulmonary atresia with ventricular septal defect (PAVSD) is a congenital cardiac malformation characterized by discontinuity of blood flow from the right ventricle to the pulmonary arteries, a ventricular septal defect (VSD) resulting from anterior deviation of the infundibular (conal) septum, and an overriding aorta. Because it shares many attributes of tetralogy of Fallot (TOF), it is also referred to as TOF with pulmonary atresia. The incidence of PAVSD is estimated to be 1/10,000 live births. […] PAVSD is also associated with major aortopulmonary collaterals (MAPCAs) that, in some cases, are the sole supply of pulmonary blood flow. The morphology of the pulmonary circulation, which varies significantly among patients, determines the management and prognosis of this malformation. […] The most common associated genetic defect is a 22q11 microdeletion, found in up to 34% of patients with PAVSD, and up to 65% of patients with MAPCAs are found to have this abnormality.

• #17 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Pulmonary valve atresia is a structural heart anomaly characterized clinically by cyanosis and anatomically by an imperforate pulmonary valve that blocks the flow of blood through the right ventricular outflow tract completely. […] Two main forms must be distinguished, based on whether or not a ventricular septal defect is present. These two forms differ in presentation, epidemiology and risk factors. […] The overall birth prevalence of pulmonary atresia is estimated to be approximately 1 in 7500 births. The birth prevalence of pulmonary atresia with intact ventricular septum is approximately 1 in 15 000 live births (more frequent among stillbirths). […] Pulmonary atresia with ventricular septal defect can be associated with deletion 22q11, unlike the form with an intact ventricular septum.

• #18 BMS JOURNALS

  https://www.bhmedsoc.com/jbms/view-article.php?Article_Unique_Id=JBMS295

  Pulmonary atresia is a congenital heart defect that results from failure in the formation of the pulmonary valve that leads to right ventricular outflow obstruction, preventing the right heart ejection of blood to the lungs. It is also associated with a high incidence of chromosomal anomalies. […] The incidence of PA is approximately 0.15 per 1000 live births, and the incidence of PA in the Kingdom of Bahrain is lower at 0.04 per 1000 live births. […] Pulmonary atresia is a rare but serious congenital heart defect. The lowest short-term survival is in those with intact intraventricular septum. There is a high incidence of chromosomal deletion of 22q11 leading to DiGeorge syndrome in those with Tetralogy of Fallot with pulmonary atresia. Early catheterization and surgical techniques are effective palliation for short-term survival.

• #19 Pulmonary atresia: Types, causes, symptoms, and more

  https://www.medicalnewstoday.com/articles/pulmonary-atresia

  Pulmonary atresia is a congenital condition (a condition present at birth) that affects a newborns heart. It limits blood flow from the heart to the lungs. A baby with this condition may need surgery soon after birth. […] There are two types of pulmonary atresia: pulmonary atresia with an intact ventricular septum (PA-IVS) and pulmonary atresia with a ventricular septal defect (PAVSD). […] PAVSD occurs when a newborn has pulmonary atresia and has a hole in the ventricular septum. This allows blood to flow directly from the right ventricle into the left ventricle. […] Some research suggests that PAVSD may occur in 45% of children who have DiGeorge syndrome. DiGeorge syndrome is a congenital condition in which a baby is missing part of chromosome 22. […] The life expectancy of a child with pulmonary atresia may vary based on factors such as the severity of the condition and any additional complications.

• #20 Pulmonary Atresia With Ventricular Septal Defect | SCAI – Seconds Count

  https://www.secondscount.org/condition/pulmonary-atresia-ventricular-septal-defect

  Pulmonary atresia with ventricular septal defect (PA/VSD) occurs when theres a hole between the two bottom pumping chambers of the heart and theres no direct connection from the pumping chamber of the heart to the lung arteries. […] PA/VSD, along with tetralogy of Fallot, interrupted aortic arch (IAA), and truncus arteriosus may be associated with DiGeorge syndrome, which is a chromosomal abnormality caused by a missing section (deletion) of the 22nd chromosome. […] Initially after birth, an assessment must be made as to how blood is getting to the lungs. […] If MAPCAs exist, the options will be more complicated.

• #21 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #22 Pulmonary artery atresia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/pulmonary-artery-atresia?lang=us

  The estimated incidence is 1 in 10,000 births ref. […] pulmonary atresia with VSD (PA-VSD) is considered by some authors as a severe form of tetralogy of Fallot. […] pulmonary atresia is present in two-fifths of right isomerism cases 9.

