Materiały źródłowe

• #1 Ebstein’s Anomaly | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/ebsteins-anomaly

  In some cases, Ebstein’s anomaly has been associated with lithium exposure, but in most cases the cause is unknown. […] Ebstein’s anomaly is a rare heart defect that affects the tricuspid valve. […] About one in 10,000 babies is born with this condition.

• #2 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Ebstein anomaly is a rare heart defect, comprising less than 1% of all congenital heart issues. It happens in less than 1 in every 10,000 live births. While some instances are familial and inherited, most cases are spontaneous with no known cause. Etiology of the condition may be multifactorial, potentially involving environmental exposures and genetic predisposition. […] Some studies have shown a possible link between the use of certain medications during pregnancy and the development of Ebstein’s Anomaly in the baby. […] Studies have linked the anomaly with several gene mutations, including: Duplications in chromosome 15q. Rearrangements in chromosome 11q. Mutations in the MYH7 gene are associated with cardiomyopathies. Mutations in the NKX2-5 gene, a cardiac transcription factor that links atrial septal defects and atrioventricular conduction defects. […] Those with Ebsteins anomaly due to mutations of the MYH7 gene stand a 50% chance of passing the condition on to their children. The MYH7 gene mutation is inherited as an autosomal dominant trait. Women are 10 times more likely than men to pass the condition on to their offspring.

• #3 Ebstein anomaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ebstein-anomaly?lang=us

  Ebstein anomaly is an uncommon congenital cardiac anomaly, characterized by a variable developmental anomaly of the tricuspid valve. […] The anomaly accounts for only ~0.5% of congenital cardiac defects, although it is the most common cause of congenital tricuspid regurgitation. […] an association with maternal lithium carbonate injection has been postulated. […] The main abnormality is an abnormal tricuspid valve (particularly septal and posterior leaflets), which is displaced apically into the right ventricle, resulting in atrialization of the parts of the ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating from each other, or from the chordae tendineae from the inferior portion of the ventricle, during embryologic development. […] Severity is related to the amount of RVOT dysfunction and tricuspid regurgitation.

• #4 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #5 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Ebstein anomaly is a rare heart defect, comprising less than 1% of all congenital heart issues. It happens in less than 1 in every 10,000 live births. While some instances are familial and inherited, most cases are spontaneous with no known cause. Etiology of the condition may be multifactorial, potentially involving environmental exposures and genetic predisposition. […] Some studies have shown a possible link between the use of certain medications during pregnancy and the development of Ebstein’s Anomaly in the baby. […] Studies have linked the anomaly with several gene mutations, including: Duplications in chromosome 15q. Rearrangements in chromosome 11q. Mutations in the MYH7 gene are associated with cardiomyopathies. Mutations in the NKX2-5 gene, a cardiac transcription factor that links atrial septal defects and atrioventricular conduction defects. […] Those with Ebsteins anomaly due to mutations of the MYH7 gene stand a 50% chance of passing the condition on to their children. The MYH7 gene mutation is inherited as an autosomal dominant trait. Women are 10 times more likely than men to pass the condition on to their offspring.

• #6 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #7 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Ebstein anomaly is a rare heart defect, comprising less than 1% of all congenital heart issues. It happens in less than 1 in every 10,000 live births. While some instances are familial and inherited, most cases are spontaneous with no known cause. Etiology of the condition may be multifactorial, potentially involving environmental exposures and genetic predisposition. […] Some studies have shown a possible link between the use of certain medications during pregnancy and the development of Ebstein’s Anomaly in the baby. […] Studies have linked the anomaly with several gene mutations, including: Duplications in chromosome 15q. Rearrangements in chromosome 11q. Mutations in the MYH7 gene are associated with cardiomyopathies. Mutations in the NKX2-5 gene, a cardiac transcription factor that links atrial septal defects and atrioventricular conduction defects. […] Those with Ebsteins anomaly due to mutations of the MYH7 gene stand a 50% chance of passing the condition on to their children. The MYH7 gene mutation is inherited as an autosomal dominant trait. Women are 10 times more likely than men to pass the condition on to their offspring.

