Materiały źródłowe

• #1 Congenital Heart Disease in Adults: Residua, Sequelae, and Complications of Cardiac Defects Repaired at an Early Age – Revista Española de Cardiología (English Edition)

  https://www.revespcardiol.org/en-congenital-heart-disease-in-adults-articulo-13046082

  Nowadays, it is estimated that 85% of the infants born with congenital heart disease (CHD) will survive to adulthood, thanks mainly to surgical or therapeutic procedures performed during infancy or childhood. […] The clinical profile and disease pattern of adults with CHD is changing. The prevalence of certain adult CHDs, such as tetralogy of Fallot, transposition of the great arteries or univentricular heart, is rising, but these conditions have practically become new diseases as a result of therapy. […] Most surviving patients present residua, sequelae, or complications, which can progress during adult life. […] These disorders can present electrophysiological disturbances, valvular disease, persistent shunts, myocardial dysfunction, pulmonary or systemic vascular disease, problems caused by prosthetic materials, infectious complications, thromboembolic events, or extravascular disorders involving multiple organs or systems.

• #1 Congenital heart disease: types, pathophysiology, diagnosis, and treatment options

  https://pmc.ncbi.nlm.nih.gov/articles/PMC11224996/

  Congenital heart disease (CHD) is a structural abnormality of the heart and/or great vessels occurring at birth that results in a series of short and longterm adverse sequelae. The etiology of CHD is complicated and the underlying pathogenesis remains unclear in approximately 50% of patients with CHD. However, several environmental and genetic factors are found to be involved in the pathogenesis of CHD. […] Approximately 400 gene abnormalities are associated with the pathogenesis of CHD and 10-30% of structural CHD cases are due to genetic mutations. […] Compared with the general population, patients with CHD have an increased risk of various morbidities throughout their lives and reduced longterm survival. […] The management of CHD is challenging due to its overall prevalence. There exit controversies on the management of CHD among established international guidelines. […] This extensive review provides an update of the pathophysiology, diagnosis, and treatment of most common types of CHD, focusing on what is known and what is unknown, to improve the current understanding of CHD.

• #1

  https://www.nhs.uk/conditions/congenital-heart-disease/causes/

  Congenital heart disease is caused when something disrupts the normal development of the heart. […] It’s thought that most cases occur when something affects the heart’s development during the first 6 weeks of pregnancy. This is when the heart is developing from a simple tube-like structure into a shape more like a fully formed heart. […] While some things are known to increase the risk of congenital heart disease, no obvious cause is identified in most cases. […] Several genetic health conditions that a baby inherits from 1 or both parents can cause congenital heart disease. […] It’s also recognised that certain types of congenital heart disease run in families. […] About half of all children with Down’s syndrome have congenital heart disease. […] Women with diabetes have a higher risk of giving birth to a baby with congenital heart disease than women who don’t have diabetes.

• #1 Genetic and epigenetic mechanisms in the development of congenital heart diseases | World Journal of Pediatric Surgery

  https://wjps.bmj.com/content/4/2/e000196

  To our knowledge, although numerous literatures have discussed the genetic mechanisms of CHD, few have comprehensively elaborated the genetic and epigenetic mechanisms of CHD. In this review, we focus on CHD origin from the etiology of genetics and epigenetics. Chromosomal abnormalities and gene mutations in genetics, and DNA methylations, histone modifications and on-coding RNAs in epigenetics are summarized in detail. Moreover, we expect that rapidly emerging data could provide a further understanding of genetics and epigenetics in the development of CHD and also a basis for further exploring the early diagnosis and individualized therapy of CHD. […] Epigenetics, which refers to the mechanisms of changed gene expression that are independent of DNA sequence, provides a new way to understand the pathogenesis of CHD. To date, three canonical mechanisms of epigenetics include DNA methylation, histone modification and non-coding RNAs. The increasing evidence suggests that the aberrant regulation of gene expression by epigenetics is a key factor in the development of cardiovascular diseases, which have attracted attention to focus on the role of epigenetics in CHD.

• #1 Genetic and epigenetic mechanisms in the development of congenital heart diseases | World Journal of Pediatric Surgery

  https://wjps.bmj.com/content/4/2/e000196

  The interactions at multiple levels provide insights of the combinatorial regulation into the morphogenesis of heart and suggest they can partially compensate each others function. Phenotypic heterogeneity and incomplete penetrance of CHD complicate our understanding of the interactions between genetics and epigenetics in CHD. Future studies to focus on elucidating the epigenetic signals of genes associated with cardiac development pathways could throw light on the genetic and epigenetic mechanisms in the development of CHD.

