Overview of congenital heart disease

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Introduction
Congenital heart disease (CHD) is the most common birth defect, although still relatively rare. The surgical and medical treatment of CHD has markedly improved over the last 50 years. Corrective surgery for intra-cardiac defects first began at the Mayo Clinic and the University of Minnesota in the 1950s. [1] It was the introduction of machines that perfused the vital organs while a surgeon carefully repaired a non-beating heart that revolutionised the field of corrective surgery. Survival well into adulthood is now expected for most babies born with CHD.

Epidemiology
Occurs in 0.8% of live births. In North America, it is estimated that there are more than 1 million adults with CHD; for the first time, the number of adults now exceeds the number of children with CHD.

Classification
Left-to-right shunts Lesions that allow blood to shunt from the left side to the right side of the heart. They are associated with varying degrees of increased pulmonary blood flow and are typically acyanotic. In some defects, the site of the shunt may not be within the heart itself. Cyanosis occurs only if the lesions are large and not repaired in childhood, and if the patient develops pulmonary vascular obstructive disease (Eisenmenger's physiology). Echocardiography is the primary imaging modality, and, in the current era, the role of cardiac catheterisation is primarily for intervention. [2] o o o o Examples include: Ventricular septal defect (VSD) Atrial septal defect (ASD) Atrioventricular septal defect (AVSD) Patent ductus arteriosus (PDA)

Partial anomalous pulmonary venous connection (PAPVC). Right-to-left shunts

Lesions that result in de-oxygenated blood reaching the aorta and are associated with an increased or decreased pulmonary blood flow.

o o o o o o o

Examples include: Tetralogy of Fallot (TOF) Pulmonary valve atresia with or without a VSD d-Transposition of the great arteries (d-TGA) Truncus arteriosus Ebstein's anomaly Total anomalous pulmonary venous connection (TAPVC) Hypoplastic left heart syndrome (HLHS). Obstructive valvular and non-valvular lesions

Left ventricular outflow tract (LVOT) obstruction Coarctation of the aorta Pulmonary valve stenosis (PS) Aortic valve stenosis (AS)

Conditionshide all
Ventricular septal defect (VSD) see our comprehensive coverage of Ventricular septal defects This is the most common form of CHD, accounting for 20% of all cases, excluding bicuspid aortic valve and mitral valve prolapse. [3] Sub-types based on location include: peri-membranous (in the area of the membranous septum); outlet (below 1 or both semilunar valves); inlet (inferior to the atrioventricular [AV] valves); and muscular (in the muscular or trabeculated portion of the ventricular septum). View image Peri-membranous defects can sometimes close spontaneously by apposition of the septal leaflet of the tricuspid valve to the defect. Outlet defects may be large and associated with more complex forms of congenital heart disease. Both peri-membranous and outlet VSDs are in close proximity to the right cusp