• #8 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #9 Ebstein Anomaly and Malformation – MD Searchlight

  https://mdsearchlight.com/heart-health/ebstein-anomaly-and-malformation/

  Ebstein anomaly is believed to be linked with certain changes in chromosome 15q during the development of the heart before birth. […] Some cases suggest that there might be a link between this condition and changes in chromosome 11q as well. […] Moreover, its been reported that this anomaly could be related to changes in the MYH7 gene, which is commonly connected to heart diseases. […] Ebstein anomaly can also be associated with alterations in the NKX2-5 gene. […] The medicine lithium, primarily used as a mood stabilizer, is known to have a negative impact on the development of the fetus, causing conditions like Ebstein anomaly. […] Additionally, Ebstein anomaly can be associated with a mothers exposure to certain types of drugs (benzodiazepines) and chemicals found in varnishing materials during pregnancy. […] Most of the time, theres no clear cause for this anomaly. […] However, some studies suggest it may be inherited in families, especially among identical twins.

• #10 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #11 Ebstein’s Anomaly: Genetics, Clinical Manifestations, and Management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/28017577/

  Ebstein’s anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others.

• #12 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/61991

  Distinct rearrangements of the chromosomal region 11q arm and deletion of 10p13p14 and 1p34.3p36.11 have also been described in association with EA. Genetic bases of this anomalies may be associated with the mutations in the genes MYH7 and NKX2.5 and among others. […] Moreover, heterozygous mutations of NKX2.5 have been identified in the EA cases accompanied by atrioventricular (AV) block, atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot or double-outlet RV, and other TV abnormalities.

• #13 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #14 Ebstein’s Anomaly: Genetics, Clinical Manifestations, and Management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/28017577/

  Ebstein’s anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others.

• #15 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Ebstein anomaly is a rare heart defect, comprising less than 1% of all congenital heart issues. It happens in less than 1 in every 10,000 live births. While some instances are familial and inherited, most cases are spontaneous with no known cause. Etiology of the condition may be multifactorial, potentially involving environmental exposures and genetic predisposition. […] Some studies have shown a possible link between the use of certain medications during pregnancy and the development of Ebstein’s Anomaly in the baby. […] Studies have linked the anomaly with several gene mutations, including: Duplications in chromosome 15q. Rearrangements in chromosome 11q. Mutations in the MYH7 gene are associated with cardiomyopathies. Mutations in the NKX2-5 gene, a cardiac transcription factor that links atrial septal defects and atrioventricular conduction defects. […] Those with Ebsteins anomaly due to mutations of the MYH7 gene stand a 50% chance of passing the condition on to their children. The MYH7 gene mutation is inherited as an autosomal dominant trait. Women are 10 times more likely than men to pass the condition on to their offspring.

• #16 Genetics of Ebstein Anomaly | Thoracic Key

  https://thoracickey.com/genetics-of-ebstein-anomaly/

  Ebstein anomaly (EA) is a rare etiologically heterogeneous congenital malformation of the tricuspid valve, accounting for less than 1 % of all congenital heart defects (CHDs) and for 0.30.8 % of all patients presenting with CHD in the first year of life. […] The role of teratogens in the etiology of EA has also been suggested, following the report of lithium therapy during the first trimester of pregnancy and the occurrence of EA in the fetus, although more recent case-control epidemiological studies have not confirmed these findings. […] The molecular etiology of Ebstein anomaly is largely unknown. Mutations in genes involved in the cardiac morphogenesis have been detected in a few patients with Ebstein anomaly, including mutations in NKX2.5 and MYH7 genes. Nevertheless, genetic heterogeneity and multifactorial inheritance are probably characteristics of Ebstein anomaly, since mutational screening of NKX2.5 and GATA4 genes in additional patients with Ebstein anomaly is negative.

• #17 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #18 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital disease of often uncertain cause. […] Environmental factors implicated in etiology include the following maternal factors: Maternal ingestion of lithium in first trimester of pregnancy, Maternal benzodiazepine use, Maternal exposure to varnishing substances, Maternal history of previous fetal loss. […] The risk of having Ebstein anomaly is higher in white persons than in other races.

• #19 Ebstein’s Anomaly – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/ebstein-s-anomaly/

  Ebsteins anomaly is a rare congenital heart defect affecting the tricuspid valve on the right side of the heart. […] The cause is not known. However, we do know there is a higher rate in twins and in people with other CHDs, as well as other genetic diseases. This includes CCTGA (congenitally corrected transposition of the great arteries). There is also an increased risk in women who took lithium during pregnancy.