• #1

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  Congenital heart disease occurs in 8 children for every 1000 liveborns. Out of these 50% are significant in the sense that they produce haemodynamic effects. The classification of congenital heart diseases is shown in Table 1. This article will focus on the pathophysiology of some of the commonly encountered congenital heart defects. […] The commonest physiology that is seen in patients with congenital heart disease is left to right shunts. A physiological left to right shunt is when oxygenated blood returns back to the lungs to get re-oxygenated. This creates a redundancy in the circulation. In patients with left to right shunt, there is an increased venous return from the lungs via the pulmonary veins to the left atrium and the left ventricle (LV). This creates a volume overload on the LV. Thus, in a left to right shunt there is a volume overload to the LV, pulmonary circulation and a decreased systemic cardiac output.

• #1

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  The physiological alterations associated with left to right shunt lesions at the ventricular or great artery level are determined principally by the size of the defect and the post-natal changes in systemic (SVR) and pulmonary (PVR) vascular resistances. […] With continued left to right shunting of blood, there is damage to the pulmonary vasculature ultimately causing hyperplasia of the vessel walls and pulmonary hypertension. […] Irreversible pulmonary hypertension indicates that the elevated resistance is secondary to changes in the vessel wall (Heath Edward Class III or greater). […] In an ASD, there is a left to right shunt at the atrial level. This results in dilatation of right atrium and right ventricle with increased pulmonary venous return to the left atrium. […] In VSD, there is a left to right shunt across the ventricular level. This shunting occurs during systole and blood from LV is ejected in systole to the pulmonary circulation and causes a volume overload to the left atrium and the LV.

• #1

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  In a PDA, there is a left to right shunt during systole and diastole from the aorta to the pulmonary artery. […] In truncus arteriosus, the pulmonary arteries are connected to the aorta. A decrease in PVR at birth causes a left to right shunt with evidence of congestive heart failure. […] In this condition, the pulmonary venous return is to the right heart. There is complete mixing of blue and red blood. […] In a Tetrology of Fallot, due to presence of RV outflow tract obstruction, there is a right to left shunt across the large non-restricted VSD. […] In transposition of great arteries there is ventriculo-arterial discordance; RV connected to aorta and LV to pulmonary artery. This creates a parallel circulation in contrast to a normal series circulation. […] In a patient with DORV depending on the relationship of the great arteries and the VSD, there can be manifestation of one of the 3 physiology: VSD physiology with left to right shunt and congestive heart failure, Tet physiology in the face of pulmonary stenosis causing paucity of pulmonary blood flow causing cyanosis, or a transposition physiology causing cyanosis with congestive heart failure.

• #1 Complex adult congenital heart disease on cross-sectional imaging: an introductory overview | Insights into Imaging | Full Text

  https://insightsimaging.springeropen.com/articles/10.1186/s13244-022-01201-y

  The pathogenesis in repaired complex ACHD is multifactorial. Mechanical disruption of the valvular or cardiac endothelium due to surgery and the resultant altered flow haemodynamics can trigger the beginning of a significant inflammatory cascade. This response results in the production of inflammatory cytokines, which facilitates bacterial adherence and triggers an immune response. Furthermore, endothelial inflammation activates integrin expression on endothelial cells. Integrins bind circulating fibronectin and promote adhesion of circulating staphylococci. Eventually, vegetation fragments of damaged endothelium can break off and embolise to the lungs and systemic circulation if a residual intracardiac shunt is present.

• #1 Pathophysiology and Pharmacotherapy of Adult Congenital Heart Disease | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-319-15961-4_59

  Major technical advances in the medical and surgical therapy for congenital heart defects (CHD) over the last 40 years have allowed the majority of infants born with CHD to survive to adulthood. […] One of the principal predictors of long-term outcomes in patients with both palliated and unpalliated CHD is the state of the pulmonary vasculature and the presence or absence of pulmonary vascular disease. […] Over the past two decades, there have been dramatic strides in the understanding of the pathophysiology of pulmonary vascular disease, and this improved understanding has permitted the development of targeted drug therapies for pulmonary hypertension. […] This chapter will provide a basic overview of the pathophysiology of PAH-CHD and review the current evidence-based pharmacotherapy for this population of patients.

