Materiały źródłowe

• #1 Pulmonary Atresia With Intact Ventricular Septum – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK546666/?report=reader

  Pulmonary atresia with intact ventricular septum is a rare congenital heart disease comprising less than 1% of all heart defects, characterized by membranous or muscular atresia of the right ventricular outflow tract without any ventricular communication, often involving underdevelopment of the right ventricle and tricuspid valve. […] Genetic research highlights that heterotaxy and right ventricular outflow tract obstruction are highly heritable congenital heart disease forms, but the precise cause of PA-IVS remains unknown. Theories suggest that potential causes may include issues with pulmonary valve development, tricuspid valve flow restriction, or coronary artery anomalies. […] Some theories postulated to explain the pathogenesis of this disorder include a primary insult to the pulmonary valve, leading to an atretic valve; an abnormal venous valve that limits flow through the tricuspid valve into the right ventricle; or abnormal coronary arterial development as a result.

• #2 Pulmonary Atresia With Intact Ventricular Septum | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/28009

  Pulmonary atresia with intact ventricular septum (PA-IVS) is characterized by membranous or muscular atresia of the right ventricular outflow tract without any ventricular communication, often involving underdevelopment of the right ventricle and tricuspid valve. […] Genetic research highlights that heterotaxy and right ventricular outflow tract obstruction are highly heritable congenital heart disease forms, but the precise cause of PA-IVS remains unknown. Theories suggest that potential causes may include issues with pulmonary valve development, tricuspid valve flow restriction, or coronary artery anomalies. […] Research indicates that heterotaxy and right ventricular outflow tract obstruction are the most heritable forms of congenital heart disease. For right ventricular outflow tract obstruction, the recurrence risk in first-degree relatives is 48.6%, compared to 12.9% for left ventricular outflow tract obstructive defects and 11.7% for conotruncal defects. […] Some theories postulated to explain the pathogenesis of this disorder include a primary insult to the pulmonary valve, leading to an atretic valve; an abnormal venous valve that limits flow through the tricuspid valve into the right ventricle; or abnormal coronary arterial development as a result.

• #3 An insight into pulmonary atresia with intact ventricular septum – FCV

  https://www.fcv.org/co/en/editorial-fcv/articulos-editorial/an-insight-into-pulmonary-atresia-with-intact-ventricular-septum

  Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare congenital heart disease, comprising less than 1% of all congenital heart defects globally. […] Genetic research has provided valuable insights into the underlying causes of PA-IVS. While the specific genetic mechanisms remain elusive, studies suggest a strong hereditary component for right ventricular outflow tract obstruction and related congenital heart defects.

• #4 Pulmonary atresia with intact ventricular septum (PA/IVS) – UpToDate

  https://www.uptodate.com/contents/pulmonary-atresia-with-intact-ventricular-septum-pa-ivs

  Pulmonary atresia with intact ventricular septum (PA/IVS) is characterized by complete obstruction to right ventricular (RV) outflow with varying degrees of RV and tricuspid valve (TV) hypoplasia. Blood is thus unable to flow from the RV to the pulmonary artery and lungs, and an alternative source of pulmonary blood flow is required for survival. If untreated, PA/IVS is almost always fatal. Outcomes of surgical interventions are improving, with a five-year survival rate of approximately 80 percent. […] PA/IVS is a rare congenital cardiac defect that consists of atresia of the pulmonary valve resulting in an absent connection between the right ventricular outflow tract (RVOT) and pulmonary arteries as well as an IVS that allows no connection between the right and left ventricles. […] PA/IVS features developmental abnormalities of the RV and TV that are „upstream” of pulmonary outflow. The pulmonary arteries may be small, but their architecture and branching patterns are usually otherwise normal.

