Grown-up Congenital Heart Disease (GUCH): Difference between revisions

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:: Muscular defects (type 4) are located within the trabecular septum and accounts for 5 – 20% of all VSDs. It is bordered only by muscle, away from the cardiac valves. Muscular defects can be small or large in size and consist of a single or multiple defects.
:: Muscular defects (type 4) are located within the trabecular septum and accounts for 5 – 20% of all VSDs. It is bordered only by muscle, away from the cardiac valves. Muscular defects can be small or large in size and consist of a single or multiple defects.


==== 1.2.4 Pathophysiology ====
==== Pathophysiology ====


The severity of the shunt across the VSD is determined by its size and the ratio of pulmonary to systemic vascular resistance. In small or restrictive VSDs the diameter of the defect is ≤25% of the aortic annulus diameter. These small defects cause small left to right shunts with no left ventricular overload or pulmonary hypertension.  
The severity of the shunt across the VSD is determined by its size and the ratio of pulmonary to systemic vascular resistance. In small or restrictive VSDs the diameter of the defect is ≤25% of the aortic annulus diameter. These small defects cause small left to right shunts with no left ventricular overload or pulmonary hypertension.  
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In large defects, defined as those with diameters equal or greater than 75% of the aortic annulus, there is no restriction of blood flow across the septum, leading to equal pressures in both right and left ventricle. The large left to right shunt initially only leads to excessive volume overload in the pulmonary arteries, left atrium and left ventricle. The chronic pressure and volume overload combined with the increase flow leads to irreversible changes of the pulmonary vasculature, which results in an increase in pulmonary vascular resistance. This increase in resistance leads to a reversal of the shunt through the VSD causing right to left shunt with cyanosis (Eisenmenger syndrome).
In large defects, defined as those with diameters equal or greater than 75% of the aortic annulus, there is no restriction of blood flow across the septum, leading to equal pressures in both right and left ventricle. The large left to right shunt initially only leads to excessive volume overload in the pulmonary arteries, left atrium and left ventricle. The chronic pressure and volume overload combined with the increase flow leads to irreversible changes of the pulmonary vasculature, which results in an increase in pulmonary vascular resistance. This increase in resistance leads to a reversal of the shunt through the VSD causing right to left shunt with cyanosis (Eisenmenger syndrome).


==== 1.2.5 Evaluation ====
==== Evaluation ====




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With echocardiography the localisation, size and hemodynamic influence of the VSD can be investigated. Dilatation of the left atrium and left ventricle might be present and the pressures in the pulmonary artery can be estimated by means of the tricuspid regurgitation. Invasive measurement by means of catheterization is only indicated when there is doubt about the shunt size and the pulmonary vascular resistance.
With echocardiography the localisation, size and hemodynamic influence of the VSD can be investigated. Dilatation of the left atrium and left ventricle might be present and the pressures in the pulmonary artery can be estimated by means of the tricuspid regurgitation. Invasive measurement by means of catheterization is only indicated when there is doubt about the shunt size and the pulmonary vascular resistance.


==== 1.2.6 Treatment ====
==== Treatment ====


Treatment and prognosis of a VSD depends on the size en localisation of the defect, the pulmonary vascular resistance and possible concomitant defects. Spontaneous closure occurs mainly in small defects, of which 75 percent closes before age 10. In patients with a small defect no pulmonary hypertension develops, however there is an increased risk of endocarditis.
Treatment and prognosis of a VSD depends on the size en localisation of the defect, the pulmonary vascular resistance and possible concomitant defects. Spontaneous closure occurs mainly in small defects, of which 75 percent closes before age 10. In patients with a small defect no pulmonary hypertension develops, however there is an increased risk of endocarditis.
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Medical treatment is reserved for (1) asymptomatic patients without evidence of left ventricular volume overload and (2) patients with symptoms and/or left ventricular volume overload who are not candidates for repair such as those with large defects and Eisenmenger syndrome.  
Repair of VSD has been historically performed surgically. However, percutaneous VSD repair has been growing given the desire of young adults to avoid surgery. Surgical and percutaneous VSD closure should be performed by surgeons and cardiologists with appropriate training and expertise.  