• #20 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/61991

  Ebsteins anomaly (EA), a rare congenital heart disease, results from the failure of delamination of tricuspid valve (TV) leaflets from the endocardium of the right ventricle (RV) and apical displacement, particularly of the septal and posterior leaflets of TV. […] Most EA cases are sporadic; familial ones are rare. […] There are heterogeneous genetic factors in EA. Most cases are sporadic; familial ones are rare. Duplication of 15q affects the early morphogenesis of cardiac structures, including the normal formation of TV. Therefore, the gene located on the long arm (q) of chromosome 15 is likely to be involved in the development of EA. […] No specific cause has been consistently associated with EA. Based on retrospective case reporting, treatment with lithium during the first trimester of pregnancy was thought to be strongly associated, a 400-fold relative risk, with the occurrence of EA in the fetus. However, recent cohort and case-control epidemiologic studies have not confirmed these initial findings.

• #21 Genetics of Ebstein Anomaly | Thoracic Key

  https://thoracickey.com/genetics-of-ebstein-anomaly/

  Ebstein anomaly (EA) is a rare etiologically heterogeneous congenital malformation of the tricuspid valve, accounting for less than 1 % of all congenital heart defects (CHDs) and for 0.30.8 % of all patients presenting with CHD in the first year of life. […] The role of teratogens in the etiology of EA has also been suggested, following the report of lithium therapy during the first trimester of pregnancy and the occurrence of EA in the fetus, although more recent case-control epidemiological studies have not confirmed these findings. […] The molecular etiology of Ebstein anomaly is largely unknown. Mutations in genes involved in the cardiac morphogenesis have been detected in a few patients with Ebstein anomaly, including mutations in NKX2.5 and MYH7 genes. Nevertheless, genetic heterogeneity and multifactorial inheritance are probably characteristics of Ebstein anomaly, since mutational screening of NKX2.5 and GATA4 genes in additional patients with Ebstein anomaly is negative.

• #22 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #23 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital disease of often uncertain cause. […] Environmental factors implicated in etiology include the following maternal factors: Maternal ingestion of lithium in first trimester of pregnancy, Maternal benzodiazepine use, Maternal exposure to varnishing substances, Maternal history of previous fetal loss. […] The risk of having Ebstein anomaly is higher in white persons than in other races.

• #24 Ebstein anomaly

  https://sales-demo.adam.com/content.aspx?productid=617&pid=1&gid=007321

  Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people. […] The defect most often causes the valve to work poorly, and blood may go the wrong way. Instead of flowing out to the lungs, the blood flows back into the right atrium.

• #25 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. Mutations in NKX2-5 have also been associated with tetralogy of Fallot.[8][9] […] Another known association of Ebstein anomaly is the teratogenic effect of lithium. Case-control and cohort studies of pregnant women taking lithium in the 1970s and 1980s demonstrated a risk of Ebstein anomaly in 2% of their newborns.[10] Ebstein anomaly has also been associated with maternal exposure to benzodiazepines and varnishing materials.[7][11]

• #26 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital disease of often uncertain cause. […] Environmental factors implicated in etiology include the following maternal factors: Maternal ingestion of lithium in first trimester of pregnancy, Maternal benzodiazepine use, Maternal exposure to varnishing substances, Maternal history of previous fetal loss. […] The risk of having Ebstein anomaly is higher in white persons than in other races.

• #27 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital disease of often uncertain cause. […] Environmental factors implicated in etiology include the following maternal factors: Maternal ingestion of lithium in first trimester of pregnancy, Maternal benzodiazepine use, Maternal exposure to varnishing substances, Maternal history of previous fetal loss. […] The risk of having Ebstein anomaly is higher in white persons than in other races.

