Materiały źródłowe

• #1 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 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). […] Some surveillance programmes group together pulmonary valve stenosis (Q22.1) and atresia (Q22.0). This is not recommended. […] 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).

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

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

  Pulmonary atresia is a congenital heart defect. Congenital means present at birth. […] About 1 in every 6,708 babies in the United States are born with pulmonary atresia. This means that about 548 babies in the United States are born with pulmonary atresia each year. […] 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.

• #3 Pulmonary Atresia | Boston Children’s Hospital

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

  Pulmonary atresia is a life-threatening condition, affecting one out of every 10,000 newborns. […] Most babies with pulmonary atresia are diagnosed shortly after birth. […] In some cases, it is diagnosed before birth by a prenatal ultrasound.

• #4 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.

• #5 Pulmonary Atresia | Texas Children’s

  https://www.texaschildrens.org/content/conditions/pulmonary-atresia

  Pulmonary atresia occurs during the first eight weeks of pregnancy when the fetal heart fails to develop correctly. The cause is typically unknown. […] The Centers for Disease Control and Prevention (CDC) estimates that about 1 in every 7,100 babies born each year in the United States are born with pulmonary atresia. […] If pulmonary atresia is detected during pregnancy, prompt referral to a fetal cardiac center is important for further evaluation and proper treatment planning. […] Delivery should take place at a center with the highest quality congenital heart program, ensuring the expertise and resources required at birth to treat babies with pulmonary atresia, including an advanced neonatal and cardiovascular intensive care unit (NICU and CICU). […] Babies born with pulmonary atresia require life-long monitoring by cardiologists experienced in the treatment of congenital heart defects.

• #6 Pulmonary atresia with intact ventricular septum epidemiology and outcome in children born in Sweden 1980-1999

  https://gupea.ub.gu.se/handle/2077/10019

  Aims: To describe children born with pulmonary atresia with intact ventricular septum (PA-IVS) in Sweden between 1980 and 1999, the incidence and outcome of PA-IVS, to examine cardio-pulmonary outcomes in survivors and to evaluate their quality of life. […] The incidence was 4.2/100, 000 live births. […] PA-IVS is an unusual and heterogeneous congenital heart defect associated with high mortality during the first years of life. […] Membranous pulmonary atresia was associated with a better outcome than muscular pulmonary atresia with respect to survival, myocardial perfusion defects and exercise capacity. […] Overall quality of life was good.

• #7 Pulmonary Atresia with Intact Ventricular Septum (PA-IVS): Definition, Diagnosis, and Treatment

  https://angolodeldottorino.it/en/Medicine/Cardiology/Congenital_Heart_Diseases/Pulmonary_Atresia_with_Intact_Ventricular_Septum_(PA-IVS).php

  Pulmonary atresia with an intact ventricular septum has an estimated incidence of about 4-5 cases per 100,000 live births, accounting for approximately 1-3% of all congenital heart defects. […] There is no significant sex predilection. […] However, it is frequently associated with coronary anomalies, such as coronary artery fistulae connecting to the right ventricle or coronary circulation dependent on a hypoplastic right ventricle, which influence prognosis and treatment.

• #8 Survival With Respect to Morphology in Pulmonary Atresia and Intact Ventricular Septum in Sweden – PubMed

  https://pubmed.ncbi.nlm.nih.gov/33407024/

  Patients born with pulmonary atresia and intact ventricular septum represent a challenge to pediatric cardiologists. Our objective was to study changes in survival with respect to morphology in all children born with pulmonary atresia and intact ventricular septum in Sweden during 36 years. The cohort consists of 171 patients (early group, n = 86 and late group, n = 85) yielding an incidence of 4.35 and 4.46 per 100,000 live births, respectively. One-year survival in the early group was 76% compared to 92% in the late group (P= .0004). The incidence of pulmonary atresia and intact ventricular septum remained unchanged during the study period. Survival has improved, especially for patients with membranous pulmonary atresia, while being born with muscular pulmonary atresia is still a risk factor for death. […] To further improve survival, greater focus on patients with muscular pulmonary atresia and ventriculocoronary arterial communications is required.

• #9

  https://omim.org/entry/265150

  Pulmonary atresia with intact ventricular septum accounts for less than 3% of all congenital heart defects (Grossfeld et al., 1997). […] Grossfeld et al. (1997) suggested autosomal dominant inheritance with incomplete penetrance. […] De Stefano et al. (2008) reported monozygotic twin sisters with pulmonary valve atresia and intact ventricular septum.

• #10 Pulmonary Atresia with Intact Ventricular Septum (PA/IVS) | Pediatric Echocardiography

  https://pedecho.org/library/chd/pa-ivs

  Pulmonary atresia with intact ventricular septum (PA/IVS) is characterized by atresia of the pulmonary valve. […] PA/IVS is found in about 6 to 8.3 in 100,000 live births. This number is thought to be an underestimation due to the frequency of fetal or in utero termination.