of the aortic valve. Because of the Venturi effect, these defects can cause prolapse of an aortic valve cusp, which results in both a restriction to flow through the VSD and regurgitation of the aortic valve. [4] Inlet defects do not close spontaneously and may be associated with AVSD and AV valve regurgitation. Muscular defects are the most common type of VSDs in newborns and the vast majority close spontaneously before 2 years of age. View image Children with a small VSD develop normally and are asymptomatic. With larger defects, the baby may develop signs of excess pulmonary blood flow such as tachypnoea, tachycardia, pallor, poor feeding, and poor weight gain once pulmonary vascular resistance declines at 6 to 8 weeks of age. Pulmonary vascular obstructive disease usually does not develop in infants, but can develop by 2 years of age. Eisenmenger's physiology, a right-to-left shunt due to irreversible pulmonary vascular obstructive disease, does not typically occur until later in life. Once a patient develops Eisenmenger's physiology, the VSD cannot be closed safely. Patients have a low-to-mid frequency holosystolic murmur, a prominent pre-cordial impulse, and, in patients with pulmonary HTN, a loud and single second heart sound. If the left-to-right shunt is large, patients develop a mid-diastolic flow murmur ("rumble") across the mitral valve. CXR and ECG can be normal in small VSDs. In larger defects, there is cardiac enlargement and increased pulmonary vascular markings on CXR, View image and ECG reveals left ventricle hypertrophy; right ventricle hypertrophy can occur with larger defects. Inlet-type VSDs are associated with left axis deviation on ECG. Echocardiography provides important information regarding the anatomy of the defect, the volume of the shunt and right ventricular pressure. [5] The goal of treatment is to ensure adequate somatic growth and prevent pulmonary vascular obstructive disease. Small VSDs and those unassociated with excessive pulmonary blood flow do not require closure. Large VSDs and defects associated with aortic regurgitation due to aortic valve cusp prolapse or excess pulmonary blood flow may require diuretics and an increased caloric formula, followed by closure of the defect (either surgical closure or transcatheter device closure). Those with increased pulmonary blood flow and failure to thrive are closed surgically between 1 and 4 months of age; most large defects are typically closed by 6 to 9 months of age. Atrial septal defect (ASD) see our comprehensive coverage of Atrial septal defects Represents 6% to 10% of all CHD and has a female-to-male predominance of 2:1. [6] There are 4 subtypes: View image ostium secundum defect (60% to 70% of ASDs) in the area of the fossa ovalis; ostium primum defect, a form of AVSD, in the inferior aspect of the atrial septum; View imagesinus venosus defect, not a true ASD, which occurs at the entry of the superior vena cava into the right atrium due a failure of the normal incorporation of the right pulmonary veins into the left atrium; and unroofed coronary sinus, the least common type. Unroofed coronary sinus, also known as a coronary sinus ASD, is not a true atrial septal defect. It occurs when a hole in the roof of the coronary sinus allows the coronary sinus and left atrium to communicate.

Children with isolated ASDs are frequently asymptomatic. It is the most commonly missed CHD diagnosis in childhood, frequently not discovered until adulthood. An untreated defect leads to exercise intolerance, atrial arrhythmias, increased pulmonary blood flow, and pulmonary vascular obstructive disease in the third or fourth decade of life. The patient may be at risk of stroke secondary to paradoxical embolisation through the defect. In moderate to large ASDs, examination reveals an increased right ventricular impulse, a widely split fixed second heart sound, and a soft systolic ejection murmur best heard at the upper left sternal border. The murmur is caused by increased blood flow through the pulmonary valve, not through the ASD. In large defects, a diastolic murmur may also be present at the lower sternal border secondary to excessive blood flow through the tricuspid valve. CXR is not helpful in determining the sub-type and may be normal with a small ASD. ECG may also be normal in small secundum, sinus venous, and unroofed coronary sinus ASDs. With a larger shunt, there may be right atrial enlargement, right ventricular hypertrophy, or right axis deviation. View imageView image Ostium primum-type defects are characterised by an initial counterclockwise frontal plane loop and left axis deviation. [7] Treatment involves either an operation or percutaneous device closure. [8] View image Device closure is the preferred method for ostium secundum defects if there are adequate septal rims to secure a device, but cannot be used in other sub-types due to the close proximity of the defects to other cardiac structures. Partial AVSD (ostium primum ASD and a cleft mitral valve) can be repaired after the age of 18 to 24 months in most patients and involves closure of the mitral cleft in addition to the ASD. Atrioventricular septal defect (AVSD) Represents 4% to 5% of all CHD and is found in 40% of children with Down's syndrome. [9]The defects are also called endocardial cushion defects or AV canal defects. Endocardial cushions close the ostium primum and form portions of the AV valves and the ventricular septum. AVSDs may be partial or complete; 1 type of a partial AVSD is a primum ASD. A complete AVSD consists of a primum ASD and a contiguous inlet VSD. View image Presentation and findings on examination of patients with complete and partial AVSDs are similar to patients with a VSD or ASD, respectively. Severity is also determined by the volume of the shunt, extent of the AV valve abnormalities, associated cardiac and extra-cardiac anomalies, and the relative size of the 2 ventricles. ECG is likely to reveal an initial counter-clockwise frontal plane loop and a superior QRS axis. View image Patients with complete AVSDs usually have cardiomegaly and increased pulmonary vascular markings on CXR. [10] Children with a complete AVSD require surgical repair, usually performed at 3 to 6 months of age. They require life-long follow-up, as approximately 15% of patients develop progressive AV valve regurgitation or left ventricle outflow tract (LVOT) obstruction. [11] Patent ductus arteriosus (PDA) see our comprehensive coverage of Patent ductus arteriosus