• #28 Everything You Need to Know About Ebstein Anomaly – BMB

  https://ckbirlahospitals.com/bmb/blog/everything-about-ebstein-anomaly

  Ebstein anomaly causes are not known as it is a congenital heart defect. However, various factors are contributing to the growth of this condition. Here are some of them: […] Genetic Factors: It plays a pivotal role as according to research it is found that there are cases of Ebstein anomaly in which congenital heart defects are linked to particular genetic mutations. […] Maternal Drug and Alcohol Use: The involvement in substances like drugs or alcohol during pregnancy enhances the risk of developing congenital heart defects including Ebsteins anomaly. Pregnant females need to stay away from such habits so that fetal growth is not interrupted. […] Maternal viral infections- In certain cases, this factor also plays an important role during pregnancy like rubella might enhance the risk of developing congenital heart defects along with Ebsteins anomaly.

• #29 Ebstein’s Anomaly Causes | Stanford Health Care

  https://stanfordhealthcare.org/medical-conditions/blood-heart-circulation/ebsteins-anomaly/causes.html

  Ebstein’s anomaly occurs due to improper development of the tricuspid valve in the first eight weeks of fetal growth. […] It can be caused by a number of factors, though, most of the time, this heart defect occurs sporadically (by chance), with no apparent reason for its development. […] Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families.

• #30 Ebstein’s Anomaly: Life Expectancy, Symptoms, Treatment

  https://www.emedicinehealth.com/how_long_do_people_with_ebsteins_anomaly_live/article_em.htm

  Ebsteins anomaly is congenital, which means it is present at birth. The tricuspid valve in the heart does not develop normally during the first eight weeks of fetal growth. The reason this occurs is unknown. […] Its also not known if certain risk factors could cause the defect. Risk factors that may play a role include: […] Genetic factors […] A family history of heart defects […] Environmental factors […] The mothers exposure to certain medications, such as lithium.

• #31 Ebstein Anomaly: causes, symptoms, diagnosis, and treatment – Medical insight

  https://angolodeldottorino.it/en/Medicine/Cardiology/Congenital_Heart_Diseases/Ebstein_Anomaly.php

  Ebstein anomaly is a rare congenital heart defect characterized by an abnormal adherence and apical displacement of the tricuspid valve leaflets into the right ventricle. […] A defect in this process can lead to abnormal delamination of the valve leaflets, resulting in their displacement towards the right ventricle. The main pathogenic mechanisms include defective delamination of the tricuspid valve, genetic mutations such as alterations in the NKX2.5 gene, and association with Wolff-Parkinson-White syndrome. Additionally, exposure to teratogenic drugs during pregnancy, such as lithium and thalidomide, has been linked to an increased risk of developing this anomaly.

• #32 Ebstein’s anomaly in children and adults: multidisciplinary insights into imaging and therapy | Heart

  https://heart.bmj.com/content/110/4/235

  Ebsteins anomaly (EA) is a congenital valvular and ventricular dysplasia of the right-sided heart, frequently associated with left-sided heart anomalies. EA results from incomplete delamination of the tricuspid valve (TV) from the right ventricular (RV) endocardium, which occurs between the 7th and 12th week of intrauterine life. […] Genetics and environmental factors supposed to be involved in EA pathogenesis are provided in online supplemental material (section A, table 1).

• #33 Ebstein’s Anomaly of the Tricuspid Valve | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/ebstein-s-anomaly-tricuspid-valve

  The cause of Ebstein’s anomaly is not known. […] In a child born with Ebstein’s anomaly, the tricuspid valve did not form properly while the baby was in the womb. […] With Ebstein’s anomaly, one or two of the three leaflets may be stuck to the walls of the right ventricle or the septum, which is the muscular wall between the heart’s left and right ventricles. […] The valve may be severely malformed, and the leaflets may be positioned lower than they should be.

• #34 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  Ebstein anomaly is a defect of the tricuspid valve. The tricuspid valve separates the right atrium (the chamber that receives blood from the body) from the right ventricle (the chamber that pumps blood to the lungs). […] In Ebstein anomaly, two leaflets of the tricuspid valve are not in the right place. The third leaflet is longer than normal. It may be tied to the wall of the ventricle. Rarely, the valve is so deformed that it will not allow blood to flow forward in the normal direction (right atrium to right ventricle). […] Ebstein anomaly may occur with other heart defects, such as pulmonary valve stenosis or atresia, atrial septal defect or ventricular septal defect. Many patients with Ebstein anomaly have an extra electrical conduction pathway in the heart. This can lead to times of abnormal fast heart rate called supraventricular tachycardia (this condition is known as Wolff-Parkinson-White syndrome).

