Ventricular septal defects

Highlights
Summary Overview

Basics
Definition Epidemiology Aetiology Pathophysiology Classification

Prevention
Primary Screening Secondary

Diagnosis
History & examination Tests Differential Step-by-step Guidelines Case history

Treatment
Details Step-by-step Guidelines

Follow Up
Recommendations Complications Prognosis

Resources
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History & exam

Key factors
presence of risk factors systolic murmur left parasternal region failure to thrive shortness of breath

Other diagnostic factors

recurrent pulmonary infections loud pulmonary component of the second heart sound cyanosis finger clubbing recent myocardial infarction (usually within 2-5 days) recent trauma History & exam details

Diagnostic tests
1st tests to order
echocardiography chest x-ray ECG

Tests to consider
cardiac MRI cardiac catheterisation

Emerging tests
cardiac CT scan Diagnostic tests details

Treatment details
Acute
congenital: small observation prophylactic antibiotics congenital: medium or large o o o o o asymptomatic corrective closure prophylactic antibiotics symptomatic with left-to-right shunt preoperative medical therapy corrective closure prophylactic antibiotics symptomatic with right-to-left shunt (Eisenmenger's syndrome)

o o o o acquired o o o o

supportive medical therapy with pulmonary vasodilators prophylactic antibiotics monitoring and treatment of hyper-viscosity heart-lung transplantation

due to myocardial infarction corrective closure following intra-aortic balloon pump insertion CABG prophylactic antibiotics traumatic corrective closure prophylactic antibiotics

Treatment details

Summary
A defect in the interventricular septum that allows shunting of blood between the left and right ventricles. Usually congenital, but rarely acquired after myocardial infarction or trauma. May be associated with other congenital defects such as tetralogy of Fallot. Significant left-to-right shunting results in pulmonary hypertension, which, if left untreated, can progress to shunt reversal with cyanosis and the Eisenmenger's syndrome. Small shunts may close spontaneously in childhood and can be managed by observation. Large shunts require surgical closure.

Definition
Ventricular septal defects (VSDs) are congenital or acquired defects in the inter-ventricular septum that allow shunting of blood between the left and right ventricles. Eisenmenger's syndrome is shunt reversal (blood flowing from the right to the left ventricle) leading to the distribution of de-oxygenated blood to the systemic arterial circulation.

Epidemiology
VSDs are among the most common congenital heart defects in infants and children, and an isolated VSD is seen in up to 3.5 infants per 1000 live births. [2] Most of these close spontaneously in childhood. [3] VSD may also accompany other congenital defects. Type 2 (peri-membranous) defects are the most common VSDs, accounting for 70% of VSDs. Type 4 (muscular) defects account for 20%, while type 1

(supracristal or doubly committed juxta-arterial) defects and type 3 (inlet type) defects account for 5% each. [4] Down's syndrome is commonly associated with atrioventricular septal defects, which are seen in between one third and one half of all patients. These may be atrial septal, ventricular septal, or both. [5] Overall, atrioventricular septal defects are thought to be present in about 0.25 to 0.43 per 1000 live births. [6] [7] Acquired VSDs, due to MI or trauma, are rare.

Aetiology
Congenital VSDs are usually developmental congenital conditions. No definite cause is known. In families with a strong history of congenital cardiovascular malformations, the incidence of VSDs is increased. Certain genetic abnormalities have a high incidence of associated VSD, the most common being Down's syndrome, which is associated with congenital cardiovascular malformations in about 50% of cases. [8] Acquired In rare cases, a VSD can occur as a result of acute MI. This usually occurs 2 to 5 days after the infarction and is marked by the onset of acute left-heart failure, chest pain, low cardiac output and shock. [9] VSD also occurs as a result of penetrating or, rarely, blunt trauma.