A ductus arterious normally closes within several days of birth and is an essential component of normal in utero cardiovascular physiology. Persistent patency occurs in 1 in 5000 live births in full-term infants but is much more common in pre-term neonates. [12] In pre-term infants, a PDA has been noted during admission to hospital in 42% of neonates weighing 500 to 999 g, 21% weighing 1000 to 1499 g, and 7% weighing 1500 to 1750 g. [13] There is also a 30-fold higher incidence in patients born at higher altitudes. PDA represents 9% to 12% of all CHD. Patients are asymptomatic when the ductus is small. With increasing size, newborns present with signs of increased pulmonary blood flow, a wide pulse pressure, and "bounding" pulses. Eisenmenger's physiology, secondary to pulmonary vascular obstructive disease and shunt reversal, may occur if the PDA is large and long standing, and results in cyanosis only in the lower half of the body. Typically, a PDA produces a continuous murmur, best heard at the left infraclavicular area. The murmur is continuous because the aortic pressure is higher than the pulmonary artery pressure during both systole and diastole. If the shunt is large, a diastolic mitral flow murmur also may be heard. In some preterm and newborn infants, the murmur may be heard only in systole and can be confused with the murmur of a VSD. ECG and CXR often are normal. In a large PDA, bi-ventricular hypertrophy on the surface ECG, and increased pulmonary blood flow and cardiomegaly on CXR may be present. Echocardiography allows delineation of the PDA anatomy, and direction and volume of the shunt. [12] In pre-term infants, the ductus can often be closed with indometacin (indomethacin) or ibuprofen, or failing that, ligated surgically. [14] In older children and adults, PDAs are closed percutaneously using coils or devices. [11] Diuretics can be used to treat patients with excess pulmonary blood flow until definitive closure. Partial anomalous pulmonary venous connection (PAPVC) An anomaly where 1 (but not all) pulmonary veins connect to the systemic veins or right atrium, instead of to the left atrium. This defect represents <1% of all CHD. Anomalous connection of the right upper/middle pulmonary vein(s) is associated with a sinus venosus ASD; connection of the right lower pulmonary vein(s) to the inferior vena cava may be part of the "Scimitar's syndrome." [15] Presentation, ECG, and CXR findings are similar to patients with ASDs, although patients with only 1 abnormal vein may be clinically asymptomatic. The clinical presentation of patients with Scimitar's syndrome varies from severely ill infants with pulmonary HTN to relatively asymptomatic adults. Trans-thoracic echocardiography may be insufficient to diagnose PAPVC accurately in adults, and other imaging modalities such as trans-oesophageal echocardiography, CT, or MRI may be necessary. Surgical intervention is indicated if the shunt volume creates significant right-sided volume overload, which is associated with a pulmonary outflow murmur and occasionally a diastolic tricuspid inflow murmur. [16] Tetralogy of Fallot (TOF) see our comprehensive coverage of Tetralogy of Fallot