Medical treatment is reserved for (1) asymptomatic patients without evidence of left ventricular volume overload and (2) patients with symptoms and/or left ventricular volume overload who are not candidates for repair such as those with large defects and Eisenmenger syndrome.
Indications for closure of a VSD in an adult are included in the 2008 American College of Cardiology/American Heart Association (ACC/AHA) adult congenital heart disease guidelines as follows. Similar recommendations are included in the European Society of Cardiology and the Canadian Society of Cardiology guidelines.
* Closure of a VSD is indicated when there is a Qp/Qs ≥2 and clinical evidence of LV volume overload.
* Closure of a VSD is indicated when there is a Qp/Qs ≥2 and clinical evidence of LV volume overload.
* Closure of a VSD is indicated when the patient has a history of infective endocarditis.
* Closure of a VSD is indicated when the patient has a history of infective endocarditis.
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=== Case report ===  
=== Case report ===  
=== Introduction ===
=== Introduction ===
[[File:9. coarctatie.PNG|thumb|right|Figure 9. Schematic drawing of the anatomy prenatal (left) and postnatal (right) in coarctation of the aorta. In the normal situation (without coarctation) only 10 percent of the fetal cardiac output flows through the descending aorta. Therefore there are no hemodynamic consequences prenatal of coarctation of the aorta. In the postnatal situation, after closure of the ductus arteriosus, around 75% of cardiac output needs to pass the coarctation, leading to obstruction.]]
[[File:Figure 9. Schematic drawing of the anatomy prenatal and postnatal.png|thumb|right|Figure 9. Schematic drawing of the anatomy prenatal (left) and postnatal (right) in coarctation of the aorta. In the normal situation (without coarctation) only 10 percent of the fetal cardiac output flows through the descending aorta. Therefore there are no hemodynamic consequences prenatal of coarctation of the aorta. In the postnatal situation, after closure of the ductus arteriosus, around 75% of cardiac output needs to pass the coarctation, leading to obstruction.]]
Coarctation of the aorta is a narrowing of the thoracic aorta, typically located in the region of the obliterated ductus arteriosum. (Figure 9) The relation to the position of the left subclavian artery differs, in most patients the left subclavian artery is located anterior of the coarctation. Aortic coarctation is frequently associated with diffuse hypoplasia of the aortic arch and isthmus.  
Coarctation of the aorta is a narrowing of the thoracic aorta, typically located in the region of the obliterated ductus arteriosum. (Figure 9) The relation to the position of the left subclavian artery differs, in most patients the left subclavian artery is located anterior of the coarctation. Aortic coarctation is frequently associated with diffuse hypoplasia of the aortic arch and isthmus.  


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=== Treatment and outcome ===
=== Treatment and outcome ===
[[File:10._coarctatie_repair.PNG|thumb|left|Figure 10. Schematic drawing showing surgical procedures for repair of coarctation of the aorta. Left: resection with end-to-end anastomosis. Middle: dilating technique using a patch; this technique is used in coarctations involving a long segment of the aorta. Right: the subclavian flap aortoplasty, using the left subclavian artery.]]
[[File:Figure 10. Schematic drawing showing surgical procedures for repair of coarctation of the aorta.png|thumb|left|Figure 10. Schematic drawing showing surgical procedures for repair of coarctation of the aorta. Left: resection with end-to-end anastomosis. Middle: dilating technique using a patch; this technique is used in coarctations involving a long segment of the aorta. Right: the subclavian flap aortoplasty, using the left subclavian artery.]]
[[File:11. coarctatie repair2.PNG|thumb|right|Figure 11. Schematic drawing showing surgical procedures for repair of a coarctation of the aorta. Left: an interposition graft. Middle: the extended aortic arch repair. Right: the extra-anatomical bypass.]]
[[File:Figure 11. Schematic drawing showing surgical procedures for repair of a coarctation of the aorta.png|thumb|right|Figure 11. Schematic drawing showing surgical procedures for repair of a coarctation of the aorta. Left: an interposition graft. Middle: the extended aortic arch repair. Right: the extra-anatomical bypass.]]
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=== Introduction ===
=== Introduction ===
[[File:12. TGA.jpg|thumb|left|Figure 12: Schematic drawing showing transposition of the great arteries. The pulmonary artery is located above the left ventricle (LV) and the aorta is located above the right ventricle (RV).]]
[[File:12. TGA.jpg|thumb|left|Figure 12: Schematic drawing showing transposition of the great arteries. The pulmonary artery is located above the left ventricle (LV) and the aorta is located above the right ventricle (RV).]]
[[File:13. TGA.PNG|thumb|right|Figure 13. Schematic drawing of the circulation in transposition of the great arteries. Left: normal position of the great arteries with the pulmonary and systemic circulation serially connected. Right: transposition of the great arteries with a parallel circulation.]]
[[File:Figure 13. Schematic drawing of the circulation in transposition of the great arteries.png|thumb|right|Figure 13. Schematic drawing of the circulation in transposition of the great arteries. Left: normal position of the great arteries with the pulmonary and systemic circulation serially connected. Right: transposition of the great arteries with a parallel circulation.]]
Transposition of the great arteries (TGA) accounts for 5-8% of all congenital heart defects and occurs 2-3 times more frequently in males. TGA is best defined as a normal atrioventricular connection with an abnormal ventricular–arterial connection; the morphological left atrium is connected through the left ventricle with the pulmonary artery and the morphological right atrium through the right ventricle with the aorta. (Figure 12)The aorta is often located on the right side and in front of the pulmonary artery (D-TGA). In 70 percent there is an isolated form of TGA, in 30 percent the TGA is accompanied by other heart defects, like VSD or obstruction of the left ventricle outflow tract.
Transposition of the great arteries (TGA) accounts for 5-8% of all congenital heart defects and occurs 2-3 times more frequently in males. TGA is best defined as a normal atrioventricular connection with an abnormal ventricular–arterial connection; the morphological left atrium is connected through the left ventricle with the pulmonary artery and the morphological right atrium through the right ventricle with the aorta. (Figure 12)The aorta is often located on the right side and in front of the pulmonary artery (D-TGA). In 70 percent there is an isolated form of TGA, in 30 percent the TGA is accompanied by other heart defects, like VSD or obstruction of the left ventricle outflow tract.