Pathophysiology
The pathophysiologies of all VSDs are essentially the same, regardless of location. Two factors determine the haemodynamic effects of a VSD: the size of the defect and the pulmonary vascular resistance. If the defect is able to limit the transmission of pressure from the left to the right side of the heart, it is called a restrictive defect. A small restrictive defect (Qp:Qs ratio <1.5) leads to minimal left-to-right shunting across the ventricles, and is not associated with any increase in pulmonary vascular resistance or with any symptoms. If found in infancy there is high likelihood of spontaneous closure; however, it has a good prognosis, even if it persists into adulthood. A moderate restrictive defect (Qp:Qs ratio 1.5 to 2.5) will lead to left-to-right shunting and a variable amount of pulmonary hypertension. Initially, there is reactive pulmonary hypertension (pulmonary hypertension that is reversible with pulmonary vasodilators) with left-to-right shunting. Gradually, the pulmonary vascular resistance rises, resulting in decreased shunting. Persistent pulmonary hypertension eventually becomes 'fixed' pulmonary

hypertension, produced by permanent irreversible remodelling of the pulmonary vasculature. Pulmonary hypertension increases the back-pressure on the heart, causing dilatation of the cardiac chambers and, eventually, heart failure. In larger defects (Qp:Qs ratio >2.5) and in late stages, significant pulmonary hypertension occurs and pulmonary vascular resistance rises to the point that the shunt reverses (Eisenmenger's syndrome). Shunt reversal alludes to blood flowing from the right to the left ventricle, effectively 'reversing' the flow seen through most VSDs. It results in unoxygenated blood from the systemic venous return passing directly into the systemic arterial circulation without going through the lungs to be oxygenated. Oxygen saturation in the systemic arterial circulation therefore falls, resulting in cyanosis. The VSD becomes inoperable at this point. In infancy, the mechanism of pulmonary hypertension is different from in adults, and is primarily due to increased pulmonary blood flow rather than increased pulmonary vascular resistance. However, the sequelae are the same. Reduced systemic perfusion is still seen in infants, resulting in heart failure. An acute VSD resulting from an acute MI will usually result in acute left-heart failure with pulmonary oedema and shock. [9] Additional problems can arise with certain types of VSD. With type 1 defects, accompanying aortic regurgitation is common, produced by prolapse of the anterior aortic valve leaflet. With type 3 defects, there is often involvement of the atrioventricular valves and the atrial septum.

Classification
Classification according to location [1] VSDs are classified according to their location. There are 4 main types, 3 of which are known by several synonyms. Type 1
5% to 7% of isolated VSDs. Synonyms: conal defect, conal septal hypoplasia, sub-pulmonary defect, infundibular defect, supracristal defect, doubly committed juxta-arterial defect Location: lies beneath the semilunar valves in the conal or outlet septum

Often associated with aortic regurgitation produced by prolapse of the anterior aortic valve leaflet.

Type 2
70% of VSDs Synonyms: peri-membranous defect, para-membranous defect, conoventricular defect Location: confluent with the membranous septum, bordered by an atrioventricular (AV) valve.

Type 3
About 5% of VSDs Synonyms: peri-inlet defect, AV canal type defect, AV septal defect, endocardial cushion defect. Location: involves the inlet of the ventricular septum immediately inferior to the AV valve apparatus Typically occur in patients with Down's syndrome.

Type 4
20% of VSDs Synonym: muscular defect Location: completely surrounded by muscle; multiple defects may be present, producing a 'Swiss

cheese' appearance of the septum.

Simplified diagram of the left ventricular septum showing the anatomical locations of the ventricular septal defects (VSDs)From the collection of Zuhdi Lababidi, MD

Classification by aetiology Congenital

Most VSDs are the result of a developmental defect.

Acquired
Rare Necrosis of the septum following MI can produce a VSD Penetrating trauma (e.g., a stab wound) or, very rarely, blunt trauma can produce a VSD.

Classification by size VSDs can be divided into small, moderate, and large defects according to size. The magnitude of the shunt produced by a VSD is described by the ratio of the pulmonary vascular resistance, Qp, to the systemic resistance, Qs (Qp:Qs ratio).