• #1 Clinical Presentation of Adults With Congenital Heart Disease – Clinical Tree

  https://clinicalpub.com/clinical-presentation-of-adults-with-congenital-heart-disease/

  Congenital heart disease refers to any heart defect present at birth. The etiology of such defects is multifactorial, with environmental and genetic factors playing important roles. […] Many cases have no identifiable cause and are generally assumed to be due to complex multifactorial genetic influences. Among adult patients with congenital heart disease, symptoms and clinical trajectory can vary dramatically on the basis of type and severity of the underlying condition. […] It is rare for cyanotic heart conditions to be diagnosed in adulthood, and when this occurs, it is typically due to lack of access to medical care. […] Chronic overload of the pulmonary circulation due to acyanotic congenital heart defects, including VSD, atrial septal defect (ASD), and patent ductus arteriosus (PDA), can result in arterial remodeling and a gradual increase in the pulmonary vascular resistance, which results in severe pulmonary hypertension.

• #1 Congenital heart disease in adults – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456

  Congenital heart disease is one or more problems with the heart’s structure that are present at birth. […] Some types of congenital heart disease may be mild. Others may cause life-threatening complications. […] Researchers aren’t sure what causes most types of congenital heart disease. They think that gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role. […] Complications of congenital heart disease may occur years after the heart condition is treated. […] Complications of congenital heart disease in adults include: Irregular heartbeats, called arrhythmias. Scar tissue in the heart from surgeries to fix a congenital heart condition can lead to changes in heart signaling. […] High blood pressure in the lung arteries, called pulmonary hypertension. Some heart conditions present at birth send more blood to the lungs, causing pressure to build. […] Heart failure. The heart can’t pump enough blood to meet the body’s needs.

• #1 Types of Adult Congenital Heart Disease | NYU Langone Health

  https://nyulangone.org/conditions/adult-congenital-heart-disease/types

  In adults, it is commonly associated with hypertension, or high blood pressure, and decreased blood flow to the lower extremities, causing leg cramps. […] This condition is frequently associated with a bicuspid aortic valve, which is a heart valve that has two leaflets, or flaps, instead of three. […] In people with Ebsteins anomaly, the tricuspid valve is abnormally developed, preventing this heart valve from closing properly and causing blood to leak backward from the right ventricle into the right atrium. […] The backup of blood flow can cause the heart to enlarge, leading to heart failure. […] Adults with the Fontan circulation can develop heart rhythm disorders, blood clots, heart failure, or liver disease.

• #1 The Profile of an Adult with Congenital Heart Disease

  https://clinmedjournals.org/articles/ijcc/international-journal-of-clinical-cardiology-ijcc-5-131.php?jid=ijcc

  The current ACHD population is derived from two groups: newly diagnosed or never diagnosed ACHDs and ACHDs who underwent surgery in childhood or adolescence. […] The growing population of ACHDs has increased the number of HF hospitalizations over the last decade. […] In summary, ACHDs are a constantly growing population due to the success of pediatric cardiovascular surgery, improved health care and childhood survival.

• #1 The Profile of an Adult with Congenital Heart Disease

  https://clinmedjournals.org/articles/ijcc/international-journal-of-clinical-cardiology-ijcc-5-131.php?jid=ijcc

  Congenital heart disease is the most frequent malformation. […] Great strides in pediatric cardiovascular surgery have increased the number of survivors, especially in adulthood. […] The adult’s postoperative heart is not a natural heart, it is a transformed, „neo-formed”, heart. […] A new specialist profile is necessary. […] The special needs of this population are very costly for health systems. […] The first paradigm that should be broken is to understand that cardiovascular surgery is restorative (it substantially improves the hemodynamic condition), but is not 100% curative, except for a few simple CHD exceptions. […] The origin of HF is multifactorial in both repaired and unrepaired hearts. […] Cardiologists who are experts in ACHD not only thoroughly understand the native heart disease, along with its natural evolution in childhood and adulthood, but also understand, and should keep up to date on, a wide variety of complex surgical techniques used for repairing CHD.