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=== Congenitally corrected transposition of the great arteries ===
=== Congenitally corrected transposition of the great arteries ===
=== Introduction ===
=== Introduction ===
[[File:14. ccTGA.PNG|thumb|right|Figure 14. Congenitally corrected transposition of the great arteries. RA, right atrium. LA, left atrium. RV, right ventricle. LV, left ventricle. p, pulmonary artery. ao, aorta. tric, tricuspid valve.]]
[[File:Figure 14. Congenitally corrected transposition of the great arteries.png|thumb|right|Figure 14. Congenitally corrected transposition of the great arteries. RA, right atrium. LA, left atrium. RV, right ventricle. LV, left ventricle. p, pulmonary artery. ao, aorta. tric, tricuspid valve.]]
The congenitally corrected transposition of the great arteries (ccTGA) is characterized by a normal anatomical position of both atria, with an abnormal connection between the atria and the ventricles. The right atrium is connected with the left ventricle and the left atrium is connected with the right ventricle. (Figure 14) Furthermore the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. There are, in conclusion, abnormal atrioventricular connections and abnormal ventricular-arterial connections present in ccTGA.  
The congenitally corrected transposition of the great arteries (ccTGA) is characterized by a normal anatomical position of both atria, with an abnormal connection between the atria and the ventricles. The right atrium is connected with the left ventricle and the left atrium is connected with the right ventricle. (Figure 14) Furthermore the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. There are, in conclusion, abnormal atrioventricular connections and abnormal ventricular-arterial connections present in ccTGA.  
CcTGA is a very rare defect, accounting for about 1% of all congenital heart disease.
CcTGA is a very rare defect, accounting for about 1% of all congenital heart disease.
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=== Treatment ===  
=== Treatment ===  
 
[[File:16. Fontan.svg|thumb|left|Figure 16. Schematic drawing showing the Fontan procedure.]]


In case of a ductus-dependent defect initial treatment immediately after birth consists of prevention of ductus closure. At first this can be achieved pharmacologically with prostaglandin, however due to the many side effects this is no long-term solution.  
In case of a ductus-dependent defect initial treatment immediately after birth consists of prevention of ductus closure. At first this can be achieved pharmacologically with prostaglandin, however due to the many side effects this is no long-term solution.  
When there is a dependent pulmonary circulation an aortopulmonary shunt will be constructed during the first weeks of life to ensure accurate blood flow to the lungs after discontinuation of the prostaglandin.
When there is a dependent pulmonary circulation an aortopulmonary shunt will be constructed during the first weeks of life to ensure accurate blood flow to the lungs after discontinuation of the prostaglandin.


If there is a dependent systemic circulation the surgical treatment usually consists of three different steps. Since the anatomy is by no means normalized, one can not speak of a surgical correction, it is referred to as a definitive palliation. At first a Norwood or Sano procedure is performed in neonates where a neo-aorta is constructed by dividing the pulmonary artery. Second stage is the construction of a cavopulmonary shunt, also known as bidirectional Glenn shunt, which is performed at 4 -6 months of age. The third and final stage is known as Fontan procedure and performed at 18 – 30 months of age, where a total cavopulmonary connection is created. (figure 16) All surgical procedures are described in more detail separately.
If there is a dependent systemic circulation the surgical treatment usually consists of three different steps. Since the anatomy is by no means normalized, one can not speak of a surgical correction, it is referred to as a definitive palliation. At first a Norwood or Sano procedure is performed in neonates where a neo-aorta is constructed by dividing the pulmonary artery. Second stage is the construction of a cavopulmonary shunt, also known as bidirectional Glenn shunt, which is performed at 4 -6 months of age. The third and final stage is known as Fontan procedure and performed at 18 – 30 months of age, where a total cavopulmonary connection is created. (Figure 16) All surgical procedures are described in more detail separately.


=== Outcome ===
=== Outcome ===
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=== Case report ===
=== Case report ===
=== Introduction ===
=== Introduction ===
 
[[File:17. TOF.svg|thumb|right|Figure 17. Schematic drawing representing the four features of tetralogy of Fallot.]]