• #5 Pulmonary Atresia With Intact Ventricular Septum Associated With Severe Aortic Stenosis – Revista Española de Cardiología (English Edition)

  https://www.revespcardiol.org/en-pulmonary-atresia-with-intact-ventricular-articulo-13055369

  Pulmonary atresia with intact ventricular septum is the complete obstruction of the right ventricular outflow tract due to pulmonary valve atresia in the absence of ventricular septal defect. […] Pulmonary atresia with intact ventricular septum (PAIVS) is the complete obstruction of the right ventricular outflow tract due to pulmonary valve atresia in the absence of any ventricular septal defect. […] The association of PAIVS with aortic stenosis is highly unusual and only a very few cases have been reported. […] Pulmonary atresia with intact ventricular septum is uncommon, occurring in only 0.7% of the patients with congenital heart disease. […] The disease is accompanied by various other morphological anomalies. […] Other abnormalities have been reported in the coronary arteries, such as fistulas and stenosis or atrophy. […] The association of PAIVS with aortic stenosis is rare, with only a few cases reported, either in isolation or as part of HRHS.

• #6 Pulmonary Atresia with Intact Ventricular Septum | Thoracic Key

  https://thoracickey.com/pulmonary-atresia-with-intact-ventricular-septum/

  Peacock referred to what is now called pulmonary atresia with intact ventricular septum, a malformation in which an imperforate pulmonary valve completely obstructs forward flow into the pulmonary trunk. […] The atresia is valvular (i.e., membranous) in 75% of cases and muscular (i.e., infundibular) in the remainder. […] A well-developed pulmonary trunk implies that forward flow once occurred across a pulmonary valve that was stenotic but patent during much, if not most, of fetal life. […] The reported incidence rate of pulmonary atresia with intact ventricular septum is 1 per 22,000 live births to 4.2 per 100,000 live births. […] The normal coronary circulation develops in an orderly sequence of blood islands, coronary venous connections, and coronary artery-to-aortic connections.

• #7 Pulmonary atresia with intact ventricular septum – Clinical Tree

  https://clinicalpub.com/pulmonary-atresia-with-intact-ventricular-septum/

  The reported incidence of pulmonary atresia with intact ventricular septum is 1 per 22,000 live births to 4.2 per 100,000 live births. A well-developed pulmonary trunk implies that forward flow once occurred across a pulmonary valve that was stenotic but patent during much if not most of fetal life. […] Abnormalities of the coronary vascular bed occur in 50% of patients with pulmonary atresia, intact ventricular septum, and a small right ventricle, and are either secondary to the hemodynamic derangements of the malformation or are co-existing morphologic abnormalities, such as ostial atresia, or fibromuscular dysplasia with focal luminal narrowing. […] Myocardial ischemia is an important sequela of ventriculo-coronary arterial connections. Large unobstructed connections function as a fistulous steal because blood from the aortic root flows freely into the right ventricular cavity during diastole. More commonly and more importantly, ischemia and occasionally myocardial infarction result from obstructing luminal abnormalities that range from mild medial and intimal thickening to luminal obliteration. […] Proximal discontinuity of a coronary artery is the most egregious form of this prejudicial coronary circulation, and is the result of acquired ostial obliteration or congenital atresia of an aortic sinus ostium.

• #7 Pulmonary atresia with intact ventricular septum – Clinical Tree

  https://clinicalpub.com/pulmonary-atresia-with-intact-ventricular-septum/

  Thomas Peacock, in his first edition of Malformations of the Human Heart, wrote: … the orifice or trunk of the pulmonary artery is entirely impervious. A case of this description was described by John Hunter in 1783. The child was born at the eighth month, was very livid … and died in convulsions on the thirteenth day. The pulmonary artery was found entirely impervious. The septum of the ventricles was entire, and the right ventricle had scarcely any cavity left, while the left ventricle was large and powerful. The foramen ovale continued open, and the pulmonary branches received their supply of blood from the aorta, through the medium of the arterial duct. […] Peacock referred to what is now called pulmonary atresia with intact ventricular septum, a malformation in which an imperforate pulmonary valve completely obstructs forward flow into the pulmonary trunk. The atresia is valvular, that is, membranous, in 75% of cases, and muscular (infundibular) in the remainder. Muscular pulmonary atresia is associated with right ventricular dependent coronary circulation and coronary ostial atresia.