• #23 Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals | Abdominal Key

  https://abdominalkey.com/pulmonary-atresia-with-ventricular-septal-defect-and-major-aortopulmonary-collaterals/

  Pulmonary atresia (PA) with ventricular septal defect (VSD) and major aortopulmonary collaterals (MAPCAs) is a complex lesion with great morphologic variability that represents approximately 2 percent of congenital heart defects, with a prevalence of 0.07 per 1000 live births. […] PA with VSD represents approximately 2 percent of congenital heart defects. In the Baltimore-Washington Infant Study, a prevalence of 0.07 per 1000 live births was reported. […] Infants of overtly diabetic mothers are at approximately 10-fold risk of developing PA with VSD. Genetic factors are considered likely to be etiologically contributory, since an increased risk of occurrence to siblings (2.53 percent) or to children of parents with tetralogy of Fallot (1.28-3 percent) has been observed.

• #24 Pulmonary atresia with ventricular septal defect: systematic review – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA366169426&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=1995705X&p=HRCA&sw=w

  Pulmonary atresia with ventricular septal defect (PA-VSD) is synonymous with Tetralogy of Fallot-pulmonary atresia and this defect may be considered as an extreme form of classic Tetralogy of Fallot. […] Baltimore-Washington Infant Study recorded 4390 infants with cardiovascular malformations from 1981 – 1989. Of this, 296 (6.7%) were reported to be Tetralogy of Fallot. Sixty of 296 (20%) infants in the Tetralogy group were Tet-PA. Tet-PA accounted for 1.4% of all forms of congenital heart disease and 0.07 per 100 live births. […] Genetic, environmental, and familial factors play a causative role in etiology of PA-VSD and therefore it remains multifactorial in nature. […] A ten-fold higher incidence of PA-VSD has been reported in infants of diabetic mothers compared to non-diabetic mothers and the incidence is 20-fold higher if diabetes was severe enough to need treatment with insulin.

• #25 Pulmonary atresia with ventricular septal defect – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia-ventricular-septum-defect/cdc-20396707

  Pulmonary atresia with ventricular septal defect, also called PA-VSD, is a heart condition present at birth. […] Pulmonary atresia with ventricular septal defect is life-threatening. A baby with pulmonary atresia eventually doesn’t get enough oxygen. One or more procedures or surgeries are needed to fix the heart. […] Pulmonary atresia with ventricular septal defect, also called PA-VSD, is typically found during pregnancy or soon after birth. […] The cause of pulmonary atresia with ventricular septal defect, also called PA-VSD, is not clear. […] It’s not clear what increases the risk of pulmonary atresia with ventricular septal defect. Possible risk factors for congenital heart conditions in general may include:

• #26 Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals | Abdominal Key

  https://abdominalkey.com/pulmonary-atresia-with-ventricular-septal-defect-and-major-aortopulmonary-collaterals/

  Pulmonary atresia (PA) with ventricular septal defect (VSD) and major aortopulmonary collaterals (MAPCAs) is a complex lesion with great morphologic variability that represents approximately 2 percent of congenital heart defects, with a prevalence of 0.07 per 1000 live births. […] PA with VSD represents approximately 2 percent of congenital heart defects. In the Baltimore-Washington Infant Study, a prevalence of 0.07 per 1000 live births was reported. […] Infants of overtly diabetic mothers are at approximately 10-fold risk of developing PA with VSD. Genetic factors are considered likely to be etiologically contributory, since an increased risk of occurrence to siblings (2.53 percent) or to children of parents with tetralogy of Fallot (1.28-3 percent) has been observed.

• #27 Pulmonary artesia with ventricular septal defect

  https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/heart/pulmonary-artesia-with-ventricular-septal-defect.html

  Pulmonary Atresia with Ventricular Septal Defect (PA-VSD) is a complex congenital heart defect (CHD). It occurs in less than 1 in 10,000 fetuses. […] PA-VSD is diagnosed when pulmonary atresia and VSD occur together. […] There appears to be a genetic component in PA-VSD, however in many cases no specific cause can be found. […] There is an increased risk of PA-VSD in siblings of a previous child with this defect, and in the children of individuals with a heart condition called Tetralogy of Fallot. […] In PA-VSD, blood flow from the right ventricle to the pulmonary artery is blocked, so blood is not pumped to the lungs, and a mixture of oxygen-rich and oxygen-poor blood flows out through the VSD to the aorta. […] PA-VSD is treated with cardiac surgery with a goal of creating a channel between the right ventricle and the pulmonary artery and closing the VSD. […] It appears that there is a genetic component to PA-VSD. As mentioned, if a child suffered from PA-VSD, their siblings will be at a greater risk than the general population.

