Materiały źródłowe

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

  https://www.ncbi.nlm.nih.gov/books/NBK546666/

  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 one of the rare forms of congenital heart disease, accounting for <1% of total heart defects. 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. [...] 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 Pulmonary Atresia With Intact Ventricular Septum | Treatment & Management | Point of Care

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

  Regarding the timing of occurrence, Kusche and Van Mierop suggested that the insult leading to PA-IVS occurs later in gestation compared to pulmonary atresia with ventricular septal defect (PA-VSD). They indicated that the insult leading to PA-VSD occurs before the complete formation of the ventricular septum, whereas PA-IVS occurs following the completion of ventricular septal formation. […] Atresia of the pulmonary valve is classified into membranous and muscular forms, and distinguishing between these forms is crucial. Membranous pulmonary atresia has a better long-term prognosis compared to muscular pulmonary atresia due to the higher incidence of abnormal connections between the right ventricle and the coronary arteries. […] The progressive nature of RVDCC correlates with a poor prognosis. […] Intrauterine valvuloplasty enhances ventricular growth and function. Fetal pulmonary valvuloplasty, first performed in 2002 at the Children’s Hospital of Linz, is anticipated to support right ventricular development and improve prognosis.

• #4 Pulmonary atresia with ventricular septal defect – Wikipedia

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

  Pulmonary atresia in PAVSD takes place during the first 8 weeks of fetal life, when the pulmonary valve that is supposed to form, fails to form, this doesn’t allow blood to flow through the pulmonary artery from the right ventricle. The ventricular septal defect associated with PAVSD lets the right ventricule form. […] In some cases of PAVSD, major aortopulmonary collateral arteries develop; in a normal fetus, these arteries usually develop but then start deteriorating after pulmonary arteries grow, in fetuses with PAVSD, the pulmonary arteries don’t develop, and this gives a chance to the major aortopulmonary collateral arteries to develop fully.

• #5 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. […] The normal coronary circulation develops in an orderly sequence of blood islands, coronary venous connections, and coronary artery-to-aortic connections. […] 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.

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

  https://clinicalpub.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, 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. […] 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. […] The normal right ventricle consists of an inlet portion that is part of the diastolic filling mechanism, and a trabecular and an infundibular portion that are parts of the systolic pump mechanism. Over three quarters of cases of pulmonary atresia with intact ventricular septum are characterized by a small thick-walled right ventricle that is equipped with all three of these morphologic portions, together with fiber disarray, capillary disorganization, and endocardial fibroelastosis.

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

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

  PA/IVS is a complex lesion with heterogeneity in procedural pathways, prognosis, as well as anatomic variance. The important characteristics in 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. If the RV is well formed, the pulmonary valve is likely to have complete fusion of the cusps and commissures causing a membranous atresia. On the other hand, if the RV is diminutive, there is likely to be a primitive pulmonary valve and severely narrowed or atretic infundibulum or muscular atresia. […] Right ventricular features: There is a wide range of heterogeneity in the RV size, its inlet, tricuspid valve competency and function. The RV may range from a fully developed tripartite structure to a severely underdeveloped and hypoplastic inlet RV. Studies have shown the Z-score of the tricuspid valve to be associated with the size of the right ventricular cavity.

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

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

  The morphology of the RV may be abnormal and is an important component of the anomaly. The RV is anatomically considered to consist of three parts (tripartite). It can be divided into (1) an inlet or sinus portion, which is the region just beneath the TV, (2) a trabecular or muscular portion, which makes up the apex, and (3) an outlet portion, which consists of the infundibulum. In PA/IVS, there may be severe underdevelopment and distortion of the ventricle so that only an inlet portion is recognized. […] Coronary abnormalities are common in PA/IVS, especially in the setting of a hypertrophied, hypertensive RV with little or no tricuspid regurgitation. There is an inverse relationship between RV size and coronary abnormalities—the smaller the RV and tricuspid annulus, the more likely there will be coronary abnormalities.

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

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

  Functional pulmonary atresia has been used to refer to a dilated mechanically inadequate right ventricle with tricuspid regurgitation that cannot generate sufficient systolic pressure to open a stenotic but non-atretic pulmonary valve. […] The coronary circulation in pulmonary atresia with intact ventricular septum and small right ventricle has long been the focus of lively interest. Intramyocardial sinusoids were described in 1926 and play important roles in the pathogenesis of right ventricular-to-coronary artery communications. 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.