• #8 Pulmonary Atresia with Intact Ventricular Septum | Thoracic Key

  https://thoracickey.com/pulmonary-atresia-with-intact-ventricular-septum/

  Abnormalities of the coronary vascular bed occur in 50% of patients with pulmonary atresia, intact ventricular septum, and a small right ventricle and are either secondary to the hemodynamic derangements of the malformation or are coexisting morphologic abnormalities. […] Myocardial ischemia is an important sequel of ventriculocoronary arterial connections. […] The physiologic derangements in pulmonary atresia with intact ventricular septum are implicit consequences of the anatomic features of the malformation. […] Pulmonary atresia with intact ventricular septum is equally prevalent in males and females.

• #9 Pulmonary Atresia with Intact Ventricular Septum | Radiology Key

  https://radiologykey.com/pulmonary-atresia-with-intact-ventricular-septum-2/

  Pulmonary atresia with intact ventricular septum (PA/IVS) is an anomaly in which the pathway from the right ventricle (RV) to the pulmonary artery is completely sealed off (PA) and there is no ventricular septal defect. […] In addition, PA may be acquired over the course of gestation. Critical pulmonary stenosis may progress to PA. […] The prevalence of PA ranges from 4.1 to 8.3 per 100,000 live births and accounts for approximately 3% of serious congenital heart defects. Males and females are affected equally. Multifactorial inheritance suggests a risk of recurrence of 3% to 5%. […] The hypertensive RV may act as an attractant, directing coronary migration toward it. Alternatively, very early natural connections between the developing RV and the coronary circulation may persist in order to allow for decompression and a pathway out of the embryonic RV, when the pulmonary valve is atretic.

• #10 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 congenital heart defect in which: The pulmonary valve doesn’t form properly. The pulmonary valve allows blood to flow from the heart to the lungs to get oxygen. In this rare condition, instead of a normal pulmonary valve with three leaflets that open and close, a thickened, abnormal valve forms that does not open, blocking the blood flow to the lungs. […] This defect occurs during the first eight weeks of pregnancy when the fetal heart fails to develop correctly. The cause is typically unknown.

• #11 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). […] As the heart forms, the pulmonary valve at the base of the lung artery (pulmonary artery) does not develop and the right ventricle does not develop normally and is often small (hypoplastic). […] These defects mean that little or no blue (deoxygenated) blood passes through the lung artery to the lungs. […] If blood is unable to pass to the lungs via the right side of the heart it will pass through a hole (atrial septal defect) between the right and left collecting chambers (atria) into the left side of the heart where it mixes with red (oxygenated) blood and passes into the body artery (aorta). […] Some blood will then flow to the body and some will pass to the lungs via the connection (patent ductus arteriosus) between the body artery and the lung artery.

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

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

  As yet the causes of single ventricle heart conditions are unknown. […] There are some indications that these conditions can be linked to heavy smoking, alcohol or drug abuse. […] It is very likely that one or more abnormalities are present before the third month of pregnancy but they may become more obvious as the heart is growing through the second half of the pregnancy. […] Heart abnormalities can be present in babies who have other congenital problems, for example, genetic disorders like Edwards syndrome or DiGeorge syndrome (22q Deletion).

• #12 Pulmonary atresia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/pulmonary-atresia

  Pulmonary atresia is a form of heart disease in which the pulmonary valve does not form properly. It is present from birth (congenital heart disease). The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs. […] As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is linked with another type of congenital heart defect called a patent ductus arteriosus (PDA). […] Pulmonary atresia may occur with or without a ventricular septal defect (VSD). […] If the person does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA/IVS). […] People with PA/IVS may also have a poorly developed tricuspid valve. They may also have an underdeveloped or very thick right ventricle, and abnormal blood vessels feeding the heart. Less commonly, structures in the left ventricle, aortic valve, and right atrium are involved.

• #13 SSA – POMS: DI 23022.585 – Pulmonary Atresia – 08/28/2020

  https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022585

  Pulmonary atresia is a rare congenital heart disease in which the pulmonary valve does not form properly. […] Pulmonary atresia may occur with or without a hole in the wall (septum) that separates the right ventricle and the left ventricle. […] If the infant does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA-IVS). […] Infants born with this condition also tend to have multiple other cardiac conditions, such as poorly developed tricuspid valves, underdeveloped (hypoplastic) right ventricle, and abnormal blood vessels leading into the heart.