• #28 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Some surveillance programmes group together pulmonary valve stenosis (Q22.1) and atresia (Q22.0). This is not recommended. […] Pulmonary atresia with ventricular septal defect is in most cases a conotruncal defect and should be grouped with tetralogy of Fallot and not with pulmonary atresia with intact ventricular septum. […] Track and evaluate cases of pulmonic atresia (Q22.0) with ventricular septal defect (Q21.0). A very low proportion of such cases compared to pulmonary atresia without a ventricular septal defect suggests that ventricular septal defects are either missed or not coded. […] Track proportion of congenital anomalies and syndromes occurring with pulmonary atresia. The expectation is that the proportion is higher for pulmonary atresia with ventricular septal defect compared to pulmonary atresia without ventricular septal defect. […] Monitor separately the prevalence of pulmonary atresia with and without ventricular septal defect. If larger monitoring groups are necessary, consider grouping pulmonary atresia with ventricular septal defect with tetralogy of Fallot (part of the same spectrum).

• #29 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Some surveillance programmes group together pulmonary valve stenosis (Q22.1) and atresia (Q22.0). This is not recommended. […] Pulmonary atresia with ventricular septal defect is in most cases a conotruncal defect and should be grouped with tetralogy of Fallot and not with pulmonary atresia with intact ventricular septum. […] Track and evaluate cases of pulmonic atresia (Q22.0) with ventricular septal defect (Q21.0). A very low proportion of such cases compared to pulmonary atresia without a ventricular septal defect suggests that ventricular septal defects are either missed or not coded. […] Track proportion of congenital anomalies and syndromes occurring with pulmonary atresia. The expectation is that the proportion is higher for pulmonary atresia with ventricular septal defect compared to pulmonary atresia without ventricular septal defect. […] Monitor separately the prevalence of pulmonary atresia with and without ventricular septal defect. If larger monitoring groups are necessary, consider grouping pulmonary atresia with ventricular septal defect with tetralogy of Fallot (part of the same spectrum).

• #30 About Pulmonary Atresia | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/pulmonary-atresia.html

  Pulmonary atresia can also be detected with newborn pulse oximetry screening. Low levels of oxygen in the blood can be a sign of a critical CHD like pulmonary atresia. […] Most babies with pulmonary atresia will need routine checkups with a heart doctor. A heart doctor will monitor a baby’s progress and check for other health conditions that might develop as they get older.

• #31 Pulmonary Atresia With Ventricular Septal Defect – MD Searchlight

  https://mdsearchlight.com/heart-health/pulmonary-atresia-with-ventricular-septal-defect/

  Congenital heart diseases are becoming less common each year. This is largely due to efforts in educating and advising patients to steer clear of known risk factors. The number of pulmonary atresia cases, a type of congenital heart disease, is also dropping. […] Pulmonary atresia with ventricular septal defect (PAVSD) can be detected in unborn babies at around 18 to 22 weeks of pregnancy through an ultrasound. However, if a mother doesnt get prenatal care or lacks access to proper healthcare services, PAVSD might not be discovered until the babys birth during a physical exam. […] Addressing low oxygen levels is a key medical treatment for newborns experiencing heart disorders, as is monitoring and adjusting any fluid imbalance or acidity in the body. […] Without proper surgical intervention, around half of patients do not survive past their first 2 years of life, and only around 10% live up to or beyond 20 years. However, with appropriate treatment and regular follow-up care, the outlook improves significantly. About 65% of patients who are alive one year after treatment can live past the age of 10.

• #32 Pulmonary Atresia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/pulmonary-atresia/

  Pulmonary atresia (pronounced PULL-mun-airy ah-TREE-sha) is a very rare, complex birth defect of the pulmonary valve. […] Most babies with pulmonary atresia show symptoms during the first few hours after birth. They may be diagnosed after having a pulse oximetry screening in their birth hospital when they are about a day old. […] Doctors can diagnose pulmonary atresia when a baby is in the womb using a fetal echocardiogram (fetal echo). […] To diagnose this condition, your child’s doctor will examine your baby and use a stethoscope to listen to their heart. […] Your child’s doctor will suggest some procedures and treatments right away to improve your baby’s blood flow. […] Sometimes babies with pulmonary atresia will need a heart transplant. […] Children with pulmonary atresia receive compassionate, comprehensive care through Seattle Children’s Heart Center.