Classification
Classification according to location [1] VSDs are classified according to their location. There are 4 main types, 3 of which are known by several synonyms. Type 1
5% to 7% of isolated VSDs. Synonyms: conal defect, conal septal hypoplasia, sub-pulmonary defect, infundibular defect, supracristal defect, doubly committed juxta-arterial defect Location: lies beneath the semilunar valves in the conal or outlet septum Often associated with aortic regurgitation produced by prolapse of the anterior aortic valve leaflet.

Type 2
70% of VSDs Synonyms: peri-membranous defect, para-membranous defect, conoventricular defect Location: confluent with the membranous septum, bordered by an atrioventricular (AV) valve.

Type 3
About 5% of VSDs Synonyms: peri-inlet defect, AV canal type defect, AV septal defect, endocardial cushion defect. Location: involves the inlet of the ventricular septum immediately inferior to the AV valve apparatus Typically occur in patients with Down's syndrome.

Type 4
20% of VSDs Synonym: muscular defect Location: completely surrounded by muscle; multiple defects may be present, producing a 'Swiss

cheese' appearance of the septum.

Simplified diagram of the left ventricular septum showing the anatomical locations of the ventricular septal defects (VSDs)From the collection of Zuhdi Lababidi, MD

Classification by aetiology Congenital

Most VSDs are the result of a developmental defect.

Acquired
Rare

Necrosis of the septum following MI can produce a VSD Penetrating trauma (e.g., a stab wound) or, very rarely, blunt trauma can produce a VSD.

Classification by size VSDs can be divided into small, moderate, and large defects according to size. The magnitude of the shunt produced by a VSD is described by the ratio of the pulmonary vascular resistance, Qp, to the systemic resistance, Qs (Qp:Qs ratio).

Primary prevention
Avoidance of alcohol in pregnancy reduces the risk of fetal alcohol syndrome and decreases the overall likelihood of congenital heart defects, including ventricular septal defects. [10]

Screening
Routine physical examination
Routine physical examination at birth and other times will generally detect the murmur of ventricular septal defects leading to the diagnosis. Everyone should be screened at birth for congenital heart defects. An echocardiogram is necessary only if the child has a murmur, or has unexplained failure to thrive or heart failure signs.

Secondary prevention
In case of a febrile illness, endocarditis should be suspected and blood cultures obtained before initiating antibiotic therapy. Depending on the degree of suspicion, transthoracic or transoesophageal echocardiography should be performed. [34] Prophylaxis is now only indicated in patients at particularly high risk of developing endocarditis: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. [1]

History & examination

Key diagnostic factorshide all
presence of risk factors (common)

Risk factors include a family history of congenital heart defects, the presence of Down's syndrome, and maternal use of alcohol during pregnancy.

systolic murmur left parasternal region (common)

This murmur is generally holosystolic and does not increase with inspiration (unlike tricuspid regurgitation).

The murmur is generally easily heard; a smaller defect generally results in a louder murmur. failure to thrive (common)

Congenital heart disease should always be excluded in infants and children with unexplained failure to thrive.

shortness of breath (common)

Shortness of breath on exertion tends to occur in patients with a long-standing moderate-sized shunt. Infants may also have tachypnoea and shortness of breath with feeding and effort.

Other diagnostic factorshide all

recurrent pulmonary infections (common)

May be attributable to shunt reversal in patients with large un-operated defects, especially when accompanied by physical signs of finger clubbing and/or cyanosis.

loud pulmonary component of the second heart sound (common) A sign of pulmonary hypertension, which typically develops in cases of significant left-to-right shunt. cyanosis (uncommon)

Occurs in cases of shunt reversal (Eisenmenger's syndrome). The cause is a large uncorrected VSDs shunt that produces severe pulmonary hypertension, increasing the right-heart pressure to the point that un-oxygenated blood is forced straight into the left heart and systemic circulation.