• #14 Pulmonary Atresia with Intact Ventricular Septum | Children’s Wisconsin

  https://childrenswi.org/medical-care/herma-heart/for-medical-professionals/pediatric-heart-surgery/pulmonary-atresia-with-intact-ventricular-septum

  Pulmonary atresia with intact ventricular septum is characterized by complete atresia of the pulmonary valve with varying degrees of hypoplasia of the right ventricle and tricuspid valve. […] With severe right ventricular hypoplasia, coronary artery abnormalities can occur. […] A large atrial septal defect is present in nearly all cases, and pulmonary blood supply is provided by a patent ductus arteriosus. […] Ductal closure in the neonate with pulmonary atresia with intact ventricular septum results in severe hypoxia. […] When myocardial blood supply is determined to be dependent upon the right ventricle (right ventricular to coronary artery sinusoids with proximal coronary artery stenosis) right ventricular decompression will result in coronary hypoperfusion and myocardial ischemia. […] Severe hypoplasia of the tricuspid valve or right ventricular cavity may preclude biventricular repair, in which case a staged univentricular approach is taken.

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

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

  Pulmonary atresia is a birth defect of the pulmonary valve. This valve controls blood flow from the right ventricle to the main pulmonary artery. […] The causes of pulmonary atresia among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. A combination of genes and other risk factors may increase the risk for pulmonary atresia. These factors can include things in a mother’s environment, what she eats or drinks, or the medicines she uses.

• #16 Pulmonary atresia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/pulmonary-atresia/symptoms-causes/syc-20350727

  In pulmonary atresia, the valve that lets blood flow from the heart to the lungs doesn’t form as it should. […] The cause of pulmonary atresia is not clear. During the first six weeks of pregnancy, the baby’s heart begins to form and starts beating. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this point in a baby’s development that a congenital heart defect such as pulmonary atresia may begin to develop. […] If there’s no VSD, the right lower heart chamber gets little blood flow before birth. The chamber often doesn’t form fully. This is a condition called pulmonary atresia with intact ventricular septum (PA/IVS).

• #17 Pulmonary Atresia: Symptoms, Causes and Treatment

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

  Pulmonary atresia is a congenital heart defect, which means its present at birth. […] The exact cause of pulmonary atresia is unknown. Pulmonary valve atresia occurs during the first eight weeks that a fetus is developing in the uterus. […] 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.

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

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

  Pulmonary atresia (PA) is a complicated congenital (present at birth) heart defect. It occurs due to abnormal development of the fetal heart in the first trimester of pregnancy. […] The problem occurs as the heart is forming during the first eight weeks of fetal development. […] Some congenital heart defects may have a genetic link. This may be due to a defect in a gene, a chromosome abnormality or environmental exposure. This may cause heart problems to occur more often in certain families. Most of the time, this heart defect occurs by chance with no clear reason for its development.

• #19 18: Pulmonary Atresia with Intact Ventricular Septum | Veterian Key

  https://veteriankey.com/18-pulmonary-atresia-with-intact-ventricular-septum/

  There are several theories about the morphogenesis of pulmonary valve atresia. Most popular is the flow theory, which assumes that an anatomic abnormality early in development decreases blood flow through the right heart, resulting in diminished growth of right heart structures. The lack of growth leads to further decrease in flow through the right heart. Eventually, this cycle ends in acquired atresia of the pulmonary valve. Several structural defects have the potential to disrupt flow through the RV, including primary abnormalities of the foramen ovale, Eustachian valve, tricuspid valve, and pulmonary valve. It is likely that the timing of valve atresia is important and that infants with the smallest right heart structures are the ones who have experienced the earliest progression to atresia, whereas those with dilated right hearts may have had antegrade flow for a longer period, thus allowing for more in utero growth of the right heart. It is worth noting, however, that the cause and effect of diminished flow through the right heart and its etiologic association with PA/IVS have not been established.