• #33 Pulmonary Atresia (PA) | Causes, Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/patients/child/encyclopedia/defects/pa

  Pulmonary atresia occurs in about one out of every 10,000 live births. […] This heart defect may also be diagnosed on fetal echocardiograms. It is one of the cardiac defects that may be found on screening ultrasounds. Early diagnosis of the defect allows for prompt intervention at the time of birth. […] Planning to deliver an infant at a hospital capable of newborn resuscitation is important in improving the chances for a good outcome.

• #34 Pulmonary Atresia with Intact Ventricular Septum (IVS) | Texas Children’s

  https://www.texaschildrens.org/content/conditions/pulmonary-atresia-with-intact-ventricular-septum-ivs

  Pulmonary atresia with intact ventricular septum is a rare congenital heart defect. It occurs at a rate of less than one per 10,000 live births. […] Pulmonary atresia with intact ventricular septum can be detected during pregnancy through a routine fetal echocardiogram (ultrasound of the fetal heart). A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the specialized treatment and cardiac expertise your baby will need at birth, optimizing outcomes. […] Babies born with pulmonary atresia with intact ventricular septum require lifelong monitoring by cardiologists experienced in the treatment of congenital heart defects.

• #35 Pulmonary Atresia: Symptoms, Causes and Treatment

  https://my.clevelandclinic.org/health/diseases/14779-pulmonary-atresia

  Pulmonary atresia occurs in about one out of 10,000 live births. […] Genetic factors, such as an abnormal gene or chromosomal defect, may increase the chances of heart defects in certain families. Some children with genetic disorders like DiGeorges syndrome or velocardiofacial syndrome may be at greater risk for pulmonary atresia. […] Without having surgery to fix pulmonary atresia with a ventricular septal defect, the survival rate is 50% at age 1 and 8% at 10 years of age. Most people don’t live into their 30s without surgery.

• #36 Midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries – Mainwaring – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/33245/html

  Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries (PA/VSD/MAPCAs) is a relatively rare and extremely heterogeneous form of congenital heart disease. […] The natural history of PA/VSD/MAPCAs is quite poor, with 10- and 20-year survival estimated at 50% and 20%, respectively. […] The introduction of the midline unifocalization approach represented a paradigm shift in the treatment of PA/VSD/MAPCAs. […] More than 75% of patients born with PA/VSD/MAPCAs are candidates for a midline unifocalization strategy. […] The mid-line unifocalization approach is our choice for patients with predominantly single-supply MAPCAs and was used in the preponderance (80%) of the patients. […] It is our belief that the long-term outcomes for PA/VSD/MAPCAs will be determined by two factors; specifically, (I) the number of patients achieving complete repair, and (II) the achievement of low right ventricular pressures.

• #37 Pulmonary atresia with ventricular septal defect – Wikipedia

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

  Pulmonary atresia with ventricular septal defect is a rare birth defect characterized by pulmonary valve atresia occurring alongside a defect on the right ventricular outflow tract. […] Frequency estimates vary between populations, estimates range from 0.01% to 0.2% of live births with PAVSD. It is believed to make up for 1-2% of cases of congenital heart defects worldwide. […] Without treatment, it is a highly life-threatening condition, so prognosis is poor. Life expectancy for untreated children with PAVSD is 10 years.

• #38 Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand | Scientific Reports

  https://www.nature.com/articles/s41598-020-61879-2

  Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). […] Data about the outcomes in developing countries is scarce. […] The present study evaluates survival rates and mortality risks of children who were diagnosed with PA/VSD at Siriraj Hospital in the last decade. […] In a median follow-up time of 5.7 years (7 days-13.7 years), 17 patients died from any cause in addition to their severe cardiac pathophysiology, accounting for a mortality rate of 18.9%. Overall survival rates of PA/VSD at 1, 5, and 10 years of age, were 95%, 83.7%, and 79.6%, respectively. […] The significant predictors of death were the presence of associated anomalies and non-confluent PAs. […] Overall survival rates for PA/VSD at 1, 5, and 10 years of age were 95%, 83.7%, and 79.6%, respectively.