One of the most common forms of cyanotic CHD, representing 4% to 8% of all defects. It consists of 4 abnormalities: outlet VSD, right ventricular outflow tract (RVOT) obstruction, an aorta that over-rides the crest of the ventricular septum, and RV hypertrophy, a result of RVOT obstruction. View image If RVOT obstruction is mild and there is no apparent cyanosis, it is sometimes referred to as "pink tetralogy." Most patients with TOF, however, have progressive cyanosis after birth followed by dyspnoea on exertion as a young child. Secondary erythrocytosis develops as a compensatory mechanism for chronic hypoxaemia. Poor somatic growth may be present. Hyper-cyanotic or "tet spells" are hypoxic episodes consisting of an abrupt onset of rapid shallow breathing, increased agitation, cyanosis, and a decrease in murmur intensity due to reduced blood flow through the RVOT. Without treatment, these can cause profound hypoxaemia, seizures, and death. Older children with hypoxic spells will squat to increase systemic vascular resistance and thereby reduce hypoxaemia. A loud ejection systolic murmur is heard at the left upper sternal border with radiation to both axillae due to the RVOT obstruction. Rarely, patients with minimal RVOT obstruction present with only mild cyanosis and may develop signs of excess pulmonary blood flow due to a left-to-right shunt through the VSD. A right ventricular impulse may be present. Classically, CXR is normal except for decreased pulmonary vascular markings. Fewer than 25% of infants have the classically described "boot shaped" cardiac silhouette. Severely hypoxic infants may be treated with prostaglandin E1 to re-open or maintain the patency of the ductus arteriosus and increase pulmonary blood flow. If this does not improve the hypoxaemia, the patient may require a systemic-to-pulmonary artery graft, such as a modified Blalock-Taussig shunt, until definitive repair (which includes patch closure of the VSD and relief of RVOT obstruction). [17] Complete repair may be performed in certain centres in the newborn period, although most clinicians favour it at 3 months of age or when progressive cyanosis develops. Surgical results have been excellent in recent decades, although many patients "repaired" as young children require re-operation for placement of a competent pulmonary valve when older. [11] Pulmonary valve atresia with a VSD This often is considered to be the most severe form of TOF where the pulmonary valve does not develop. Seventy per cent of patients have a PDA that maintains pulmonary blood flow. Others have multiple systemic-to-pulmonary collateral vessels. Pulmonary artery anomalies are common and include hypoplasia, non-confluence, and abnormal distribution. [18] Patients are usually cyanotic at birth. A continuous murmur from the PDA or systemic-to-pulmonary artery collaterals may be audible. The second heart sound is single. ECG shows right axis deviation and right ventricular hypertrophy. CXR reveals markedly decreased pulmonary vascularity. Prostaglandin E1 is commenced to maintain patency of the ductus arteriosus. Most patients are also likely to require a systemic-to-pulmonary shunt to maintain adequate pulmonary blood flow. Patients with large, confluent pulmonary arteries may have a single-stage repair; others require a staged repair.

Pulmonary atresia with an intact ventricular septum This defect is rare and severity depends upon commonly associated right ventricular and tricuspid valve hypoplasia. Coronary artery-to-right ventricle fistulae are also associated with this defect. [19] A large, unrestrictive ASD is required for survival as there is no outlet from the right ventricle to the pulmonary arteries. There are no examination findings characteristic of this defect. CXR reveals cardiomegaly with a prominent right atrium and ECG shows atrial enlargement. Echocardiography is utilised to determine right ventricular size and tricuspid valve hypoplasia. A restrictive ASD is a medical emergency in these patients and requires an urgent balloon atrial septostomy. Patients should be treated with prostaglandin E1 to maintain ductal patency since the PDA is the only source of pulmonary blood flow. [20] Most patients require staged operations that potentially allow the tricuspid valve and right ventricle to increase in size. A modified Fontan's operation or a 1.5 ventricle repair may be necessary if the right ventricle and tricuspid valve to do not reach an adequate size to allow a 2 ventricle repair. A 1.5 ventricle repair involves a bi-directional cavopulmonary shunt to divert superior vena caval blood flow to the pulmonary arteries to reduce right ventricular pre-load, closure of the ASD and establishment of right ventricle-to-pulmonary artery continuity. Patients with coronary artery-to-right ventricle fistulae require a modified Fontan's operation. d-Transposition of the great arteries (d-TGA) A common CHD representing 4% of all defects. In this defect, the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. As a result, de-oxygenated systemic venous blood travels from the right ventricle to the aorta without passing through the lungs, and pulmonary venous blood travels from the left ventricle to the lungs via the pulmonary artery. The systemic and pulmonary circulations are in parallel rather than series. This is not compatible with life without a communication between the 2 circuits, such as a VSD, ASD, or PDA. Most patients with d-TGA do not have a VSD and a third of those with a VSD have associated pulmonary stenosis. Patients present in the first few hours of birth with cyanosis as a medical emergency. Examination reveals a prominent right ventricular impulse, a single loud second heart sound (due to the anterior position of the aorta), and no murmur, or a systolic ejection murmur in those with a VSD and pulmonary stenosis. Prostaglandin E1 is used to maintain patency of the ductus arteriosus and most patients also require an atrial septostomy to enhance mixing at the atrial level. The arterial switch operation is the best option for patients with d-TGA and a normal pulmonary valve, and is performed in the first weeks of life. Once the pulmonary vascular resistance decreases, the left ventricle is no longer conditioned to pump against the higher resistance associated with the systemic circulation. TGA-VSD should be repaired in the newborn period if identified at that time. However, successful late repair (1 to 2 months of age) has been reported, albeit with increased morbidity. Around 80% of patients who underwent an atrial switch operation, known as a Senning or a Mustard procedure, during the 1960s to mid-1980s have had good outcome several