• #19 18: Pulmonary Atresia with Intact Ventricular Septum | Veterian Key

  https://veteriankey.com/18-pulmonary-atresia-with-intact-ventricular-septum/

  Both genetic and environmental factors have been implicated in the etiology of PA/IVS, but little is known about specific contributing factors. It is likely that genetic factors, when important, are multifactorial. From empiric data, it appears that PA/IVS is not one of the more heritable forms of congenital heart disease and is only occasionally associated with specific chromosomal anomalies. There are, however, anecdotal reports of pedigrees that include more than one family member with PA/IVS, including a few reports of affected siblings. […] The role of environmental factors in the etiology of PA/IVS is also unknown. Evidence that environmental factors can directly influence the development of the right heart comes from a report by BaetzGreenwalt et al. This paper described 14 infants with right heart hypoplasia, all diagnosed within a 2-year period in a small area of Ohio. Of this group, 79% had extracardiac anomalies, prompting speculation that an environmental exposure in the second month of pregnancy may have produced a new syndrome, which included abnormalities of right heart growth.

• #20 Pulmonary Atresia With Intact Ventricular Septum | Thoracic Key

  https://thoracickey.com/pulmonary-atresia-with-intact-ventricular-septum-7/

  The fundamental etiology of pulmonary atresia has not been elucidated. Both developmental and acquired etiologies have been proposed. The lesion has been observed in siblings, which raises the possibility of a genetic mechanism in some cases. There have also been observations showing the development of the lesion during fetal life in association with twin-twin transfusion. It seems likely, therefore, that the morphologic entity represents a common endpoint for a range of underlying disorders, both hereditary and acquired during fetal life. […] The very presence of an intact ventricular septum strongly implies that development has proceeded normally beyond 8 weeks of gestation, this being the time at which there is normal closure of the embryonic interventricular communication. The pulmonary valve will have been patent at this stage of development. It follows that the developmental insult that produces pulmonary atresia likely occurs subsequent to closure of the interventricular communication. The leading paradigm holds that the primary developmental insult initially produces valvar stenosis, which progresses to atresia. This view is supported by evidence from fetal echocardiography, which has documented cases of progression from pulmonary stenosis to atresia. The insult promoting such initial stenosis, and ultimately fusion, of the valvar leaflets, however, has yet to be identified.

• #21

  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. […] Molecular analysis identified a biallelic 55-kb deletion of chromosome 20q13.12 in both girls.

• #22 Pulmonary Atresia with Intact Ventricular Septum | Symptons & Causes

  https://freedmanshealth.org/disease-conditions/symptoms-causes/pulmonary-atresia-with-intact-ventricular-septum/

  Pulmonary atresia is a congenital (present at birth) heart defect in which your pulmonary valve doesnt develop normally or stays blocked after birth. […] 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.

• #23 Pulmonary Valve Atresia | NCBDDD | CDC

  https://archive.cdc.gov/www_cdc_gov/ncbddd/birthdefects/surveillancemanual/quick-reference-handbook/pulmonary-valve-atresia.html

  Pulmonary valve atresia is a structural heart anomaly characterized clinically by cyanosis and anatomically by an imperforate pulmonary valve that blocks completely the flow of blood through the right ventricular outflow tract. […] The atresia can take the form of a membrane because the valve failed to form or of an imperforate muscle structure. […] Pulmonary atresia with intact ventricular septum is often isolated but can be associated with unrelated anomalies and syndromes as well as with other intracardiac anomalies, especially those that involve the right side of the heart. […] Pulmonary atresia with ventricular septal defect can be associated with deletion 22q11, unlike the form with intact ventricular septum.

• #24 Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

  https://www.mdpi.com/2073-4425/15/5/638

  Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. […] Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. […] We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes. […] Pulmonary atresia with intact ventricular septum (PA-IVS) is a congenital heart disease (CHD) marked by the absence of a functional pulmonary valve. […] Currently, several cases of BrS associated with pathogenic SCN5A variants have been implicated in overlap phenotypes with CHD, mainly ventricular septal defect, suggesting a common embryologic origin leading to structural and arrhythmogenic defects, despite no PA-IVS concomitant to BrS being reported to date.

• #25 Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

  https://www.mdpi.com/2073-4425/15/5/638

  The present case raises, for the first time, new questions about pathogenic variants in the SCN5A gene as a cause of BrS concomitant to pulmonary atresia with an intact ventricular septum. This association suggests that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis leading to overlapping phenotypes.