• #35 Ebstein anomaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ebstein-anomaly?lang=us

  Ebstein anomaly is an uncommon congenital cardiac anomaly, characterized by a variable developmental anomaly of the tricuspid valve. […] The anomaly accounts for only ~0.5% of congenital cardiac defects, although it is the most common cause of congenital tricuspid regurgitation. […] an association with maternal lithium carbonate injection has been postulated. […] The main abnormality is an abnormal tricuspid valve (particularly septal and posterior leaflets), which is displaced apically into the right ventricle, resulting in atrialization of the parts of the ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating from each other, or from the chordae tendineae from the inferior portion of the ventricle, during embryologic development. […] Severity is related to the amount of RVOT dysfunction and tricuspid regurgitation.

• #36 Ebstein anomaly

  https://sales-demo.adam.com/content.aspx?productid=617&pid=1&gid=007321

  Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people. […] The defect most often causes the valve to work poorly, and blood may go the wrong way. Instead of flowing out to the lungs, the blood flows back into the right atrium.

• #37 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  Ebstein anomaly is a defect of the tricuspid valve. The tricuspid valve separates the right atrium (the chamber that receives blood from the body) from the right ventricle (the chamber that pumps blood to the lungs). […] In Ebstein anomaly, two leaflets of the tricuspid valve are not in the right place. The third leaflet is longer than normal. It may be tied to the wall of the ventricle. Rarely, the valve is so deformed that it will not allow blood to flow forward in the normal direction (right atrium to right ventricle). […] Ebstein anomaly may occur with other heart defects, such as pulmonary valve stenosis or atresia, atrial septal defect or ventricular septal defect. Many patients with Ebstein anomaly have an extra electrical conduction pathway in the heart. This can lead to times of abnormal fast heart rate called supraventricular tachycardia (this condition is known as Wolff-Parkinson-White syndrome).

• #38 A to Z: Ebstein’s Anomaly | Dayton Children’s Hospital

  https://www.childrensdayton.org/kidshealth/a/az-ebstein

  Ebstein’s anomaly is a rare congenital (present at birth) defect in the right side of the heart. The cause is unknown. […] Someone with Ebstein’s anomaly has a malformed (not formed correctly) and improperly positioned tricuspid valve. […] The condition is often associated with other heart defects, such as atrial septal defect (ASD), pulmonary (valve) stenosis, and abnormal heart rhythms (arrhythmias).

• #39 Ebstein Anomaly: Symptoms, Causes, Complications, Diagnosis, Treatment

  https://ghealth121.com/treatments/ebstein-anomaly/

  Notably, the anomaly is more common in males than females and can occur alongside other heart conditions, including: Atrial Septal Defect: A hole between the upper chambers of the heart. Arrhythmias: Irregular heartbeats that may complicate the condition. Wolff-Parkinson-White Syndrome: A condition characterized by an extra electrical pathway in the heart.

• #40 Ebstein Anomaly in an Asymptomatic Air Force Professional | Society for Cardiovascular Magnetic Resonance

  https://scmr.org/cases-of-scmr/number-11-22/

  Ebstein anomaly is a rare congenital disorder that occurs in approximately 1 out of every 200,000 live births and accounts for <1% of congenital heart disease. This disease is characterized by an apical displacement of the tricuspid leaflets (septal>posterior>anterior). This anomaly causes an atrialization of the right ventricle and can lead to cyanosis, tricuspid regurgitation, and right ventricular outflow tract (RVOT) obstruction or functional tricuspid stenosis. […] Ebstein is associated with many other cardiac defects and more than half of patients with Ebstein anomaly have atrial shunts, 25% have an accessory conduction pathway, and there is also an increased risk of ventricular septal defects and varying degrees of RVOT obstruction. […] While the overall prognosis for Ebstein anomaly is poor, most of the natural history trials were published prior to use of echocardiography and mainly included severe disease that was diagnosed as an infant. More recent data demonstrates that when Ebstein anomaly is initially diagnosed in adulthood, there are less associated cardiac defects, cyanosis is rare, and it is associated with a much lower mortality and morbidity. […] Ebstein anomaly remains a rare type of congenital heart disease with many associated cardiac defects.