• #1 Adult Congenital Heart Disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3400517/

  Adult congenital heart disease can fall through the cracks of our medical system as these patients should receive their care is problematic. Many pediatric cardiologists in children’s hospitals do not see patients over the age of 18, while many adult cardiology programs do not provide adequate training in the diagnosis and management of adult congenital heart disease. It is difficult for adults to obtain care in the settings where most pediatric cardiologists practice, namely children’s hospitals. The special needs of adult congenital heart patients are also not well addressed by adult institutions, which are dominated by acquired heart disease, particularly coronary artery disease. It is important to have a good understanding of the congenital defects that present in adulthood and how to diagnose, treat, and follow these patients appropriately as adults.

• #1 Adult Congenital Heart Disease

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3400517/

  It is important to understand the congenital heart defects that present in adulthood. Patients with adult congenital heart disease fall through the cracks of our medical system and are often undiagnosed or misdiagnosed as adults. Almost all forms of adult congenital heart disease can be treated with surgery or with catheterization interventional procedures. The results are excellent, but long-term follow-up is mandatory.

• #1 New Insights into Mechanisms Underlying Congenital Heart Disease | Stanford Cardiovascular Institute | Stanford Medicine

  https://med.stanford.edu/cvi/mission/news_center/articles_announcements/new-insights-into-mechanisms-underlying-congenital-heart-disease.html

  New Insights into Mechanisms Underlying Congenital Heart Disease […] Congenital heart disease (CHD) is characterized by problems with the heart or local vasculature that are present at birth. Abnormalities in the structure of the heart or its proximal veins and arteries can reduce or misdirect blood flow and therefore disrupt circulation. Approximately 25% of children with congenital heart disease need surgery or other invasive procedures before the age of one. Furthermore, many individuals with congenital heart disease must manage their condition well into adulthood. Because these problems arise so early during development, before an individual is even born, they are extremely hard to study. […] Recently, a team of researchers at the Stanford Cardiovascular Institute have gained important insights into the mechanisms underlying this challenging disease. Led by co-first authors Tomoya Kitani, MD, PhD, Lei Tian, PhD, and Tiejun Zhang, PhD, as well as senior author Joseph C. Wu, MD, PhD, they investigated congenital heart disease by studying gene expression in human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) generated from 5 patients with single ventricle disease (SVD), 5 patients with tetralogy of Fallot (TOF), and 5 healthy individuals (non-CHD). Using RNA-seq, a method of measuring gene expression through RNA levels, they discovered which genes were abnormally expressed in the cardiomyocytes of two different congenital heart disease patient populations.

• #1 New Insights into Mechanisms Underlying Congenital Heart Disease | Stanford Cardiovascular Institute | Stanford Medicine

  https://med.stanford.edu/cvi/mission/news_center/articles_announcements/new-insights-into-mechanisms-underlying-congenital-heart-disease.html

  Their findings, recently published in Circulation Research, determined that over 900 genes were differentially expressed in iPSC-CMs derived from patients with CHD compared to iPSC-CMs derived from healthy patients. On one hand, our results suggest the existence of the intrinsic abnormalities of cardiomyocytes in CHD patients. On the other hand, we found the transcriptomic changes in single ventricle disease patients are much larger than those in tetralogy of Fallot patients. This reflects a difference in the magnitude of abnormal cardiomyocytes involved in the disease pathogenesis in each CHD subtype. Dr. Lei Tian added. One insight into the underlying mechanisms of this dysregulation is that many of the abnormally expressed genes, in both groups of patient-derived cells, are involved with cardiac development. Future work will focus on finding which of the specific pathways and mechanisms implicated by this study may be most relevant for congenital heart disease therapies.

• #1 Adult Congenital Heart Disease (ACHD) | Revista Médica Clínica Las Condes

  https://www.elsevier.es/es-revista-atencion-primaria-27-articulo-adult-congenital-heart-disease-achd–S0716864022000542

  Specialized multidisciplinary care is also required by females with congenital heart disease who present during pregnancy. […] During this state, a series of profound physiologic changes of the circulation occur, including increased metabolic demands, increase in total circulating volume, decrease in systemic vascular resistance, fluid retention and weight gain. […] These can have negative effects on cardiac function and result in significant morbidity for the mother and the fetus including cardiac arrhythmias and thromboembolic complications. […] Therefore, these patients require close monitoring during their pregnancy including close assessment of the fetus for congenital heart disease. […] Adults with congenital heart disease (ACHD) present along a wide anatomical and pathophysiological spectrum. […] As the prevalence of ACHD continues to grow, there is an increasing need for a clear transition process, specialized providers, and coordination among members of a multidisciplinary team to manage these complex patients.