decades after surgery. However, long-term complications, including arrhythmias, systemic or pulmonary venous obstruction, and systemic right ventricular dysfunction, are known in adulthood. [11] Truncus arteriosus Comprises <1% of all CHD. It consists of a large outlet VSD and only 1 great artery, the truncus, arising from the heart, which gives rise to the coronary arteries, the pulmonary arteries, and the aorta. A microdeletion of 22q11.2 (DiGeorge syndrome), interrupted aortic arch, and truncal valve insufficiency are common associated anomalies. Patients present with congestive heart failure or cyanosis. Examination reveals a prominent right ventricle impulse and a systolic ejection murmur at the left sternal border. There may also be a truncal valve ejection click. Truncal valve regurgitation results in a decrescendo diastolic murmur. Interruption of the aorta and a restrictive PDA results in decreased femoral pulses. Right ventricular dominance of infancy is seen on ECG, and CXR reveals cardiomegaly with increased pulmonary markings. Echocardiography helps accurately identify various aspects of this lesion. [21] Congestive heart failure is treatable with diuretics. Surgical repair entails closure of the VSD, separation of the pulmonary and systemic circulations, and placement of a right ventricle-to-pulmonary artery conduit. Surgery is typically performed by 2 to 3 months of age to prevent pulmonary vascular obstructive disease. Patients also require multiple re-operations to replace the right ventricle-topulmonary conduit. Operative mortality is greater with associated anomalies, such as interruption of the aortic arch. Ebstein's anomaly A rare malformation of the tricuspid valve in which abnormal delamination of the valve leaflets leads to severe valvular regurgitation. [22] In addition, it is a form of right ventricular and sometimes bi-ventricular cardiomyopathy. Most patients also have an ASD and become cyanotic if blood shunts right-to-left through the ASD. Patients have split first and second heart sounds. CXR reveals a markedly enlarged heart with a prominent right-sided border and decreased pulmonary vascularity. ECG shows tall "p" waves in limb lead II [23] and a right bundle branch block pattern. Wolff Parkinson White syndrome is found in at least 15% of patients. Echocardiography is the imaging modality of choice for evaluating the valvular structural abnormalities. There is a wide range of anatomical and physiological severity. Patients with minimal cardiomegaly and tricuspid regurgitation lead normal lives without needing surgery. Newborns with severe forms of Ebstein's anomaly require prostaglandin E1 to augment pulmonary blood flow until pulmonary vascular resistance falls, and some do well without surgery. However, management may prove difficult in a subset of patients with massive cardiomegaly. Total anomalous pulmonary venous connection (TAPVC)