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

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

  The prevalence of coronary arterial abnormalities in PA/IVS is as follows. Fistulous communications between the RV and the coronary arteries are noted in 75% of patients. […] In cases of suprasystemic right ventricular pressure with severe septal hypertrophy, the septum may bow right to left into the left ventricular outflow tract causing subaortic obstruction. […] The coronary arteries develop from the epicardial surface of the heart and normally migrate toward the aorta. In PA/IVS, normal coronary development is altered. The hypertensive RV may act as an attractant, directing coronary migration toward it. […] In the fetus with PA/IVS, there is no antegrade flow across the pulmonary valve. Consequently, all flow across the ductus arteriosus is retrograde (aortatopulmonary artery), supplying the branch pulmonary arteries.

• #11 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

  The trunk and pulmonary branches are well formed. […] The left atrium is slightly or moderately dilated because it receives both the systemic and the pulmonary venous return. […] The left ventricle is enlarged and its distensibility and contractility are altered. […] As a result of the high pressure in the right ventricle, the embryonic connections of the ventricular chamber with the coronary circulation remain, forming the sinusoids, which are connected with the myocardial capillary bed and, via the latter, with the epicardial coronary arteries. […] The sinusoids carry poorly oxygenated blood to the myocardium and can end blindly. […] They are subjected to high systolic pressures which lead to hypertrophy of the middle layer of the intramural arteries and progressive enlargement of the sinusoids, which may result in myocardial rupture.

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

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

  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. Typically, the RV-dependent coronaries develop due to absent aortocoronary connections, coronary artery interruption or stenosis or profound coronary-cameral steal or fistula. […] The hemodynamics can differ greatly depending on the specific constellation of anatomic variance. There will be progressive cyanosis in the early neonatal period. They will typically be a murmur related to the degree of tricuspid valve regurgitation as well as a ductal murmur. These patients will need prostaglandin infusion in the neonatal period to ensure patency of the patent ductus arteriosus in order to maintain adequate pulmonary blood flow.

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

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

  Proximal discontinuity and luminal obstruction set the stage for a right ventriculardependent coronary circulation in which suprasystemic systolic pressure is required to generate retrograde coronary blood flow on which myocardial perfusion depends. […] The physiologic derangements in pulmonary atresia with intact ventricular septum are implicit consequences of the anatomic features of the malformation. […] Blood from the aorta reaches the pulmonary circulation through a tenuously patent ductus arteriosus on which survival depends. […] When the ductus closes, effective pulmonary blood flow ceases.

• #14 18: Pulmonary Atresia with Intact Ventricular Septum | Veterian Key

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

  In those with right ventriculardependent coronary artery circulation, oxygen delivery to the myocardium depends on the perfusion pressure and oxygen content in the RV. If either of these falls significantly, myocardial ischemia can result. […] The most dramatic changes are those occurring after decompression of the RV. As ventricular pressure falls, myocardium that was perfused through sinusoids may experience at least a transient decrease in blood flow, leading to myocardial ischemia.

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

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

  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. […] The physiologic derangements in pulmonary atresia with intact ventricular septum are implicit consequences of the anatomic features of the malformation. Venous blood reaches the systemic circulation via an interatrial communication that is usually a restrictive patent foramen ovale which is the only exit from the right atrium. Unoxygenated right atrial blood mixes with oxygenated left atrial blood and flows into the left ventricle and into the aorta, so systemic arterial oxygen saturation is reduced. Blood from the aorta reaches the pulmonary circulation through a tenuously patent ductus arteriosus upon which survival depends. When the ductus closes, effective pulmonary blood flow ceases. Systemic-to-pulmonary collaterals are inadequate for survival.

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

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

  The progressive nature of RVDCC correlates with a poor prognosis. […] Advancements in prenatal diagnostic and treatment methods, along with the advent of intrauterine interventions, have enabled treatments to be administered during the fetal period. […] Fetal pulmonary valvuloplasty, first performed in 2002 at the Children’s Hospital of Linz, is anticipated to support right ventricular development and improve prognosis.

• #17 Pulmonary atresia with intact ventricular septum | PPT

  https://www.slideshare.net/slideshow/pulmonary-atresia-with-intact-ventricular-septum/30908914

  PA/IVS is fatal 50% die within two weeks of birth 85% by six months. PA/IVS is a ductal-dependent lesion, closure of the patent ductus arteriosus (PDA) generally results in rapid clinical deterioration and life-threatening consequences, including severe metabolic acidosis and hypoxemia, seizures, cardiogenic shock, cardiac arrest, and death. Rarely, prolonged survival can occur with pulmonary blood flow maintained by a persistent PDA or systemic artery to pulmonary artery blood flow via one or more collateral blood vessels. […] It is important to determine whether coronary arterial perfusion is dependent on circulation from the RV (ie, right ventricular dependent coronary circulation), as decompression of the RV during surgery could lead to coronary artery steal, ischemia, infarction, cardiac arrest, and/or death.