• #1 Gladstone Scientists Identify Genetic Mechanism Linked to Congenital Heart Disease | UC San Francisco

  https://www.ucsf.edu/news/2012/01/98514/gladstone-scientists-identify-genetic-mechanism-linked-congenital-heart-disease

  Scientists at the Gladstone Institutes have identified a finely tuned mechanism by which fetal heart muscle develops into a healthy and fully formed beating heart offering new insight into the genetic causes of congenital heart disease and opening the door to one day developing therapies to fight this chronic and potentially fatal disorder. […] This research highlights the emerging importance of a biological process called epigenetics, in which a genetic change that is inherited by a cell or organism early during development has long-term consequences. Epigenetics is of particular interest in heart development, as the incorrect activation of genes in fetal development can lead to congenital heart disease into adulthood. […] An understanding of the epigenetic regulation of heart development could someday bring us closer to improving the lives of these individuals. […] This breakthrough may help researchers improve their understanding of the genetic causes of congenital heart disease while also pointing the way to potential therapies.

• #2 Adult Congenital Heart Disease (ACHD) | Revista Médica Clínica Las Condes

  https://www.elsevier.es/es-revista-atencion-primaria-27-articulo-adult-congenital-heart-disease-achd–S0716864022000542

  With advances in the medical field from fetal diagnosis to early complete repair and improved post-operative care significant improvement in survival has been achieved, allowing 97% of CHD patients to reach adulthood. […] As a consequence, currently there are more adults than children with congenital heart disease. […] It is estimated that there are more than 2 million adults with congenital heart disease in the United States and this number is increasing by about 5% every year. […] With increased survival and experience, it has become clear that congenital heart disease is a lifelong condition associated with multiple complex health care needs. […] However, this population faces multiple barriers to receiving optimum care. […] Although the heterogeneity of this condition underscores the importance of continued follow up, access remains an elusive goal, considering that many patients are affected by poor insurance coverage, lack of experts in this field, and geographical barriers.

• #2 Congenital heart disease in adults – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456

  Congenital heart disease is one or more problems with the heart’s structure that are present at birth. […] Some types of congenital heart disease may be mild. Others may cause life-threatening complications. […] Researchers aren’t sure what causes most types of congenital heart disease. They think that gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role. […] Complications of congenital heart disease may occur years after the heart condition is treated. […] Complications of congenital heart disease in adults include: Irregular heartbeats, called arrhythmias. Scar tissue in the heart from surgeries to fix a congenital heart condition can lead to changes in heart signaling. […] High blood pressure in the lung arteries, called pulmonary hypertension. Some heart conditions present at birth send more blood to the lungs, causing pressure to build. […] Heart failure. The heart can’t pump enough blood to meet the body’s needs.

• #2 From ECG to Imaging: Challenges in the Diagnosis of Adult Congenital Heart Diseases

  https://www.mdpi.com/2077-0383/13/16/4865

  Congenital heart diseases (CHD) are one of the most common birth defects and the main leading cause of death in children. Understanding the etiology of CHD remains important for patient clinical management. Both genetic and environmental factors are involved in the development and progression of CHD. Variations in many different genes and chromosomal anomalies can be associated with CHD, by expression of different mechanisms. The etiology is multifactorial, including genetic and environmental contributors. However, in 60% of cases of CHD, the etiology is unknown. Many studies estimated that more than 400 genes are linked to CHD. The main genetic changes associated with CHD are mutations in genes encoding transcription factors and cell signaling transducers that interfere with cell-type specification and differentiation, causing alterations related to the structure and function of the heart. Genetic involvement has an important role in the early morphogenesis of cardiac structures. In Ebstein’s anomaly, duplication of the 15q chromosome affects the formation of the tricuspid valve, leading to abnormal apically displaced leaflets. The diagnosis of CHD can be challenging, requiring physical examination and multiple paraclinical investigations. Patients with CHD may develop cardiac complications such as arrhythmias, heart failure, and valve insufficiency, even after surgical correction of the structural abnormalities. Most congenital heart defects are not curable and require lifelong specialized care. Early diagnosis and adequate treatment are mandatory to avoid possible complications of CHD, and thus, ECG, as well as imaging techniques, are important diagnostic tools. However, patients with CHD need a special healthcare team for the entire monitorization in various life stages.