• #11 Pulmonary atresia with ventricular septal defect – Wikipedia

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

  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. […] Of all patients with PAVSD, around 25-32% of them have a microdeletion of the 22q11.2 chromosome.

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

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

  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. […] PAVSD is a rare disease that presents with a wide variety of clinical signs and symptoms that overlap with other congenital anomalies. Patients may initially present with vague symptoms like feeding difficulty and lethargy. A final diagnosis requires a comprehensive evaluation, with consultation from departments like pediatric cardiology, pediatric surgery, and geneticists. History and physical exam are usually insufficient for diagnosis, and further investigations are required. PAVSD is a rare condition that requires prompt referral to pediatric cardiologists when echocardiographic or computed tomography/magnetic resonance imaging scans reveal cardiac defects. Radiologists play a vital role in identifying the underlying defect. Having pediatric surgeons involved in the plan and assessment is vital.

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

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

  Pulmonary atresia with a ventricular septal defect (PAVSD) is a type of heart disease present at birth that can cause a blue or purple tinge to the skin (cyanosis). […] The number of pulmonary atresia cases, a type of congenital heart disease, is also dropping. […] Between 1999 and 2000, pulmonary atresia accounted for 12.1% of all congenital heart diseases. This percentage decreased to 9.6% by 2008. […] 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. […] An institution that frequently carries out these procedures estimates the risk of death related to the surgery to be between 1.5% and 8%, depending on the specific operation performed.

• #14 Pulmonary atresia with intact ventricular septum – Overview – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia-intact-ventricular-septum/cdc-20396714

  Pulmonary atresia with intact ventricular septum, also called PA/IVS, is a rare heart condition that’s present at birth. […] Pulmonary atresia with intact ventricular septum, also called PA/IVS, is often found during pregnancy or soon after birth. […] The cause of pulmonary atresia with intact ventricular septum, also called PA/IVS, is not clear. […] What increases the risk of pulmonary atresia with intact ventricular septum, also called PA/IVS, is not well known. […] Pulmonary atresia with intact ventricular septum, also called PA/IVS, can be diagnosed before birth with an ultrasound during a routine pregnancy screening. […] After treatment, babies with pulmonary atresia with intact ventricular septum, also called PA/IVS, should have regular health checkups with a heart doctor trained to treat children.

• #15 Pulmonary atresia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/pulmonary-atresia?content_id=CON-20155225

  Pulmonary atresia is most often found soon after birth. […] The cause of pulmonary atresia is not clear. […] Pulmonary atresia happens as the baby’s heart is forming during pregnancy. […] Without treatment, pulmonary atresia most often leads to death. […] After surgery for pulmonary atresia, babies need regular health checkups throughout their lives to watch for complications. […] Pulmonary atresia is usually diagnosed soon after birth.

• #16

  https://www.pted.org/?id=pulmonaryatresia1

  Pulmonary Atresia is a rare defect, occurring with equal frequency in boys and girls, and is related to the congenital heart defect known as Tetralogy of Fallot. […] It develops during the first 8 weeks of pregnancy from unknown causes.

• #17 Pulmonary Atresia And Pulmonary Stenosis

  https://www.pediatriconcall.com/articles/pediatric-cardiology/pulmonary-atresia-and-pulmonary-stenosis/pulmonary-atresia-and-pulmonary-stenosis-introduction

  Pulmonary atresia (PA) is hypoplasia and complete closure of the outflow part of the right ventricle and/or pulmonary artery and the crucial factor for the primary presentation and prognosis is the existence or non-existence of patent ductus arteriosis (PDA). […] The incidence of obstructive congenital defects of the pulmonary artery among other congenital heart defects is about 7-10%. […] Genetic, environmental, and familial factors are included in the multifactorial etiology of pulmonary atresia and stenosis. […] Authors report that a mild pulmonary stenosis pressure gradient in children above 1 year of age will not increase with time and that there is even a possibility to decrease, while in other groups of patients with severe stenosis pressure gradient actually increases. The most important is adequate follow-up and well-timed clinical management of these patients, in the individual estimated time intervals based mostly on pressure gradient and clinical manifestations.

• #18 Pulmonary atresia // Middlesex Health

  https://middlesexhealth.org/learning-center/diseases-and-conditions/pulmonary-atresia

  Pulmonary atresia is most often found soon after birth. […] Pulmonary atresia happens as the baby’s heart is forming during pregnancy. Certain health conditions or illicit drug use during pregnancy may increase a baby’s risk of pulmonary atresia or other congenital heart defects. […] Without treatment, pulmonary atresia most often leads to death. After surgery for pulmonary atresia, babies need regular health checkups throughout their lives to watch for complications. […] Pulmonary atresia is usually diagnosed soon after birth. Tests are done to check the baby’s heart health.