Decreased blood flow in the pulmonary circulation contributes further to the cyanosis. finger clubbing (uncommon) Finger clubbing is associated with a range of cyanotic congenital heart diseases, including VSDs. recent myocardial infarction (usually within 2-5 days) (uncommon) A recent history of MI may indicate an acquired VSD. recent trauma (uncommon)

Risk

Rarely, a VSD can be caused by trauma. factorshide all

Strong family history of congenital heart disease

Congenital heart defects, including VSDs, are more likely in patients with a positive family history of such defects. [8]

Down's syndrome (trisomy 21)

A large proportion of patients with Down's syndrome are born with congenital heart disease, including type 3 VSDs; 35% of patients with type 3 defects have Down's syndrome. [8]

Weak maternal alcohol consumption during pregnancy

Alcohol use in the mother during pregnancy is associated with an increased incidence of congenital heart defects, including VSD. [10]

Diagnostic tests
1st tests to orderhide all
Test

echocardiography

The single most important and useful test in the diagnosis and follow-up of patients with VSDs; 2D imaging and c

flow Doppler are usually diagnostic: the defect is clearly visualised on 2D views, View imageView imageView ima shunt. View image The degree of shunting can be estimated by Doppler, and a Qp to Qs ratio can be determined. Also diagnoses associated conditions (e.g., tetralogy of Fallot) and complications (chamber enlargement, aortic regurgitation).

image and spectral-wave Doppler serves to confirm a high-velocity jet across the VSD demonstrating the left-to-r

Continuous-wave Doppler of the tricuspid regurgitation jet can be used to assess the degree of pulmonary hyper chest x-ray In patients with small VSDs, the chest x-ray may be normal. In patients with significant defects, there may be cardiomegaly and increased vascular markings.

In patients with Eisenmenger's syndrome, the chest x-ray may show a prominent pulmonary conus with peripher of the pulmonary vascular markings.

ECG Not diagnostic of a VSD, but provides supportive evidence of chamber enlargement if present. The ECG may be normal in small, non-restrictive defects. In moderate-sized defects, there may be evidence of left ventricular and also sometimes left atrial enlargement. In cases of larger shunts, there may be evidence of bi-ventricular hypertrophy. In a few patients, there may be predominant right ventricular hypertrophy.

Tests to considerhide all

Test

cardiac MRI echocardiography leaves some doubt.

Not commonly utilised as the initial diagnostic modality but may be very useful in cases with complex defects or w

cardiac catheterisation Reserved for cases in which a discrepancy exists between clinical presentation and the assessment of the VSD non-invasive testing, or for patients with difficult echocardiographic windows. [12] exclude significant concomitant CAD in older patients. Measurement of pulmonary vascular resistance is used to assess suitability for surgical correction.

Confirms the location of the shunt and the degree of pulmonary hypertension. View imageView image Also serve

Emerging testshide all

Test

cardiac CT scan assessment of coronary arteries.

An emerging investigative modality. Not currently used as a first-line diagnostic test. Has the advantage of allowi

Differential diagnosis
Condition Differentiating signs/symptoms Differentiating tests

Atrial septal defect

The murmur is usually higher up in the left parasternal region and results from flow across the pulmonic valve. Therefore, the murmur is much softer, mid or ejection systolic instead of holosystolic, and the second heart sound may have a wide and fixed (not changing with breathing) split.

An echocardiogram will demonstrate the defect and site of shunting b

Patent ductus arteriosus

Associated with a continuous systolic and diastolic murmur at the base of the heart.

An echocardiogram will show the defect at the level of the ductus arte

Mitral regurgitation

Mitral regurgitation results in a holosystolic murmur most prominent at the mitral area, and may radiate to the axilla or the lower left sternal border depending on the eccentricity of the mitral regurgitation jet.

An echocardiogram will reveal posterior motion of valve leaflets durin evidence of VSDs.