• #2

  https://www.nhs.uk/conditions/congenital-heart-disease/causes/

  The increased risk is thought to be caused by high levels of the hormone insulin in the blood, which may interfere with the normal development of a foetus. […] If a pregnant woman drinks too much alcohol during pregnancy, it can have a poisonous effect on the tissue of the foetus. […] Children with foetal alcohol spectrum disorder can have congenital heart disease, such as atrial or ventricular septal defects. […] A rubella infection can cause multiple birth defects, including congenital heart disease. […] Women who get flu during the first trimester (3 months) of pregnancy are at greater risk of having a baby with congenital heart disease than the general population. […] There are several medicines linked to an increased risk of a baby being born with congenital heart disease. […] Pregnant mothers with PKU who don’t do this are more likely to give birth to a baby with congenital heart disease than the general population. […] Women who are exposed to some organic solvents may be more likely to give birth to a baby with congenital heart disease than the general population.

• #2 Researchers find genetic mechanism linked to congenital heart disease

  https://medicalxpress.com/news/2012-01-genetic-mechanism-linked-congenital-heart.html

  Scientists at the Gladstone Institutes have identified a finely tuned mechanism by which fetal heart muscle develops into a healthy and fully formed beating heart—offering new insight into the genetic causes of congenital heart disease and opening the door to one day developing therapies to fight this chronic and potentially fatal disorder. […] This research highlights the emerging importance of a biological process called „epigenetics,” in which a genetic change that is inherited by a cell or organism early during development has long-term consequences. Epigenetics is of particular interest in heart development, as the incorrect activation of genes in fetal development can lead to congenital heart disease into adulthood. […] An understanding of the epigenetic regulation of heart development could someday bring us closer to improving the lives of these individuals. […] This breakthrough may help researchers improve their understanding of the genetic causes of congenital heart disease while also pointing the way to potential therapies.

• #2 Pulmonary arterial hypertension associated with congenital heart disease: classification and pathophysiology | Journal of Congenital Cardiology | Full Text

  https://jcongenitalcardiology.biomedcentral.com/articles/10.1186/s40949-020-00040-0

  While the development of pulmonary arterial hypertension is not uncommon in adult congenital heart disease patients, other forms of pulmonary hypertension (PH) may also be present. […] A good understanding of PH classification is therefore vital for clinicians managing adult patients with congenital heart disease. […] Pulmonary arterial hypertension (PAH) is not uncommon within the adult congenital heart disease (CHD) population, with estimates of prevalence ranging between 4.228%. […] Health care professionals who manage adult CHD patients, therefore, require in-depth understanding of the classification of PH in general and of the more detailed classification of PAH associated with CHD. […] The precise form of PH impacts significantly not only on the optimal treatment, but also on prognosis. […] A good understanding of the general classification of PH and of the more detailed approaches to classifying PAH-CHD is vital for clinicians managing adult patients with congenital heart disease.

• #2 Congenital Heart Disease – Cardiovascular Pathophysiology for Pre-Clinical Students

  https://pressbooks.lib.vt.edu/cardiovascularpathophysiology/chapter/chapter-6-congenital-heart-disease/

  ASDs allow blood flow between the atria. As the pressure in the left atria is higher than that in the left, blood flows from left to right. This causes volume overload of the right side of the heart. This excessive load may lead to right ventricular compliance being reduced as remodeling takes place. The reduced compliance can elevate right-side pressure and thereby reduce the left-right shunt. […] The manifestations of a VSD depend on the VSD size and the relative resistance of the pulmonary and systemic circulations—all of which will determine the direction of blood flow. […] The diminished lumen causes increased afterload on the left ventricle. […] The high resistance of the stenosed pulmonic valve causes the blood in the right ventricle to exit through VSD and enter the left ventricle forming a right-left shunt, bypassing the pulmonary circulation. Consequently, blood with venous PO2 enters the systemic circulation and hypoxemia/cyanosis results. The degree of hypoxemia/cyanosis that occurs depends on the degree of pulmonic stenosis.