In 1888 Etienne Louis Arthur Fallot described the ‘maladie bleue’ as a combination of:
In 1888 Etienne Louis Arthur Fallot described the ‘maladie bleue’ as a combination of:
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* Hypertrophic right ventricle
* Hypertrophic right ventricle


This constellation of findings has since become known as tetralogy of Fallot (TOF). (figure 17)
This constellation of findings has since become known as tetralogy of Fallot (TOF). (Figure 17)


The prevalence of TOF is about 3.9 per 10.000 live births. This defect accounts for about 7 to 10 percent of cases of congenital heart disease and is one of the most common congenital heart lesions requiring intervention in the first year of life.
The prevalence of TOF is about 3.9 per 10.000 live births. This defect accounts for about 7 to 10 percent of cases of congenital heart disease and is one of the most common congenital heart lesions requiring intervention in the first year of life.
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Patients with TOF can undergo either palliative (shunts) or corrective (intracardiac repair) surgery. Although most children with TOF undergo intracardiac repair as their initial intervention, the principle of shunts remains an important palliative procedure for infants who may not be acceptable candidates for intracardiac repair due to prematurity, hypoplastic pulmonary arteries, or coronary artery anatomy.
Patients with TOF can undergo either palliative (shunts) or corrective (intracardiac repair) surgery. Although most children with TOF undergo intracardiac repair as their initial intervention, the principle of shunts remains an important palliative procedure for infants who may not be acceptable candidates for intracardiac repair due to prematurity, hypoplastic pulmonary arteries, or coronary artery anatomy.


Patients with TOF can undergo either palliative (shunts) or corrective (intracardiac repair) surgery. Although most children with TOF undergo intracardiac repair as their initial intervention, the principle of shunts remains an important palliative procedure for infants who may not be acceptable candidates for intracardiac repair due to prematurity, hypoplastic pulmonary arteries, or coronary artery anatomy.
Shunts are constructed to increase the blood flow to the lungs, to improve the development of the pulmonary arteries. Many patients who underwent intracardiac repair initially had a palliative shunt. Blalock and Taussig first reported successful surgical palliation of TOF in 1945. The procedure, which has since come to bear their names, used a subclavian artery to create an aorta-to-pulmonary artery connection. The technique has been modified and is now usually performed using a Gortex tube to create the connection.


Patients with TOF can undergo either palliative (shunts) or corrective (intracardiac repair) surgery. Although most children with TOF undergo intracardiac repair as their initial intervention, the principle of shunts remains an important palliative procedure for infants who may not be acceptable candidates for intracardiac repair due to prematurity, hypoplastic pulmonary arteries, or coronary artery anatomy.
A different type of shunt is the aortopulmonary anastomis, where a direct connection between the descending aorta and left pulmonary artery (Potts) or between the ascending aorta and the right pulmonary artery (Waterston) is constructed.


Intracardiac repair of TOF was reported by Lillehi in 1954. It consists of patch closure of the ventricular septal defect and enlargement of the RVOT. The latter is accomplished by relieving pulmonary stenosis, resecting infundibular and subinfundibular muscle bundles and if necessary by a transannular patch, creating unobstructed flow from the RV into the pulmonary arteries.  
Intracardiac repair of TOF was reported by Lillehi in 1954. It consists of patch closure of the ventricular septal defect and enlargement of the RVOT. The latter is accomplished by relieving pulmonary stenosis, resecting infundibular and subinfundibular muscle bundles and if necessary by a transannular patch, creating unobstructed flow from the RV into the pulmonary arteries.


=== Outcome ===
=== Outcome ===
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=== Case report ===
=== Case report ===
=== Introduction ===
=== Introduction ===
 
[[File:18. MFS.jpg|thumb|left|Figure 18. Echocardiographic image of aortic root dilatation in Marfan syndrome.]]
[[File:19. MFS2.jpg|thumb|right|Figure 19. Magnetic resonance imaging of the aorta, showing aortic root dilatation in Marfan syndrome.]]
Marfan syndrome (MFS) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals and is one of the most common inherited disorders of connective tissue. While most MFS patients have an affected parent, around 15 – 30 percent have a de novo mutation. MFS is associated with a broad range of clinical symptoms and associated disorders, ranging from classic ocular, cardiovascular, and musculoskeletal abnormalities to manifestations including involvement of the lung, skin, and central nervous system.
Marfan syndrome (MFS) is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals and is one of the most common inherited disorders of connective tissue. While most MFS patients have an affected parent, around 15 – 30 percent have a de novo mutation. MFS is associated with a broad range of clinical symptoms and associated disorders, ranging from classic ocular, cardiovascular, and musculoskeletal abnormalities to manifestations including involvement of the lung, skin, and central nervous system.