• #26 Pulmonary atresia – Wikipedia

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

  Pulmonary atresia is a congenital malformation of the pulmonary valve in which the valve orifice fails to develop. The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. […] In terms of the cause of pulmonary atresia, there is uncertainty as to what instigates this congenital heart defect. Potential risk factors that can cause this congenital heart defect are those the pregnant mother may come in contact with, such as: Certain medications, Diet, Smoking.

• #27 Pulmonary Atresia: Overview, Causes, Treatment

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

  Pulmonary atresia is a serious congenital heart irregularity that develops during fetal development. In this condition, the pulmonary valve, which controls blood flow from the heart to the lungs, doesn’t form properly. This prevents blood from flowing to the lungs to pick up oxygen, leading to severe health issues such as heart failure. […] The exact cause of pulmonary atresia is unknown, but it’s believed to result from a combination of genetic and environmental factors. Pulmonary atresia occurs during fetal development when the baby’s heart is forming. It happens when the valve that controls blood flow from the heart to the lungs doesn’t form correctly, leading to a blockage that prevents blood from reaching the lungs. […] Risk factors for pulmonary atresia include: Genetic factors: A family history of congenital heart irregularities can increase the risk of a child being born with pulmonary atresia. Research has discovered new genes linked to pulmonary atresia through whole exome sequencing. Maternal factors: Certain maternal factors during pregnancy, such as maternal diabetes, smoking, older age during pregnancy, or intake of teratogenic drugs (medications that affect the fetus), may increase the risk of congenital heart irregularities in the baby, including pulmonary atresia.

• #28 Pulmonary atresia with intact ventricular septum | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pulmonary-atresia-intact-ventricular-septum

  The cause of pulmonary atresia with intact ventricular septum, also called PA/IVS, is not clear. Most congenital heart conditions happen during the first six weeks of pregnancy as a baby’s heart is forming. The major blood vessels that run to and from the heart also begin to develop during this critical time. It’s at this time that a congenital heart defect such as pulmonary atresia may begin to form. […] What increases the risk of pulmonary atresia with intact ventricular septum, also called PA/IVS, is not well known. Possible risk factors for congenital heart defects such as PA/IVS may include: […] Changes in some genes have been linked to heart conditions at birth. For example, people with Down syndrome often are born with heart conditions. […] Having rubella during pregnancy can cause changes in a baby’s heart.

• #29 Pulmonary atresia with intact ventricular septum

  https://www.isuog.org/clinical-resources/patient-information-series/patient-information-pregnancy-conditions/heart/pulmonary-atresia-with-intact-ventricular-septum.html

  Pulmonary atresia with intact ventricular septum encompasses a group of cardiac anomalies that have in common a complete obstruction of the valve that connects the right ventricle (RV) and the pulmonary artery that carries blood to the lungs, in the presence of an intact interventricular septum. […] In fetal life, there is a defect in the development of the pulmonary valve. It is not known why this defect occurs. It is thought that there may be an inflammatory origin. Pulmonary valve obstruction can sometimes occur in twin gestations where there is a shared placenta for both twins and a disruption of the placental vessels. […] PA-IVS can be associated with important anomalies in the heart and, less frequently, abnormalities in other body parts. In addition, it could be associated with chromosomal and genetic abnormalities.

• #30

  https://link.springer.com/article/10.1007/s00246-024-03566-x

  This study aimed to compare long-term morbidity in patients with pulmonary atresia with intact ventricular septum (PA-IVS) treated with catheter-based intervention (group A) versus those undergoing heart surgery (group B) as initial intervention. […] Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare and heterogeneous congenital heart defect. […] The inclusion criterion was decompression of the right ventricle for initial intervention. […] The presence of tricuspid valve dysplasia, of various degree, was noted but not an exclusion criterium. […] The two pediatric cardiothoracic centra have different primary treatment method. […] The systematic literature review displays that given the heterogeneity of the heart defect and the variability in standards among cardiac centers worldwide, it remains challenging to establish a definitive gold standard treatment.