• #2 Types of Adult Congenital Heart Disease | NYU Langone Health

  https://nyulangone.org/conditions/adult-congenital-heart-disease/types

  The heart may not develop properly, preventing blood from flowing normally through or from the heart. […] Other conditions affect the hearts chambers or the veins or arteries that connect the heart and lungs. […] There are several types of congenital heart defects that are more likely than others to be diagnosed or managed during adulthood. […] They include atrial septal defect, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot, patent ductus arteriosus, coarctation of the aorta, Ebsteins anomaly, and single ventricle defects and the Fontan circulation. […] Atrial septal defects can lead to heart failure, when the heart doesnt pump enough blood to the body, or a defect can cause a clot to pass through the hole, leading to a stroke. […] Rarely, untreated atrial septal defects can lead to pulmonary hypertension, which is elevated blood pressures in the lungs, and Eisenmenger syndrome.

• #2 Types of Adult Congenital Heart Disease | NYU Langone Health

  https://nyulangone.org/conditions/adult-congenital-heart-disease/types

  Over time, this heart defect can cause the left side of the heart to enlarge. […] In some adults, large ventricular septal defects can cause a reversal of blood flow that bypasses the lungs, leading to Eisenmenger syndrome. […] Pulmonary stenosis is a narrowing of the pulmonary valve, or an area near the pulmonary valve, that prevents blood from flowing to the lungs. […] Most people have repairs for this condition in childhood. […] Sometimes, these repairs can lead to a leaky pulmonary valve in adulthood. […] Other problems may include heart failure and heart rhythm disorders. […] Left open, a large patent ductus arteriosus may lead to heart failure, pulmonary hypertension, or Eisenmenger syndrome. […] Coarctation of the aorta is a narrowing of a portion of the longest artery in the body.

• #2 Congenital Heart Disease – Cardiovascular Pathophysiology for Pre-Clinical Students

  https://pressbooks.lib.vt.edu/cardiovascularpathophysiology/chapter/chapter-6-congenital-heart-disease/

  The placement of the pulmonary artery on the left means left ventricular blood is pumped up to pulmonary circulation, only to return to the left side of the heart via the pulmonary veins. Similarly, the aorta on the right forms a closed-system with the right ventricle pumping into the systemic circulation, only for it to return to the right atrium via the vena cava. […] The malformed valves allow regurgitation, and the unrestricted interventricular communication allow a profound left-right shunt. This leads to volume overload in the pulmonary circulation, and heart failure will be produced if there is no correction. Pulmonary artery hypertension (PAH) and premature development of pulmonary vascular obstructive disease are other common outcomes. […] The underlying issues with TA are 1) mixing of blood from the left (saturated) and right heart (unsaturated), and 2) the common valve can allow regurgitation.

• #2 Clinical Presentation of Adults With Congenital Heart Disease – Clinical Tree

  https://clinicalpub.com/clinical-presentation-of-adults-with-congenital-heart-disease/

  This condition is difficult to treat with surgical correction of the underlying defect because severe and chronic pulmonary hypertension is often a contraindication to corrective surgery. […] Congenital heart defects that result in left-to-right shunting in the absence of hypoxemia are much more likely to allow survival into adulthood without clinical detection. […] VSD is typically diagnosed early in life due to the significant amount of turbulence causing an audible murmur on auscultation. […] PDA is a third form of acyanotic heart defect that can lead to persistent left-to-right shunting and overload of the pulmonary circulation.

• #2

  https://www.nhs.uk/conditions/congenital-heart-disease/complications/

  Children and adults with congenital heart disease are at an increased risk of developing further problems. […] People with congenital heart disease also have an increased risk of developing endocarditis. This is an infection of the lining of the heart and valves, or both. […] Some types of congenital heart disease can cause the blood pressure inside the arteries that connect the heart and lungs to be much higher than it should be. This is known as pulmonary hypertension. […] Children and adults with congenital heart disease are at risk of developing different types of heart rhythm problems. […] Heart failure is where the heart can’t pump enough blood around the body to meet the body’s needs. […] Having a history of congenital heart disease can also increase the risk of a blood clot forming inside the heart and travelling up to the lungs or brain.

• #2

  https://journals.lww.com/aoca/fulltext/2007/10010/pathophysiology_of_congenital_heart_diseases.2.aspx

  In a patient with Fontan repair, the IVC and SVC blood is directed passively to the pulmonary circulation. The only source of blue blood to the systemic circulation is from the coronary sinus. […] In conclusion, there is a complex cardiac and respiratory physiology that is created by congenital heart disease. An understanding of the pathophysiology is extremely important for safe anaesthetic management of these patients.