Comprising <1% of all CHD, TAPVC occurs when all the pulmonary veins connect to the systemic venous system or the right atrium. TAPVC can be sub-divided into supra-cardiac, cardiac, infra-cardiac, and mixed types, of which the supra-cardiac is the most common. TAPVC results in fully oxygenated blood from the lungs being directed back to the right atrium, and survival requires a defect in the atrial septum, [16] without which blood cannot reach the aorta. TAPVC can be complicated by obstruction of the veins that drain the pulmonary venous confluence, resulting in pulmonary HTN and congestion. Patients with unobstructed pulmonary veins and a large intra-atrial communication have mild cyanosis and increased pulmonary blood flow. Examination reveals a prominent right ventricle impulse and a systolic ejection murmur. A CXR shows moderate cardiomegaly and increased pulmonary vascular markings. The supra-cardiac form of TAPVC classically reveals a "snowman" configuration. Patients require surgery but have excellent long-term survival. Patients with obstructed pulmonary venous blood flow present with respiratory distress secondary to pulmonary oedema. This is common in newborns who have an infra-cardiac connection, and patients require emergency surgical repair. [16] Mortality is as high as 40%, despite prompt surgery. Tricuspid valve atresia Results in the absence of a direct communication between the right atrium and right ventricle. This anomaly represents approximately 3% of all CHD. Initial survival is dependent on an intra-atrial communication. Presentation and treatment depend on the relationship of the great arteries (normal or transposed), presence of a VSD, and severity of pulmonary valve stenosis. Typically, patients present with cyanosis. The apical impulse may be prominent. The second heart sound may be single or split. A systolic murmur may be due to a VSD or pulmonary stenosis, while a mid-diastolic apical murmur may be due to increased pulmonary blood flow and CHF. CXR reveals cardiomegaly with a prominent right atrial border. Pulmonary vascular markings vary depending on the degree of pulmonary stenosis. ECG is characterised by left axis deviation and an initial counter-clockwise frontal plane loop. There may be left ventricle hypertrophy. If the source of pulmonary blood flow is not reliable, the patient should be treated with prostaglandin E1 until a systemic-to-pulmonary artery shunt can be established. Those with transposed great arteries have unrestricted pulmonary blood flow and require pulmonary artery banding to prevent pulmonary vascular obstructive disease and/or pulmonary oedema, along with anti-congestive medicines. All patients ultimately need a modified Fontan's operation. Long-term survival exceeds 85% at 10-year postsurgery follow-up. Long-term complications of the Fontan's operation include atrial arrhythmia, proteinlosing enteropathy, and left ventricular dysfunction. Hypoplastic left heart syndrome (HLHS) Refers to a spectrum of lesions that includes an intact ventricular septum with under-development of the left ventricle, and mitral and aortic valves. Patients commonly have coarctation of the aorta. Newborns

can appear normal for several days after birth but are dependent on a PDA. Once the ductus closes, they develop shock. Examination reveals diminished lower extremity pulses and an increased right ventricular impulse. Untreated, HLHS is lethal, although mortality has been markedly reduced in the last decade. Patients require a staged surgical approach. [24] Stage 1 is a Norwood procedure, consisting of reconstruction of the aortic arch using the main pulmonary artery and a modified Blalock-Taussig shunt supplying blood flow to the pulmonary artery branches. Recently, placement of a right ventricle to pulmonary artery (Sano) shunt has been used as an alternative to a Blalock-Taussig shunt during stage 1 palliation. [25] Stage 2 consists of replacing the modified Blalock-Taussig shunt (or Sano shunt) with a bidirectional cavopulmonary (Glenn) anastomosis. Stage 3 consists of a modified Fontan's operation, which directs lower extremity venous return to the pulmonary arteries. In recent years, hybrid surgical/interventional catheterisation procedures have been utilised with branch pulmonary artery bands to restrict pulmonary blood flow, and stent deployment to maintain ductal patency, although the utility of this approach remains unclear. Cardiac transplantation is sometimes pursued as an alternative strategy to staged surgery. [26] Left ventricular outflow tract (LVOT) obstruction Includes of 4 sub-types: aortic valve stenosis, supravalvular stenosis, discrete subvalvular stenosis, and tunnel subaortic stenosis. Aortic valve stenosis is the most common and represents 5% of all CHD. [27] The leaflets or cusps are usually malformed or thickened. Approximately 2% of the general population has a bicuspid aortic valve, but many of these individuals never develop clinically significant aortic valve stenosis or regurgitation. Supravalvular stenosis occurs as an area of discrete or diffuse narrowing just distal to the sinotubular junction in the ascending aorta. It is frequently associated with Williams syndrome or a defect in the elastin gene on chromosome 7. Discrete subvalvular stenosis occurs when there is a fibromuscular ridge that causes obstruction just below the aortic valve. Turbulence of blood flow can cause damage to the valve leaflets of the aortic valve, resulting in progressive aortic regurgitation. Tunnel subaortic stenosis refers to a longer stenotic segment of the outflow tract when compared to discrete subvalvular stenosis. Presentation depends on the severity of the obstruction. Most patients are asymptomatic. Older patients may present with chest pain or syncope. A sub-set of patients present with poor left ventricular function, low cardiac output, and signs of shock and congestive heart failure ("critical" aortic stenosis). Examination reveals a crescendo-decrescendo systolic murmur, heard best at the left sternal border with radiation to the upper right sternal border. Moderate or severe stenosis results in a palpable thrill and delayed pulses. An ejection click may also be heard just after the first heart sound in patients with aortic valve stenosis. The click does not vary with respiration, in contrast to a pulmonary valve ejection click. Patients with concurrent aortic regurgitation also have a decrescendo diastolic murmur and a wide pulse pressure.