Progressive dilatation of the ascending aorta is one of the key features, which causes a high risk of sudden death due to aortic dissection or rupture in young Marfan patients. (figure 18 and 19)
Progressive dilatation of the ascending aorta is one of the key features, which causes a high risk of sudden death due to aortic dissection or rupture in young Marfan patients. (Figure 18 & 19)


The underlying genetic defect is localised in the fibrillin gene on chromosome 15 (FBN1) in which recently around 600 different mutations are found. However in about 10% of MFS patients there is no mutation identified in the FBN1 gene, furthermore FBN1 mutations also occur across a wide range of milder phenotypes that overlap the classic Marfan phenotype. Therefore it is not possible to diagnose MFS solely with genetic information.
The underlying genetic defect is localised in the fibrillin gene on chromosome 15 (FBN1) in which recently around 600 different mutations are found. However in about 10% of MFS patients there is no mutation identified in the FBN1 gene, furthermore FBN1 mutations also occur across a wide range of milder phenotypes that overlap the classic Marfan phenotype. Therefore it is not possible to diagnose MFS solely with genetic information.
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Beta blockers decrease myocardial contractility and may also improve the elastic properties of the aorta, particularly in patients with an aortic root diameter <40 mm thereby decreasing the risk of aortic dissection and delaying the aortic dilatation. Prophylactic treatment with beta blockers is considered the standard of care in adults with MFS. Furthermore patients with MFS are advised to avoid any contact sports, exercise at maximal capacity, and isometric activities.  
Beta blockers decrease myocardial contractility and may also improve the elastic properties of the aorta, particularly in patients with an aortic root diameter <40 mm thereby decreasing the risk of aortic dissection and delaying the aortic dilatation. Prophylactic treatment with beta blockers is considered the standard of care in adults with MFS. Furthermore patients with MFS are advised to avoid any contact sports, exercise at maximal capacity, and isometric activities.  


Beta blockers decrease myocardial contractility and may also improve the elastic properties of the aorta, particularly in patients with an aortic root diameter <40 mm thereby decreasing the risk of aortic dissection and delaying the aortic dilatation. Prophylactic treatment with beta blockers is considered the standard of care in adults with MFS. Furthermore patients with MFS are advised to avoid any contact sports, exercise at maximal capacity, and isometric activities.
The exact aortic root diameter at which elective surgery should be performed is uncertain. The current guidelines recommend elective operation for patients with MFS at an external diameter of ≥50 mm to avoid acute dissection or rupture. Indications for repair at an external diameter less than 50 mm include rapid growth (>2 mm/y), family history of aortic dissection at a diameter less than 50 mm, desire of pregnancy or presence of progressive aortic or mitral valve regurgitation. However one must take into account that a predicted aortic root diameter varies with body size and age and may be smaller in women. Smaller patients have dissection at a smaller aortic root size and 15 percent of patients with MFS have dissection at a diameter less than 50 mm.  


Beta blockers decrease myocardial contractility and may also improve the elastic properties of the aorta, particularly in patients with an aortic root diameter <40 mm thereby decreasing the risk of aortic dissection and delaying the aortic dilatation. Prophylactic treatment with beta blockers is considered the standard of care in adults with MFS. Furthermore patients with MFS are advised to avoid any contact sports, exercise at maximal capacity, and isometric activities.  
The classic aortic root surgery is the Bentall procedure in which the ascending aorta is replaced, together with the aortic valve, by a graft with prosthetic valve. In this procedure the coronary arteries need to be reimplanted in the aortic graft. In patients with anatomically normal valves, in whom the insufficiency is due to the dilated annulus or dissection, valve-sparing operations with root replacement by a Dacron prosthesis and with reimplantation of the coronary arteries into the prosthesis (David’s procedure) or remodelling of the aortic root (Yacoub’s procedure) have now become the preferred surgical procedures. Aortic regurgitation is, however, a common complication, requiring reoperation in 20% of patients after 10 years.


=== Outcome ===
=== Outcome ===
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=== Case report ===
=== Case report ===
=== Introduction ===
=== Introduction ===
Ebsteins anomaly, named after Wilhelm Ebstein (1836 – 1912) (figure 20) is a congenital heart defect of the morphological tricuspid valve. The prevalence of Ebstein's anomaly is about 1 in 50.000 – 200.000 with a similar incidence in both males and females.
[[File:20. Wilhelm Ebstein.jpg|thumb|left|Figure 20. Wilhelm Ebstein (1836 – 1912).]]
[[File:Figure 21. Schematic drawing showing Ebstein’s anomaly of the tricuspid valve.png|thumb|right|Figure 21. Schematic drawing showing Ebstein’s anomaly of the tricuspid valve. Left: normal heart with openend right ventricle. Right: Ebstein’s anomaly with displacement of the septal and posterior tricuspid leaflet, leading to atrialisation of a significant part of the right ventricle.]]
Ebsteins anomaly, named after Wilhelm Ebstein (1836 – 1912) (Figure 20) is a congenital heart defect of the morphological tricuspid valve. The prevalence of Ebstein's anomaly is about 1 in 50.000 – 200.000 with a similar incidence in both males and females.