• #39 Pulmonary atresia: Types, causes, symptoms, and more

  https://www.medicalnewstoday.com/articles/pulmonary-atresia

  In a 2020 study, researchers looked at the survival rates of 88 children who received surgery for PAVSD. They found that after surgical treatments, the children had the following survival rates: 95% at the age of 1 year, 83.7% at the age of 5 years, 79.6% at the age of 10 years. […] There is no cure for pulmonary atresia, but treatments are available that may help a person manage the condition.

• #40 Pulmonary Atresia: Overview, Causes, Treatment

  https://www.healthline.com/health/pulmonary-atresia

  Pulmonary atresia with ventricular septal defect (PA-VSD): Theres a hole in the wall between the ventricles, allowing some blood to flow into the right ventricle. This can help the right ventricle develop better, but it still has difficulty pumping blood to the lungs. […] A study of 107 infants with PA-VSD who underwent surgery between 1989 and 2019 found that most (85%) had a complete repair at around 1 year old. Survival rates were 90% at 6 months, 85% at 20 months, and 81% at 10 years after surgery. […] In a study of 88 children who received a diagnosis of PA-VSD, survival rates were strong over the past decade: 95% at 1 year, 83.7% at 5 years, and 79.6% at 10 years. […] Another study of 171 children with pulmonary atresia and intact ventricular septum, a rarer form, showed improved 1-year survival from 76% to 92% between 19801998 and 19992016, respectively. […] With modern medical and surgical advancements, most infants born with pulmonary atresia now survive into adulthood. The exact survival rate varies, but overall, there has been a significant improvement in survival rates in recent years.

• #41 Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand | Scientific Reports

  https://www.nature.com/articles/s41598-020-61879-2

  Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). […] Data about the outcomes in developing countries is scarce. […] The present study evaluates survival rates and mortality risks of children who were diagnosed with PA/VSD at Siriraj Hospital in the last decade. […] In a median follow-up time of 5.7 years (7 days-13.7 years), 17 patients died from any cause in addition to their severe cardiac pathophysiology, accounting for a mortality rate of 18.9%. Overall survival rates of PA/VSD at 1, 5, and 10 years of age, were 95%, 83.7%, and 79.6%, respectively. […] The significant predictors of death were the presence of associated anomalies and non-confluent PAs. […] Overall survival rates for PA/VSD at 1, 5, and 10 years of age were 95%, 83.7%, and 79.6%, respectively.

• #42 Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand | Scientific Reports

  https://www.nature.com/articles/s41598-020-61879-2

  Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). […] Data about the outcomes in developing countries is scarce. […] The present study evaluates survival rates and mortality risks of children who were diagnosed with PA/VSD at Siriraj Hospital in the last decade. […] In a median follow-up time of 5.7 years (7 days-13.7 years), 17 patients died from any cause in addition to their severe cardiac pathophysiology, accounting for a mortality rate of 18.9%. Overall survival rates of PA/VSD at 1, 5, and 10 years of age, were 95%, 83.7%, and 79.6%, respectively. […] The significant predictors of death were the presence of associated anomalies and non-confluent PAs. […] Overall survival rates for PA/VSD at 1, 5, and 10 years of age were 95%, 83.7%, and 79.6%, respectively.

• #43 Outcomes of Rehabilitation Strategies for Pulmonary Atresia with Ventricular Septal Defect: A Single Center’s Experience

  https://www.imrpress.com/journal/RCM/25/3/10.31083/j.rcm2503084

  Outcomes of Rehabilitation Strategies for Pulmonary Atresia with Ventricular Septal Defect: A Single Center’s Experience […] A total of 109 PA/VSD patients undergoing initial rehabilitative surgery at Guangdong Provincial People’s Hospital from 2010 to 2020 were enrolled in this study. […] The RV-PA connection technique resulted in a significantly higher PaO2, lower red blood cells (RBC), lower hemoglobin, and lower hematocrit (Hct) (p < 0.05). [...] The cumulative incidence curve estimated a cumulative complete repair rate of 56 ± 7% after 5 years in the RV-PA connection group, significantly higher than 36 ± 7% after 5 years in the systemic-to-pulmonary shunt group (p < 0.05). [...] The RV-PA connection was identified as an independent predictor for complete repair in the multivariable analysis (HR = 2.348, 95% CI = 1.131–4.873). [...] The RV-PA connection is a more ideal initial rehabilitative technique than systemic-to-pulmonary shunt in treating PA/VSD as a consequence of comparable probability of survival but improved definitive complete repair rate.