Tricuspid regurgitation

Tricuspid regurgitation results in a holosystolic murmur at the lower left parasternal region. A characteristic finding in tricuspid regurgitation shared with other right-sided murmurs is an

An echocardiogram will demonstrate regurgitant flow across the tricus evidence of a VSD.

increase in the murmur intensity with inspiration (Carvalho's sign). Pulmonic stenosis

Ejection systolic murmur at the left upper parasternal border.

An echocardiogram will demonstrate turbulence of colour flow and a g pulmonic valve without evidence of a VSD.

Tetralogy of Fallot

Typical infant presents in the newborn period with a murmur and cyanosis. The diagnosis may have been made antenatally on fetal echocardiogram . Some infants present at a later age with increasing cyanosis, murmur, or hypercyanotic spells. May be associated with genetic syndromes such as DiGeorge syndrome.

Echocardiogram will show the presence of the 3 other key findings in

(i.e., presence of pulmonic stenosis, overriding aorta, and right ventric

Physical examination

may reveal significant tachypnoea and cyanosis in severe cases, an increased right ventricular (parasternal) impulse, a single second heart sound, and a harsh systolic ejection murmur heard best at the left sternal border. The intensity of the murmur depends on the degree of pulmonary stenosis and decreases with severe stenosis.

Step-by-step diagnostic approach

Most patients with VSDs will present in infancy and childhood following the detection of a murmur on routine examination. It is unusual for a VSD to present in adults. Most small defects spontaneously close by age 1 to 2 years; most moderate defects have already been diagnosed and treated before adulthood and most large untreated defects result in increased mortality in childhood, and are therefore no longer seen in adults. [11] If a VSD does present in adulthood, the context is usually one of the following:
Restrictive defects that failed to close in childhood but are not haemodynamically important; these pose a risk of endocarditis Moderate-sized defects not yet closed; these patients typically have mild pulmonary hypertension

Large defects that lead to Eisenmenger's syndrome (right-to-left shunt) and are inoperable Patients who have had their defects closed in childhood but are under follow-up, some of whom may have or develop residual shunting from patch leaks. [11]

The diagnosis is usually suspected by the detection of a murmur on physical examination and confirmed by echocardiography. View image Chest x-ray and ECG provide supportive evidence of chamber enlargement but are not diagnostic. If the images obtained by echocardiography are inconclusive, or further assessment of complex associated abnormalities is required, MRI can be used. Cardiac catheterisation is used to confirm the estimation of the shunt in cases where the shunt estimation obtained by echocardiography was inadequate or did not concur with the clinical presentation.

History
There is often a history of a systolic murmur, usually present since birth. The patient may have no symptoms or, in cases of a moderate-sized defect, may develop shortness of breath with exertion as a result of heart failure or failure to thrive. If a large un-operated defect is present, shunt reversal should be suspected if there is a history of recurrent pulmonary infection and signs of cyanotic heart disease. A VSD secondary to MI presents 3 to 5 days after the initial MI with symptoms of heart failure or, in severe cases, cardiogenic shock. Traumatic VSDs can present at a variety of time frames from immediate to delayed; the presence and severity of symptoms depend on the size of the VSD.

Physical examination
A holosystolic murmur can be heard at the lower left parasternal border. This may be accompanied by a palpable thrill. The pulmonic component of the second heart sound may be loud due to pulmonary hypertension. There may be signs of cardiomegaly, including displacement of the apical impulse downward and laterally on the praecordium and, in case of right ventricular hypertrophy, a parasternal heave. Tachypnoea may be present in infants who develop heart failure. Shunt reversal should be suspected if there is evidence of cyanosis, which is sometimes accompanied by clubbing of the nails.

Initial investigations
Echocardiogram

Echocardiography is the investigation of choice to confirm the diagnosis and evaluate the shunt as well as associated abnormalities. The defect can be seen on 2D images, and the shunt visualised on colour flow imaging. View imageView imageView image When directed at the defect in the parasternal views, spectral Doppler will show a high-velocity systolic jet based on the gradient between the left ventricle and right ventricle above the baseline in systole. View imageAdditionally, chamber sizes can be assessed, and the tricuspid regurgitation jet can be used to determine the pulmonary arterial systolic pressure. In case of a type 1 defect, associated aortic regurgitation can be evaluated. Associated conditions such as tetralogy of Fallot can also be diagnosed.