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

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

  These physiologic pathways from the right atrium to the left side of the heart are relatively constant from patient to patient, but the patterns in the right side of the heart vary considerably. When the right ventricle is small, little blood enters or leaves its cavity because the diminutive chamber and the diminutive tricuspid valve obstruct right atrial flow which is further compromised by a thick ventricular wall and endocardial fibroelastosis. When the right ventricle is dilated and thin-walled, and the tricuspid valve is incompetent, right atrial blood copiously enters the ventricular cavity during diastole only to be returned to the right atrium during the next systole.

• #19 Pulmonary atresia with intact interventricular septum management | PPT

  https://www.slideshare.net/slideshow/pulmonary-atresia-with-intact-interventricular-septum-management/238649424

  Newborns present with cyanosis and rely on a patent ductus arteriosus for pulmonary blood flow. Without intervention, most infants will die within the first few months of life. Treatment involves surgical procedures like the Blalock-Taussig shunt, bidirectional Glenn procedure, and Fontan operation to redirect blood flow to the lungs without using the right ventricle.

• #20 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

  A further consequence of sinusoids communicating with one or both coronary arteries is a phenomenon of ischemic steal from the coronary capillary bed during diastolic flow. […] Other abnormalities have been reported in the coronary arteries, such as fistulas and stenosis or atrophy. […] In the absence of fetal development of severe tricuspid valve incompetence, there is no resulting congestive heart failure and the incidence of fetal death is low. […] The clinical manifestations in the newborn are cyanosis, hypoxemia, metabolic acidosis, and right and left heart failure. […] The prognosis is usually poor in the absence of treatment, with over 50% mortality at one month. […] Postnatal survival depends on the patency of the ductus arteriosus, which explains the requirement for continuous infusion of prostaglandin-E1; closure of the ductus would lead to death.

• #21 Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China | Cardiovascular Ultrasound | Full Text

  https://cardiovascularultrasound.biomedcentral.com/articles/10.1186/s12947-025-00348-0

  Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare cyanotic congenital heart defect by the complete closure of the pathway from the right ventricle to the pulmonary artery, while the interventricular septum remains intact. It accounts for approximately 13% of all congenital heart diseases. The pathological anatomy of PA/IVS is highly variable, involving malformations of the pulmonary valve, right ventricle, tricuspid valve, and coronary arteries. Additionally, pulmonary atresia may develop progressively with advancing gestational age, as severe pulmonary stenosis can get involved into pulmonary atresia during fetal development. The heterogeneity of its pathological anatomy and the potential for intrauterine progression present significant challenges to the accuracy of prenatal diagnosis.

• #22 Prenatal Diagnosis of Pulmonary Atresia with Intact Ventricular Septum

  https://www.contemporaryobgyn.net/view/prenatal-diagnosis-pulmonary-atresia-intact-ventricular-septum

  Right ventricular hypoplasia is usually present and is thought to be the result of an inadequate amount of blood entering the ventricle, impeding its growth. The fact that the pulmonary artery and ductus arteriosus are usually of normal caliber would imply that there was normal blood flow through the pulmonary artery at one time. However, another hypothesis would be that the reversal of blood flow through the ductus maintains patency. […] Because a normal caliber main pulmonary artery does not exclude the diagnosis of pulmonary atresia, demonstrating reversal of blood flow through the ductus is essential. Retrograde blood flow through the ductus is virtually always present in pulmonary atresia with intact ventricular septum. […] The tricuspid valve is by definition, patent in all cases of pulmonary atresia with intact ventricular septum, but rarely normal. The tricuspid valve orifice is usually proportional to the size of the right ventricular cavity. The valve leaflets are often dysplastic, which results in varying degrees of insufficiency or stenosis.