• #44 Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand | Scientific Reports

  https://www.nature.com/articles/s41598-020-61879-2

  Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). […] Data about the outcomes in developing countries is scarce. […] The present study evaluates survival rates and mortality risks of children who were diagnosed with PA/VSD at Siriraj Hospital in the last decade. […] In a median follow-up time of 5.7 years (7 days-13.7 years), 17 patients died from any cause in addition to their severe cardiac pathophysiology, accounting for a mortality rate of 18.9%. Overall survival rates of PA/VSD at 1, 5, and 10 years of age, were 95%, 83.7%, and 79.6%, respectively. […] The significant predictors of death were the presence of associated anomalies and non-confluent PAs. […] Overall survival rates for PA/VSD at 1, 5, and 10 years of age were 95%, 83.7%, and 79.6%, respectively.

• #45 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Some surveillance programmes group together pulmonary valve stenosis (Q22.1) and atresia (Q22.0). This is not recommended. […] Pulmonary atresia with ventricular septal defect is in most cases a conotruncal defect and should be grouped with tetralogy of Fallot and not with pulmonary atresia with intact ventricular septum. […] Track and evaluate cases of pulmonic atresia (Q22.0) with ventricular septal defect (Q21.0). A very low proportion of such cases compared to pulmonary atresia without a ventricular septal defect suggests that ventricular septal defects are either missed or not coded. […] Track proportion of congenital anomalies and syndromes occurring with pulmonary atresia. The expectation is that the proportion is higher for pulmonary atresia with ventricular septal defect compared to pulmonary atresia without ventricular septal defect. […] Monitor separately the prevalence of pulmonary atresia with and without ventricular septal defect. If larger monitoring groups are necessary, consider grouping pulmonary atresia with ventricular septal defect with tetralogy of Fallot (part of the same spectrum).

• #46 4.5 Pulmonary Valve Atresia (Q22.0) | CDC

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

  Some surveillance programmes group together pulmonary valve stenosis (Q22.1) and atresia (Q22.0). This is not recommended. […] Pulmonary atresia with ventricular septal defect is in most cases a conotruncal defect and should be grouped with tetralogy of Fallot and not with pulmonary atresia with intact ventricular septum. […] Track and evaluate cases of pulmonic atresia (Q22.0) with ventricular septal defect (Q21.0). A very low proportion of such cases compared to pulmonary atresia without a ventricular septal defect suggests that ventricular septal defects are either missed or not coded. […] Track proportion of congenital anomalies and syndromes occurring with pulmonary atresia. The expectation is that the proportion is higher for pulmonary atresia with ventricular septal defect compared to pulmonary atresia without ventricular septal defect. […] Monitor separately the prevalence of pulmonary atresia with and without ventricular septal defect. If larger monitoring groups are necessary, consider grouping pulmonary atresia with ventricular septal defect with tetralogy of Fallot (part of the same spectrum).

• #47 Orphanet: Pulmonary atresia with ventricular septal defect

  https://www.orpha.net/en/disease/detail/1207

  Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. […] Prevalence: – […] Inheritance: – […] Age of onset: […] ICD-10: Q25.5 […] ICD-11: LA88.21 […] OMIM: 178370 […] UMLS: C0344976 […] MeSH: C562833 […] GARD: 4588

• #48 About Pulmonary Atresia | Congenital Heart Defects (CHDs) | CDC

  https://www.cdc.gov/heart-defects/about/pulmonary-atresia.html

  Pulmonary atresia can also be detected with newborn pulse oximetry screening. Low levels of oxygen in the blood can be a sign of a critical CHD like pulmonary atresia. […] Most babies with pulmonary atresia will need routine checkups with a heart doctor. A heart doctor will monitor a baby’s progress and check for other health conditions that might develop as they get older.

• #49 Pulmonary Atresia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/pulmonary-atresia/

  If your developing baby is diagnosed with pulmonary atresia before birth, our Seattle Children’s Fetal Care and Treatment Center team works closely with you and your family to plan and prepare for any care your baby may need. […] We have a special Adult Congenital Heart Disease Program to meet your child’s long-term healthcare needs.