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

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

  Pulmonary atresia: imperforate due to membranous or thicker muscular atresia. Typically the morphology of the pulmonary valve will correlate with the character of the right ventricle. […] Abnormal coronary circulation and development of ventriculocoronary connections: Typically due to subepicardial coronary arteries, development of sinusoidal or fistulous connections depending on the RV pressure. […] In the majority of cases the branch pulmonary arteries are confluent and fed by a left-sided patent ductus arteriosus. Rarely, discontinuous pulmonary arteries are supplied by bilateral ducti or aortopulmonary collaterals.

• #32 Single Ventricle Defects | American Heart Association

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

  Pulmonary Atresia/Intact Ventricular Septum – The pulmonary valve does not exist, and the only blood receiving oxygen is the blood that is diverted to the lungs through openings that normally close during development. […] 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. […] In most children, the cause isn’t known. Some children can have other heart defects along with pulmonary atresia. […] An opening in the atrial septum lets blood exit the right atrium, so low-oxygen blood mixes with the oxygen-rich blood in the left atrium. […] Some patients with pulmonary atresia/intact septum can have a repair that allows the right ventricle to grow and function in a more normal way than other patients with single ventricles. A more complete repair depends on the size of the pulmonary artery and right ventricle. If the pulmonary artery and right ventricle are very small, the patient may require the same type of operation as other single ventricle patients. In some patients, abnormal channels (sinusoids) form between the coronary arteries and the right ventricle. These sinusoids can complicate this condition and even result in a heart transplant being recommended.

• #33 MYOCARDIAL ISCHEMIA IN PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM | Pediatric Research

  https://www.nature.com/articles/pr1984252

  Children dying after operation for pulmonary atresia and intact ventricular septum (PA-IVS) may have evidence of myocardial ischemia. The etiology of ischemia in these patients is unknown. […] Pts with PA-IVS may have myocardial ischemia with or without either right ventricular to coronary artery fistulae or coronary dysplasia. Myocardial ischemia may follow right ventricular outflow reconstruction or shunt operations. Thus, myocardial ischemia occurs commonly with PA-IVS and does not always relate to coronary abnormalities or right ventricular outflow reconstruction. Myocardial ischemia may be due to poor subendocardial perfusion of a small chambered, yet hypertrophic and hypertensive ventricle.

• #34 Pulmonary Atresia With Intact Ventricular Septum Associated With Severe Aortic Stenosis – Revista Española de Cardiología

  https://www.revespcardiol.org/es-pulmonary-atresia-with-intact-ventricular-articulo-13055369

  Pulmonary atresia with intact ventricular septum is the complete obstruction of the right ventricular outflow tract due to pulmonary valve atresia in the absence of ventricular septal defect. […] The association of PAIVS with aortic stenosis is highly unusual and only a very few cases have been reported. […] Pulmonary atresia with intact ventricular septum is uncommon, occurring in only 0.7% of the patients with congenital heart disease. […] The disease is accompanied by various other morphological anomalies. […] Other abnormalities have been reported in the coronary arteries, such as fistulas and stenosis or atrophy. […] The prognosis is usually poor in the absence of treatment, with over 50% mortality at one month. […] The association of PAIVS with aortic stenosis is rare, with only a few cases reported, either in isolation or as part of HRHS.

• #35 What Is Pulmonary Atresia With Intact Ventricular Septum?

  https://www.icliniq.com/articles/genetic-disorders/pulmonary-atresia-with-intact-ventricular-septum

  A rare birth defect called pulmonary atresia with intact ventricular septum (PAIVS) affects the heart. It is marked by the right ventricle developing unevenly, an imperforate pulmonary valve, and probably long connections between the ventricles and the coronary arteries. […] The prognosis and treatment plan depend on how bad the right ventricular hypoplasia is. This includes the unfavorable and underdeveloped tricuspid valve, and the quantity of the myocardium depends on blood flow problems between the right ventricle and the coronary arteries. […] Individuals with pulmonary atresia with intact ventricular septum (PAIVS) may exhibit a variety of right ventricular myocardial abnormalities, such as ischemia, fibrosis, infarction, perforation, fiber disarray, spongy myocardium, and endocardial fibroelastosis. The extent of endocardial fibroelastosis is inversely proportional to the level of ventricular-coronary connections.

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