• #41 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital disease of often uncertain cause. […] Environmental factors implicated in etiology include the following maternal factors: Maternal ingestion of lithium in first trimester of pregnancy, Maternal benzodiazepine use, Maternal exposure to varnishing substances, Maternal history of previous fetal loss. […] The risk of having Ebstein anomaly is higher in white persons than in other races.

• #42 Ebstein anomaly – UF Health

  https://ufhealth.org/conditions-and-treatments/ebstein-anomaly

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The condition is congenital, which means it is present at birth. […] Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people.

• #43 Ebstein anomaly Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/ebstein-anomaly

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. […] The condition is congenital, which means it is present at birth. […] Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people.

• #44 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  Ebsteins anomaly is a rare congenital heart condition. Congenital means that something is present at birth. An anomaly is something thats unexpected or unusual. Ebsteins anomaly affects the function of the tricuspid valve, which is one of four valves in your heart. […] Healthcare providers arent sure why Ebsteins anomaly occurs. Its probably caused by a combination of genetic and environmental factors, but the specific factors are unknown. […] Since healthcare providers dont know how Ebsteins anomaly develops, you cant prevent it.

• #45 Ebstein Anomaly | UH Rainbow Pediatric Heart Services | University Hospitals | University Hospitals

  https://www.uhhospitals.org/rainbow/services/congenital-heart/conditions-and-treatments/ebstein-anomaly

  Ebstein anomaly is a rare congenital heart defect meaning a baby is born with it that can range from mild to severe. […] Experts are unclear on what causes a baby to develop Ebstein anomaly in the womb. Most are caused by a chance error during the fetal development of the heart, without any apparent reason. Overall, Ebstein anomaly is very rare, occurring in about one in 10,000 babies.

• #46 Ebstein Anomaly – Kidshealth | Akron Children’s

  https://www.akronchildrens.org/kidshealth/en/parents/ebstein-anomaly.html

  Ebstein anomaly is a rare heart defect that affects the tricuspid valve (one of the heart’s four valves). It happens because of a problem with how the valve forms before a baby’s birth. […] Doctors don’t know exactly why a baby’s heart develops Ebstein anomaly during pregnancy. But it isn’t caused by anything a mother does or doesn’t do during her pregnancy. […] Most cases of Ebstein anomaly are due to an accidental error of growth during pregnancy. Some genetic links have been found, but most cases don’t have a known genetic cause.

• #47 Ebstein Anomaly

  https://www.rwjbh.org/treatment-care/heart-and-vascular-care/diseases-conditions/congenital-heart-disease/ebstein-anomaly/

  Ebstein anomaly is a rare congenital heart defect (present at birth). […] Doctors know that heart defects present at birth (congenital) arise from errors early in the heart’s development, but there’s often no clear cause.

• #48 Genetics of Ebstein Anomaly | Thoracic Key

  https://thoracickey.com/genetics-of-ebstein-anomaly/

  Lithium therapy during the first trimester of pregnancy was once thought to be strongly associated with the occurrence of EA in the fetus, basing on old series of retrospective case reports. However, more recent epidemiological studies have not confirmed these findings. […] Likely candidate genes for Ebstein anomaly include GATA4 (patients with del 8p23.1), NKX2.5 (published patients with isolated Ebstein anomaly), and MYH7 genes.

• #49 Genetics of Ebstein Anomaly | Thoracic Key

  https://thoracickey.com/genetics-of-ebstein-anomaly/

  Ebstein anomaly (EA) is a rare etiologically heterogeneous congenital malformation of the tricuspid valve, accounting for less than 1 % of all congenital heart defects (CHDs) and for 0.30.8 % of all patients presenting with CHD in the first year of life. […] The role of teratogens in the etiology of EA has also been suggested, following the report of lithium therapy during the first trimester of pregnancy and the occurrence of EA in the fetus, although more recent case-control epidemiological studies have not confirmed these findings. […] The molecular etiology of Ebstein anomaly is largely unknown. Mutations in genes involved in the cardiac morphogenesis have been detected in a few patients with Ebstein anomaly, including mutations in NKX2.5 and MYH7 genes. Nevertheless, genetic heterogeneity and multifactorial inheritance are probably characteristics of Ebstein anomaly, since mutational screening of NKX2.5 and GATA4 genes in additional patients with Ebstein anomaly is negative.

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