• #2 Adult Congenital Heart Disease > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/adult-congenital-heart-disease

  If you are an adult with congenital heart diseasea problem with the hearts structure or function that is present at birthyour chances for an active, healthy life are better than ever. […] But while childhood surgeries and other treatments are making a significant difference, they dont cure adult congenital heart disease. […] One of his goals is to help patients make a smooth transition from pediatric to adult care. […] Those who dont receive ongoing, uninterrupted care for this type of heart condition are at increased risk for developing a complication and needing an urgent intervention, such as heart catheterization or surgery. […] Congenital heart defects (as a whole) represent the most common type of birth defect. […] These are defects that can change the normal flow of blood through the heart, and/or affect how a heart will develop and function throughout a persons life.

• #2 Adult Congenital Heart Disease (ACHD) | Revista Médica Clínica Las Condes

  https://www.elsevier.es/es-revista-atencion-primaria-27-articulo-adult-congenital-heart-disease-achd–S0716864022000542

  In addition, the lack of well-established registries and studies focusing on this patient population and their needs further complicates the scenario. […] A recent study has highlighted that only one tenth of patients with adult congenital heart disease (ACHD) are managed at an accredited ACHD center and only a small percentage of these patients adhere to annual follow-up and imaging recommendations. […] Moreover, with increased longevity it has become apparent that patients with ACHD require specialized management when confronted with even routine non cardiac related interventions. […] Due to complex physiology and frequent residual hemodynamic burden, even simple non cardiac surgeries like appendectomy require management by a multidisciplinary team of specialized providers, including anesthesiologists, cardiologists, and cardiac intensivists with expertise in congenital heart disease.

• #3 Genetic and epigenetic mechanisms in the development of congenital heart diseases | World Journal of Pediatric Surgery

  https://wjps.bmj.com/content/4/2/e000196

  Congenital heart disease (CHD) is the most common of congenital cardiovascular malformations associated with birth defects, and it results in significant morbidity and mortality worldwide. The classification of CHD is still elusive owing to the complex pathogenesis of CHD. Advances in molecular medicine have revealed the genetic basis of some heart anomalies. Genes associated with CHD might be modulated by various epigenetic factors. Thus, the genetic and epigenetic factors are gradually accepted as important triggers in the pathogenesis of CHD. […] Despite the rapid advances in medical care and detection technology, the etiology of most CHD remains poorly understood. It is therefore imperative to improve our understanding of the disease mechanisms to reduce the frequent occurrence of CHD. During the past decades a consensus has emerged that both genetic (eg, chromosomal abnormalities, smaller copy number variants and point mutations) and environmental (extrinsic factors, such as teratogen exposure and nutrient deficiencies; intrinsic factors, including maternal disease, illness and viral infection) factors are related to the occurrence of CHD.

• #3 Adult Congenital Heart Disease | Thoracic Key

  https://thoracickey.com/adult-congenital-heart-disease-15/

  Adult Congenital Heart Disease arises from abnormal cardiovascular development during embryogenesis or in the transition to postnatal circulation. […] An understanding of cardiac morphogenesis is necessary to understand the anatomic and pathophysiologic consequences of individual defects and corrective or palliative treatment options. […] CHD is felt to arise from the interaction of multiple complex factors, and approximately only 15% has been linked to inherited or de novo genetic mutations. […] Environmental and maternal factors are also important, and risk factors for CHD in the offspring include: maternal chronic or gestational diseases, maternal medical illness, exposure to teratogenic medications or toxins in utero, and exposure to various environmental factors. […] As a child with CHD progresses into adulthood, the development of sequelae from their native CHD or surgical intervention, in addition to acquired comorbidities, including hypertension, hyperlipidemia, obesity, and coronary disease, may exacerbate the physiologic regulatory mechanisms of CHD, ultimately affecting overall health and quality of life.

• #3 Adult Congenital Heart Disease: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16891-heart-disease-adult-congenital-heart-disease

  The signs and symptoms of ACHD vary depending on: Age, Number of heart defects, Severity of the heart disease, Type of ACHD. […] ACHD treatment depends on the type and severity of the condition and may include: Medications, Implantable heart devices, Cardiac catheterization, Surgery, Heart transplant. […] ACHD may lead to complications, including: Arrhythmia, Endocarditis, Heart failure (congestive heart failure), Pulmonary hypertension, Stroke. […] If you have ACHD, your outlook depends on the type of congenital heart disease, its severity and the treatment.

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