As its name clearly indicates, the tricuspid valve consists of three leaflets; anterosuperior, septal and inferior. The Ebstein’s anomaly consists of a variety of anatomical and functional abnormalities of the tricuspid valve. Typical features are:
As its name clearly indicates, the tricuspid valve consists of three leaflets; anterosuperior, septal and inferior. The Ebstein’s anomaly consists of a variety of anatomical and functional abnormalities of the tricuspid valve. Typical features are:
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PH is classified into five groups:
PH is classified into five groups:
# Pulmonary arterial hypertension (PAH). This group consists of idiopathic PAH and PAH due to connective tissue diseases, HIV infection, portal hypertension, congenital heart disease, schistosomiasis, chronic hemolytic anemia, persistent pulmonary hypertension of the newborn, pulmonary veno-occlusive disease, drug- and toxin-induced PH and pulmonary capillary hemangiomatosis.
# Pulmonary arterial hypertension (PAH). This group consists of idiopathic PAH and PAH due to connective tissue diseases, HIV infection, portal hypertension, congenital heart disease, schistosomiasis, chronic hemolytic anemia, persistent pulmonary hypertension of the newborn, pulmonary veno-occlusive disease, drug- and toxin-induced PH and pulmonary capillary hemangiomatosis.
# Pulmonary hypertension owing to left heart disease. PH due to systolic dysfunction, diastolic dysfunction, or valvular heart disease is included in this group.
# Pulmonary hypertension owing to left heart disease. PH due to systolic dysfunction, diastolic dysfunction, or valvular heart disease is included in this group.
# Pulmonary hypertension owing to lung diseases or hypoxemia. This group includes PH due to chronic obstructive pulmonary disease, interstitial lung disease, other pulmonary diseases with a mixed restrictive and obstructive pattern, sleep-disordered breathing, alveolar hypoventilation disorders, and other causes of hypoxemia [4].
# Pulmonary hypertension owing to lung diseases or hypoxemia. This group includes PH due to chronic obstructive pulmonary disease, interstitial lung disease, other pulmonary diseases with a mixed restrictive and obstructive pattern, sleep-disordered breathing, alveolar hypoventilation disorders, and other causes of hypoxemia [4].
# Chronic thromboembolic pulmonary hypertension. This group includes patients with PH due to thromboembolic occlusion of the proximal or distal pulmonary vasculature.
# Chronic thromboembolic pulmonary hypertension. This group includes patients with PH due to thromboembolic occlusion of the proximal or distal pulmonary vasculature.
# Pulmonary hypertension with unclear multifactorial mechanisms. These patients have PH caused by hematologic disorders (eg, myeloproliferative disorders), systemic disorders (eg, sarcoidosis), metabolic disorders (eg, glycogen storage disease), or miscellaneous causes
# Pulmonary hypertension with unclear multifactorial mechanisms. These patients have PH caused by hematologic disorders (eg, myeloproliferative disorders), systemic disorders (eg, sarcoidosis), metabolic disorders (eg, glycogen storage disease), or miscellaneous causes


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=== Pathophysiology ===
=== Pathophysiology ===
 
[[File:22. Eisenmenger.jpg|thumb|right|Figure 22. Photo showing typical features of chronic hypoxemia in Eisenmenger syndrome, with typical digital clubbing with cyanotic nail beds.]]