• #19

  https://link.springer.com/article/10.1007/s00246-021-02805-9

  Gestational viral infection has been associated with congenital heart disease (CHD). […] Our results suggest a possible association between gestational CVB exposure and specific CHD, particularly pulmonary valve anomalies and coronary sinusoids. […] Among these, 30.8% of babies presented pulmonary valve anomalies: 19.2% (5/26) pulmonary atresia, and 11.5% (3/26) pulmonary stenosis.

• #20 Pulmonary Atresia with intact ventricular septum | Little Hearts Matter

  https://www.lhm.org.uk/pulmonary-atresia/

  Pulmonary Atresia with intact ventricular septum is a congenital heart condition (a problem that a baby is born with). […] Heart conditions that affect the blood flow to the lungs occur in 1 in 6,000 babies. […] Congenital heart conditions occur in 1 in 130 pregnancies. If you have previously had a child with a single ventricle heart condition the risk of it happening again rises to between 5 and 8%.

• #21 Pulmonary atresia epidemiology and demographics – wikidoc

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

  The incidence of Pulmonary atresia subtype Intact VSD is approximately 4-8 per 100,000 individuals worldwide. […] Overall, the estimated frequency of Pulmonary atresia among all congenital heart disease is 1-3 %. […] While there is no difference in the incidence of Pulmonary atresia in males or females, it is found that pulmonary atresia with VSD ( PA-VSD ) is slightly more prevalent in males compared to females. […] Pulmonary atresia is exclusively a congenital disease and is diagnosed either prenatally or immediately after birth. […] It is found that pulmonary atresia with VSD ( PA-VSD ) is slightly more prevalent in males compared to females.

• #22 Tricuspid Atresia: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/158359-overview

  Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 1.03 per 10,000 live births. […] An estimated 404 babies are born with tricuspid atresia each year in the United States. […] No racial predilection is apparent. […] Considering all forms of tricuspid atresia, no sexual predilection exists. Males present more frequently with transposed great vessels than females. […] The anomaly is congenital and is evident at birth.

• #23 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.

• #24 Pulmonary Atresia: Overview, Causes, Treatment

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

  The outlook for people with pulmonary atresia, a congenital heart defect that blocks blood flow to the lungs, has significantly improved with recent medical advancements. […] The success rates of surgery for pulmonary atresia depend on various factors, including the specific type of pulmonary atresia, the presence of other heart irregularities, and the overall health of the infant. […] 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.

• #25 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. […] To the best of our knowledge, this is the first retrospective cohort study reporting survival of children with PA/VSD in developing countries.

• #26 Single Ventricle Defects | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/single-ventricle-defects

  In pulmonary atresia no pulmonary valve exists. Blood can’t flow from the right ventricle into the pulmonary artery and on to the lungs. The right ventricle and tricuspid valve are often poorly developed. […] Children with pulmonary atresia need regular follow-up with a pediatric cardiologist and, once they reach adulthood, lifelong regular follow-up with a cardiologist who’s had special training in congenital heart defects. Some children may need medicines, heart catheterization or additional surgery. […] Children with pulmonary atresia are at increased risk for developing endocarditis. Ask your pediatric cardiologist about your child’s need to take antibiotics before certain dental procedures to help prevent endocarditis.

• #27 Tricuspid Atresia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tricuspid-atresia

  Tricuspid atresia is a congenital heart defect, occurring in two out of every 10,000 live births. Relatively rare, it accounts for about 1 to 2 percent of all cases of congenital heart disease. […] Surgical techniques for tricuspid atresia and its associated defects are continually being refined with long-term outcomes continually improving. Nevertheless, children with tricuspid atresia will need lifelong monitoring and medication, since they will always be at some risk for arrhythmias, infections, heart failure, or stroke. […] Research shows the vital importance of a Home Monitoring Program, including daily at-home assessments of oxygen saturations and weight between the stage I (neonatal) and stage II (bi-directional Glenn) surgeries. We have a very experienced Home Monitoring Program to provide these special babies and their families the support that they need.

• #28 Pulmonary Atresia – Tiny Tickers

  https://www.tinytickers.org/support-info/what-is-chd/pulmonary-atresia/

  Pulmonary atresia can be detected at the 20 week anatomy scan or after birth by echocardiogram. This is a condition that can be picked up by oxygen saturation checks before discharge from the maternity hospital. If it is not picked up in the antenatal period, once the baby is born they will display the following signs: […] Babies and children with pulmonary atresia will need lifelong follow-up. Whenever tubes are used for repairs, they will always require changing, usually before the 10th birthday and some children may need another intervention during adolescence or adulthood. This tube replacement could be a valve insertion in the catheter lab or possibly another open heart surgery. […] They will need repeat tests like echocardiogram, ECG and sometimes cardiac Magnetic Resonance Imaging (MRI) scans. The aim of these tests is to monitor your child’s heart function so that any future heart problems are diagnosed and treated quickly.

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