• #23 Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China | Cardiovascular Ultrasound | Full Text

  https://cardiovascularultrasound.biomedcentral.com/articles/10.1186/s12947-025-00348-0

  Therefore, it remains crucial to investigate how prenatal ultrasound can accurately diagnose PA/IVS throughout pregnancy and enhance the integrated prenatal-to-postnatal management of affected fetuses. […] The progressive nature of right ventricular outflow tract obstruction (RVOTO) in some cases underscores the necessity for serial monitoring, particularly in twin pregnancies where hemodynamic disturbances may accelerate disease progression. […] The high VCAC incidence (39.6%) in our series may reflect referral bias but equally highlights the critical need for detailed coronary evaluation in prenatal assessment. This is particularly relevant given the established mortality risk associated with RVDCC, though our study confirms the ongoing challenge of reliable prenatal identification. […] The 14.6% twin pregnancy incidence exceeds general population expectations, with particularly notable progression dynamics in TTTS cases. The observed transition from PS to PA/IVS in both recipients and donors complicates traditional volume-load paradigms, suggesting multifactorial mechanisms including RAS-mediated afterload effects and circular shunt physiology. These findings reinforce current recommendations for intensified surveillance in monochorionic twins with hemodynamic imbalance.

• #24 Avens Publishing Group – Pulmonary Atresia with Intact Ventricular Septum: an Interprofessional Approach

  https://www.avensonline.org/fulltextarticles/JSYND-2380-6036-06-0015.html

  The most common abnormality of the pulmonary valve is the fusion of its three valves, that create a thin membrane that prevents blood flow; It is also possible to find an obliteration of the right ventricular infundibulum resulting in muscular infundibular atresia. […] The diagnosis of PA-IVS is possible with echocardiography, where the absence of the RV outflow tract and intact ventricular septum can be observed, as was the case in our patient. […] It is known that an interprofessional approach, along with clinical and imaging knowledge of this disease is essential to provide appropriate monitoring, early guidance, and effective treatment to improve the survival rate of these patients.

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

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

  If significant coronary artery abnormalities are found, there is a risk of poor blood flow to the heart muscle. This can cause the function of ventricles to decrease significantly. […] 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. […] After birth, it is important to make sure the ductus arteriosus stays open to allow blood to get to the lungs to pick up oxygen. […] Some patients, particularly those who had a pulmonary valve that did not form normally but do not have a lot of muscle under the valve, may be eligible for another procedure. […] If the right side of the heart is too small, the child will need to undergo Single Ventricle palliation and ultimately will have a Fontan circulation. […] Finally, in some patients with significant coronary abnormalities who do not have good blood supply to their heart muscle, a heart transplant may be required.

• #26 Pulmonary Atresia with Intact Ventricular Septum | SpringerLink

  https://link.springer.com/10.1007/978-3-031-07563-6_57

  Pulmonary atresia with intact ventricular septum is a cyanotic congenital heart disease characterized by complete obstruction of the right ventricular outflow tract, right ventricular hypoplasia, myocardial hypertrophy, and deranged coronary arteries. […] Advances in fetal imaging have led to improvements in our ability to prognosticate which patients are likely to have functionally single versus biventricular therapeutic pathways. […] In addition, early data on fetal intervention reveals a potential to promote the growth of the right-sided structures. […] Postnatally, our understanding of the anatomical and physiological factors has resulted in a tailored approach to patient care, with improved survival. […] Angiographic assessment of the coronary arteries has long been a key diagnostic tool, and transcatheter interventions are becoming more refined, with resulting improvement in outcomes.

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

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

  At initial encounter of a fetus with PA/IVS, prognosis and counseling hinge on assessment of the anatomy as being most favorable for a two-ventricle (biventricular) repair strategy or a single-ventricle palliative strategy. […] When coronary artery abnormalities are present in PA/IVS, it is important to distinguish between two categories of patients. […] Most fetuses with PA/IVS have no significant problems in utero. However, the presence of extensive fistulous communications places the fetus at risk for ischemia, arrhythmia, and sudden death in utero. […] Fetal intervention for PA/IVS remains controversial, although proponents argue that fetal pulmonary valvuloplasty is indicated in cases of impending hydrops.

• #28 Prenatal diagnosis of pulmonary atresia with intact ventricular septum: a single-center study in China | Cardiovascular Ultrasound | Full Text

  https://cardiovascularultrasound.biomedcentral.com/articles/10.1186/s12947-025-00348-0

  The long-term prognosis of PA/IVS depends primarily on the anatomical features and the surgical repair approach. Numerous studies have attempted to identify predictive factors during the fetal period that can determine the postnatal circulation type. With advancements in medical science and technology, fetal cardiac intervention has emerged as a specialized field. In-utero pulmonary valvuloplasty can be performed in fetuses with PA/IVS to relieve obstructive lesions, promote right ventricular development, and increase the likelihood of achieving biventricular circulation after birth. […] PA/IVS is a congenital heart defect characterized by ductus arteriosus (DA)-dependent pulmonary circulation. After birth, pulmonary blood flow relies on to the patency of DA. Closure of the DA leads to severe hypoxemia, necessitating prostaglandin E1 infusion in all newborns with PA/IVS to maintain DA patency. Accurate prenatal ultrasound diagnosis and risk stratification are therefore critical for effective prenatal counseling, perinatal management, and postnatal treatment planning.