The pathogenesis of PH is complex and just beginning to be elucidated. In patients with congenital heart disease, left-to-right intracardiac shunting increases flow through the pulmonary vasculature, this causes shear forces that disrupt the vascular endothelium and activate cellular mechanisms critical to the pathogenesis and progression of PAH.
The pathogenesis of PH is complex and just beginning to be elucidated. In patients with congenital heart disease, left-to-right intracardiac shunting increases flow through the pulmonary vasculature, this causes shear forces that disrupt the vascular endothelium and activate cellular mechanisms critical to the pathogenesis and progression of PAH.
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Therapy improves exercise capacity and functional class, however the impact on mortality has been less well established.
Therapy improves exercise capacity and functional class, however the impact on mortality has been less well established.
== References ==
<biblio>
#Basow2012a Basow, D. S. (2012a). Classification and clinical features of isolated atrial septal defects in children. UpToDate. Waltham, MA.: UpToDate.
#Basow2012b Basow, D. S. (2012b). Management of atrial septal defects in adults. UpToDate. Waltham, MA.: UpToDate.
#Basow2012c Basow, D. S. (2012c). Management and outcome of isolated atrial septal defects in children. UpToDate. Waltham, MA.: UpToDate.
#Basow2012d Basow, D. S. (2012d). Pathophysiology and clinical features of atrial septal defects in adults. UpToDate. Waltham, MA.: UpToDate.
#Basow2012e Basow, D. S. (2012e). Identification and assessment of atrial septal defects in adults. UpToDate. Waltham, MA.: UpToDate.
#Basow2012f Basow, D. S. (2012f). Devices for percutaneous closure of a secundum atrial septal defect. UpToDate. Waltham, MA.: UpToDate.
#Berger Berger, F., Vogel, M., Alexi-Meskishvili, V., & Lange, P. E. (1999). Comparison of results and complications of surgical and Amplatzer device closure of atrial septal defects. The Journal of Thoracic and Cardiovascular Surgery, 118(4), 674-678; discussion 678-680
#Engelfriet Engelfriet, P., Boersma, E., Oechslin, E., Tijssen, J., Gatzoulis, M. A., Thilén, U., Kaemmerer, H., e.a. (2005). The spectrum of adult congenital heart disease in Europe: morbidity and mortality in a 5 year follow-up period. The Euro Heart Survey on adult congenital heart disease. European Heart Journal, 26(21), 2325-2333. doi:10.1093/eurheartj/ehi396
#Mulder Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006a). Atrial Septal Defect. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#Roos-Hesselink Roos-Hesselink, J. W., Meijboom, F. J., Spitaels, S. E. C., van Domburg, R., van Rijen, E. H. M., Utens, E. M. W. J., Bogers, A. J. J. C., e.a. (2003). Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age. A prospective follow-up study of 21-33 years. European Heart Journal, 24(2), 190-197.
#Basow2012h Basow, D. S. (2012h). Pathophysiology and clinical features of isolated ventricular septal defects in infants and children. UpToDate. Waltham, MA.: UpToDate.
#Basow2012i Basow, D. S. (2012i). Management of isolated ventricular septal defects in infants and children. UpToDate. Waltham, MA.: UpToDate.
#Baumgartner Baumgartner, H., Bonhoeffer, P., De Groot, N. M. S., de Haan, F., Deanfield, J. E., Galie, N., Gatzoulis, M. A., e.a. (2010). ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). European Heart Journal, 31(23), 2915-2957.
#Mulder2 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006b). Ventricular Septal Defect. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#Verheugt Verheugt, C. L., Uiterwaal, C. S. P. M., Grobbee, D. E., & Mulder, B. J. M. (2008). Long-term prognosis of congenital heart defects: a systematic review. International Journal of Cardiology, 131(1), 25-32.
#Mulder3 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Patent Ductus Arteriosus. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum
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#Luijendijk1 Luijendijk, P, Boekholdt, S. M., Blom, N. A., Groenink, M., Backx, A. P., Bouma, B. J., Mulder, B. J. M., e.a. (2011). Percutaneous treatment of native aortic coarctation in adults. Netherlands Heart Journal: Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 19(10), 436-439.
#Luijendijk2 Luijendijk, Paul, Bouma, B. J., Vriend, J. W. J., Vliegen, H. W., Groenink, M., & Mulder, B. J. M. (2011). Usefulness of exercise-induced hypertension as predictor of chronic hypertension in adults after operative therapy for aortic isthmic coarctation in childhood. The American Journal of Cardiology, 108(3), 435-439.
#Mulder4 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Coarctation of the aorta. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#Vriend1 Vriend, J. W. J., & Mulder, B. J. M. (2005). Late complications in patients after repair of aortic coarctation: implications for management. International Journal of Cardiology, 101(3), 399-406.
#Vriend2 Vriend, J. W. J., Oosterhof, T., & Mulder, B. (2005). Noninvasive imaging for the postoperative assessment of aortic coarctation patients. Chest, 127(6), 2295.
#Drenthen Drenthen, W., Pieper, P. G., Ploeg, M., Voors, A. A., Roos-Hesselink, J. W., Mulder, B. J. M., Vliegen, H. W., e.a. (2005). Risk of complications during pregnancy after Senning or Mustard (atrial) repair of complete transposition of the great arteries. European Heart Journal, 26(23), 2588-2595. doi:10.1093/eurheartj/ehi472