• #50 Conditions – Leeds Congenital Hearts

  https://leedscongenitalhearts.com/child/conditions/view/2/51/pulmonary-atresia-with-ventricular-septal-defect

  Even major surgery later in life cannot make the heart completely normal and it is very unlikely that any child with pulmonary atresia and VSD will have a normal lifespan. […] Some babies with pulmonary atresia and VSD will have other abnormalities. The commonest of these is a genetic abnormality, where a small part of one chromosome is missing. […] All heart operations in babies are serious and will carry some risk of the baby dying or having major complications such as brain damage, kidney damage or lung complications such as pneumonia. […] All children with pulmonary atresia and VSD who have had a shunt operation as a baby will need further treatment when they are older. […] Even many years after apparently successful surgery new problems may arise which require treatment. One of the late problems is the development of abnormal heart rhythms. […] Most children with major heart disease cannot manage as much physical exercise as other children. […] All patients with pulmonary atresia and VSD will be at risk of infection in the heart (called endocarditis), both before and after surgery.

• #51 Conditions – Leeds Congenital Hearts

  https://leedscongenitalhearts.com/teen/conditions/view/3/36/pulmonary-atresia-with-ventricular-septal-defect

  All heart operations in babies are serious and will carry some risk of the baby dying or having major complications such as brain damage, kidney damage or lung complications such as pneumonia. […] All children with pulmonary atresia and VSD who have had a shunt operation as a baby will need further treatment when they are older. […] Even many years after apparently successful surgery new problems may arise which require treatment. […] All patients with pulmonary atresia and VSD will be at risk of infection in the heart (called endocarditis), both before and after surgery.

• #52 Facts about Pulmonary Atresia | Congenital Heart Defects | NCBDDD | CDC

  http://med.iiab.me/modules/en-cdc/www.cdc.gov/ncbddd/heartdefects/pulmonaryatresia.html

  In a 2012 study using data from birth defects tracking systems across the United States, researchers estimated that about 1 out of every 10,000 babies is born with pulmonary atresia. […] Pulmonary atresia may be diagnosed during pregnancy or soon after a baby is born. […] Pulmonary atresia is a critical congenital heart defect (critical CHD) that may be detected with newborn screening using pulse oximetry (also known as pulse ox). […] Most babies with pulmonary atresia will need regular follow-up visits with a cardiologist (a heart doctor) to monitor their progress and check for other health conditions that might develop as they get older.

• #53 Pulmonary atresia with a ventricular septal defect and left pulmonary artery discontinuity: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02750-4

  Prenatal detection is important because it aids in the prompt initiation of PGE1 administration to ensure early rehabilitation of the affected lung. […] UPAD is relatively rare, but when undetected, it could affect neonatal prognosis. Therefore, clinicians should examine the route of both pulmonary arteries, regardless of the existence of other intracardiac abnormalities.

• #54 Pulmonary Atresia With Ventricular Septal Defect – MD Searchlight

  https://mdsearchlight.com/heart-health/pulmonary-atresia-with-ventricular-septal-defect/

  In addition to the complications related to surgery and anesthesia, there are other complications associated with PAVSD. These include: Congestive heart failure (CHF) when your heart cant pump enough blood to meet your bodys needs, Reactive erythrocytosis where your body makes too many red blood cells in response to prolonged lack of sufficient oxygen, Infective endocarditis an infection caused by irregular blood flow, Sepsis a life-threatening condition that arises when your bodys response to an infection injures its tissues and organs. […] Its crucial that parents of children with congenital heart diseases (birth defects that affect the structure of the heart) understand their childs condition. This is because these heart issues are generally serious and often require several surgeries to fix the abnormal parts.

• #55 Pulmonary Atresia Surgery | Norton Children’s

  https://nortonchildrens.com/services/cardiology/conditions/treatments/surgical/pulmonary-atresia-treatment/

  After pulmonary atresia surgery, the child will need to see a pediatric cardiologist regularly. The child may need future surgeries. This will depend on several factors, including right ventricle size and any other defects present. A full two-ventricle repair can be done if the right ventricle is big enough. […] Another option is following the single-ventricle pathway with staged surgeries to separate the oxygenated arterial circulation from the deoxygenated venous circulation. Two more surgeries — the Glenn procedure and Fontan procedure — allow blood to flow through the lungs to pick up oxygen so that it can then be distributed throughout the body. […] The board-certified and fellowship-trained specialists at Norton Children’s Heart Institute can identify the best surgical options for your child with pulmonary atresia.

Zobacz więcej