• #29 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. It is defined by complete blockage of the right ventricular outflow tract without a ventricular septal defect, commonly accompanied by underdevelopment of the right ventricle and tricuspid valve. […] The pathophysiology of PA-IVS involves complete blockage of the pulmonary valve, resulting in obstruction of the right ventricular outflow tract. This commonly leads to an underdeveloped right ventricle, and the elevated intraventricular pressures can promote the formation of abnormal coronary artery connections, known as right ventricle-dependent coronary circulation. […] 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. […] PA-IVS is one of the most complex congenital heart conditions. Its intricate anatomy, variable clinical presentation, and significant long-term issues make it exceptionally challenging to manage.

• #30

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

• #31 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. It is due to altered embryogenesis culminating in an underdeveloped right ventricular chamber, and specifically affects the RVOT. […] The fact that both pathologies share a preferential pathophysiological location in the RVOT raises questions regarding a more than coincidental connection.

• #32 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 pathogenicity of the variant, as well as the novo identification in our index case, supports the causative role of the variant as the origin of the BrS, but also as being responsible for PA-IVS. […] 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.

• #33 Prenatal Diagnosis of Pulmonary Atresia with Intact Ventricular Septum

  https://www.contemporaryobgyn.net/view/prenatal-diagnosis-pulmonary-atresia-intact-ventricular-septum

  Hypoplasia of the right ventricle is uncommon as an isolated entity. It may result from tricuspid atresia, but is most commonly secondary to pulmonary atresia with intact ventricular septum. […] Pulmonary atresia with intact ventricular septum is rare, accounting for 1-3% of cases of congenital heart disease. It occurs in 0.1 to 0.4 in 10,000 live births. Pulmonary atresia with intact ventricular septum has been reported to occur slightly more frequently in males. […] Embryologically, pulmonary atresia is thought to occur following cardiac septation. It is thought to be a sporadic occurrence, but an autosomal recessive association has been suggested. Pulmonary atresia with intact ventricular septum has also been reported to occur secondary to an inflammatory process, such as Rubella. […] Patients with pulmonary atresia and intact ventricular septum usually have a pulmonary valve with three fused cusps. The main pulmonary trunk is of normal or slightly increased caliber in over 50% of cases. This differs from pulmonary atresia associated with a ventricular septal defect, in which the main pulmonary artery diameter is almost always decreased.

• #34 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.

• #35 Avens Publishing Group – Pulmonary Atresia with Intact Ventricular Septum: an Interprofessional Approach

  https://www.avensonline.org/fulltextarticles/JSYND-2380-6036-06-0015.html

  Pulmonary atresia with intact ventricular septum (PAIVS) is congenital heart disease (CHD) with patent ductus arteriosus and the complete obstruction of the right ventricular outflow tract as a result of pulmonary valve atresia. It occurs in 4 to 8 per 100,000 live births, representing 1 to 3% of all heart defects in children. […] PA-IVS is a rare CHD characterized by the absence of blood flow from the right ventricle to the pulmonary valve due to an obstruction. It is considered a critical, ductus-dependent CHD, that includes pulmonary atresia with intact ventricular septum, and variable degrees of RV hypoplasia. […] The pathogenesis of PA-IVS is still unclear; It has been theorized that an insult during the sensitive stages of embryological development or inflammation of the pulmonary valve that seals it after birth might be possible causes.

• #36 NeoCardio Lab – Pulmonary Atresia Intact Ventricular Septum

  https://www.neocardiolab.com/congenital-heart-defects/pulmonary-atresia-intact-ventricular-septum

  Pulmonary atresia with intact ventricular septum (PAIVS) is a complex congenital heart defect characterized by pulmonary valvular atresia. […] The disease is PGE dependent – ductal dependent – to allow adequate pulmonary circulation. […] Pulmonary atresia with intact ventricular septum is a complex condition where there is dependent ductal pulmonary circulation. […] They will be cyanotic, considering that the right to left shunt is obligatory at the atrial level, introducing deoxygenated blood in the systemic circulation. […] This condition is of particular interest, considering that there is a risk in a subcategory of infants with PAIVS of persistent sinusoids, possibly stealing from the coronary circulation. […] Because of this, these remnant embryological channels (sinusoids) may stay patent and connect the RV cavity to the coronary system.

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