ECG inconsistently shows evidence of left ventricular hypertrophy. Severe LVOT stenosis is associated with flattening or inversion of the T waves in leads V5 and V6. [28] CXR may reveal a prominent aorta as a result of post-stenotic dilation. Echocardiography helps accurately evaluate aortic valve morphology and estimate the pressure gradient across the LVOT. In valvular aortic stenosis, the Doppler-estimated mean gradient is utilised to assess severity. The gradient will vary with the cardiac output. Patients with "critical" aortic stenosis require emergency relief of the stenosis. Symptomatic patients also require relief of the obstruction, regardless of the degree of the stenosis. Infants with severe valvular stenosis require balloon valvuloplasty, although surgery may be required for co-existent aortic regurgitation. Surgical valvotomy or valve replacement is considered for older children and adults. Patients with severe stenosis followed in the Second Natural History Study of Congenital Heart Defects had a 25-year survival rate of 81%. [29] Aortic coarctation see our comprehensive coverage of Aortic coarctation Constitutes 5% of CHD and is more common in males; aortic coarction is associated with Turner's syndrome in females. It consists of a posterior ledge of tissue that protrudes into the aorta and is typically described as juxtaductal because it occurs across the ductus arteriosus. It is commonly associated with a bicuspid aortic valve (in 70% of patients) and less commonly with a VSD or subvalvular aortic stenosis. Patients with mild obstruction may not present until adolescence with a heart murmur or systemic HTN. In those with severe obstruction, the PDA is the major source of systemic blood flow distal to the obstruction, which means that neonates develop metabolic acidosis and shock as the ductus closes. The lower extremities have lower oxygen saturation and decreased pulses, in addition to CHF in patients with severe obstruction. It is important to take the BP in both upper extremities and 1 leg before making the diagnosis as it is easy to miss the diagnosis in patients with a coarctation proximal to the left subclavian artery or those with an anomalous origin of the right subclavian artery. Turbulent blood flow through the area of coarctation produces a systolic murmur. Patients with an associated bicuspid aortic valve have an ejection click. Infants, paradoxically, have right ventricular hypertrophy on ECG and echocardiography because of the PDA supplying the aorta distal to the obstruction. Older patients have signs of left ventricular hypertrophy. CT and MRI may be useful in defining the anatomy of the coarctation in older and larger patients. Native coarctation is amenable to surgical repair or balloon dilation. Repair in the newborn period is associated with an increased incidence of recurrence. Recurrence is best treated by balloon dilation with or without stent placement. Despite repair, all patients with coarctation are at an increased risk of stroke, early onset CAD, MI, and systemic HTN, compared to the general population. [30] Life-long follow-up, even in patients who do not have a residual obstruction, is extremely important. Pulmonary valve stenosis

see our comprehensive coverage of Pulmonary stenosis Represents up to 8% of all CHD and is commonly found in patients with Noonan's syndrome. Most children present with an asymptomatic murmur. However, neonates with critical pulmonary valve stenosis present with cyanosis secondary to a right-to-left shunting of blood at the atrial level. Examination reveals an increased right ventricular impulse, a click following the first heart sound that varies with respiration, a normally split to a widely split second heart sound depending on the severity, and a crescendo-decrescendo ejection murmur. With increasing severity of stenosis, the pulmonary ejection click occurs earlier in systole; in the most severe cases, the click may merge with the first heart sound and become inaudible. [31] Conversely, the second heart sound splits more widely with increasing severity of stenosis and may become fixed in severe stenosis. In very severe stenosis, the pulmonary component of the second sound may become difficult to hear due to the loud murmur that spills into diastole. A fourth heart sound may be heard in patients with right ventricular failure. ECG may reveal right axis deviation and a CXR may show signs of right ventricular enlargement. Typically, there is post-stenotic dilation of the pulmonary arteries. Balloon valvuloplasty is the preferred treatment, and 85% of patients do not require further intervention. The long-term outcome is excellent.