#Mulder5 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Transposition of the great arteries. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#vanderZedde van der Zedde, J., Oosterhof, T., Tulevski, I. I., Vliegen, H. W., & Mulder, B. J. M. (2005). Comparison of segmental and global systemic ventricular function at rest and during dobutamine stress between patients with transposition and congenitally corrected transposition. Cardiology in the Young, 15(2), 148-153. doi:10.1017/S1047951105000326
#Mulder6 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Congenitally corrected transposition of the great arteries. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#Winlaw Winlaw, D. S., McGuirk, S. P., Balmer, C., Langley, S. M., Griselli, M., Stümper, O., De Giovanni, J. V., e.a. (2005). Intention-to-treat analysis of pulmonary artery banding in conditions with a morphological right ventricle in the systemic circulation with a view to anatomic biventricular repair. Circulation, 111(4), 405-411.
#Winter1 Winter, M. M., Bouma, B. J., van Dijk, A. P. J., Groenink, M., Nieuwkerk, P. T., van der Plas, M. N., Sieswerda, G. T., e.a. (2008). Relation of physical activity, cardiac function, exercise capacity, and quality of life in patients with a systemic right ventricle. The American Journal of Cardiology, 102(9), 1258-1262.
#Winter2 Winter, M. M., van der Bom, T., de Vries, L. C. S., Balducci, A., Bouma, B. J., Pieper, P. G., van Dijk, A. P. J., e.a. (2011). Exercise training improves exercise capacity in adult patients with a systemic right ventricle: a randomized clinical trial. European Heart Journal.
#Winter3 Winter, M. M., van der Plas, M. N., Bouma, B. J., Groenink, M., Bresser, P., & Mulder, B. J. M. (2010). Mechanisms for cardiac output augmentation in patients with a systemic right ventricle. International Journal of Cardiology, 143(2), 141-146.
#Basow2012 Basow, D. S. (2012). Hypoplastic left heart syndrome. UpToDate. Waltham, MA.: UpToDate.
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#Mulder7 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Univentricular heart and the Fontan circulation. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
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#Balci Balci, A., Drenthen, W., Mulder, B. J. M., Roos-Hesselink, J. W., Voors, A. A., Vliegen, H. W., Moons, P., e.a. (2011). Pregnancy in women with corrected tetralogy of Fallot: occurrence and predictors of adverse events. American Heart Journal, 161(2), 307-313.
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#Mulder9 Mulder, Barbara J M, & van der Wall, E. E. (2009). Tetralogy of Fallot: in good shape? The International Journal of Cardiovascular Imaging, 25(3), 271-275.
#Oosterhof Oosterhof, T., Mulder, B. J. M., Vliegen, H. W., & de Roos, A. (2006). Cardiovascular magnetic resonance in the follow-up of patients with corrected tetralogy of Fallot: a review. American Heart Journal, 151(2), 265-272.
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#Windhausen Windhausen, F., Boekholdt, S. M., Bouma, B. J., Groenink, M., Backx, A. P. C. M., de Winter, R. J., Mulder, B. J. M., e.a. (2011). Per-operative stent placement in the right pulmonary artery; a hybrid technique for the management of pulmonary artery branch stenosis at the time of pulmonary valve replacement in adult Fallot patients. Netherlands Heart Journal: Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 19(10), 432-435.
#deWitte de Witte, Piet, Aalberts, J. J. J., Radonic, T., Timmermans, J., Scholte, A. J., Zwinderman, A. H., Mulder, B. J. M., e.a. (2011). Intrinsic biventricular dysfunction in Marfan syndrome. Heart (British Cardiac Society), 97(24), 2063-2068.
#Engelfriet2 Engelfriet, P., & Mulder, B. (2007). Is there benefit of beta-blocking agents in the treatment of patients with the Marfan syndrome? International Journal of Cardiology, 114(3), 300-302.
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#Engelfriet3 Engelfriet, Peter M, Duffels, M. G. J., Möller, T., Boersma, E., Tijssen, J. G. P., Thaulow, E., Gatzoulis, M. A., e.a. (2007). Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease. Heart (British Cardiac Society), 93(6), 682-687.
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#Mulder12 Mulder, B J M. (2010). Changing demographics of pulmonary arterial hypertension in congenital heart disease. European Respiratory Review: An Official Journal of the European Respiratory Society, 19(118), 308-313. doi:10.1183/09059180.00007910
#Mulder13 Mulder, B.J.M., Pieper, P. G., Meijboom, F. J., & Hamer, J. P. M. (2006). Eisenmenger syndrome. Adult Congenital Heart Disease (Aangeboren hartafwijkingen bij volwassenen) (Second edition.). Houten: Bohn Stafleu van Loghum.
#Schuuring2 Schuuring, M J, van Riel, A. C. M. J., Bouma, B. J., & Mulder, B. J. M. (2011). Recent progress in treatment of pulmonary arterial hypertension due to congenital heart disease. Netherlands Heart Journal: Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 19(12), 495-497.
#Schuuring Schuuring, Mark J, Vis, J. C., Duffels, M. G., Bouma, B. J., & Mulder, B. J. (2010). Adult patients with pulmonary arterial hypertension due to congenital heart disease: a review on advanced medical treatment with bosentan. Therapeutics and Clinical Risk Management, 6, 359-366.
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#Vis Vis, J. C., Duffels, M. G., Mulder, P., de Bruin-Bon, R. H. A. C. M., Bouma, B. J., Berger, R. M. F., Hoendermis, E. S., e.a. (2011). Prolonged beneficial effect of bosentan treatment and 4-year survival rates in adult patients with pulmonary arterial hypertension associated with congenital heart disease. International Journal of Cardiology.
</biblio>
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