The magnitude of the shunt produced by a VSD is described by the ratio of the pulmonary vascular resistance, Qp, to the systemic resistance, Qs (Qp:Qs ratio); this measurement is obtained by Doppler echocardiography.

Echocardiography should be ordered in every patient suspected of having a VSD (regardless of whether it is isolated or occurs in the context of a more complex condition) as it helps to establish or confirm the diagnosis, and guides appropriate management.

Chest x-ray
The chest x-ray may show a normal-sized cardiac silhouette, or show enlargement of the heart. If the shunting is significant, it may be accompanied by prominence of pulmonary vascular markings and pulmonary congestion.

ECG
The ECG may be normal, or may show evidence of left atrial enlargement and left ventricular hypertrophy, or may show bi-ventricular hypertrophy. The ECG is not diagnostic of a VSD, but provides supportive evidence of chamber enlargement (if present).

Subsequent investigations
Cardiac MRI
Although not commonly used in clinical practice for this purpose, MRI is an excellent modality to assess a VSD and also to quantify the shunt. It is reserved for cases with complex defects in need of further assessment, or where echocardiography is inconclusive.

Cardiac CT scanning
Cardiac CT scanning is an emerging investigative modality and is not currently used as a first-line diagnostic test. It has the advantage of allowing assessment of coronary arteries.

Right-heart cardiac catheterisation

This is usually not needed, and is reserved for cases in which confirmation of shunt estimation is required, usually due to a discrepancy between the clinical presentation and the assessment of the VSD provided by imaging, or because imaging was inadequate in patients with difficult echocardiographic windows.

An oximetric run on cardiac catheterisation (continuous monitoring of oxygen saturation as the catheter is moved) will demonstrate a 'step-up' in oxygen saturations in the right ventricle (i.e., the right ventricular saturation will be significantly higher than the right atrial saturation due to mixing of oxygenated blood from the left ventricle).

Contrast angiography of the left ventricle will demonstrate the location of the VSD and the site of shunting with contrast going into the right ventricle from the left ventricle. View imageView image It may also demonstrate the presence of an aneurysm of the ventricular septum. View imageView image

Pulmonary arterial pressures can be measured to provide an index of pulmonary vascular resistance. This information is useful to assess suitability for surgical correction.

If significant pulmonary hypertension is present, responsiveness to vasodilators (oxygen or nitric oxide) can be used to distinguish reactive from 'fixed' pulmonary hypertension; patients whose pulmonary hypertension is reactive may benefit more from surgery.
Click to view diagnostic guideline references.

Case history #1

An infant is noted at birth to have a cardiac murmur. Physical examination reveals a systolic murmur at the left sternal border. There is no clinical evidence of heart failure.

Case history #2
An infant presents with symptoms of shortness of breath on exertion, and failure to thrive. Physical examination reveals a systolic murmur at the left sternal border and signs of congestive heart failure.

Other presentations
Eisenmenger's syndrome presents with central cyanosis, with or without finger clubbing, and patients may have evidence of heart failure and a history of recurrent pulmonary infections. Hyper-viscosity associated with Eisenmenger's syndrome manifests with headache, fatigue, and sometimes mental-status changes. Usually, the patient will have a documented history of a VSD that was not corrected. A VSD secondary to MI presents 3 to 5 days after the initial MI with symptoms of heart failure or, in severe cases, cardiogenic shock. Traumatic VSDs can present at a variety of time frames from immediate to delayed; the presence and severity of symptoms depend on the size of the VSD.

Treatment Options

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1]

adjunct [?]

prophylactic antibiotics

Endocarditis is a complication of VSDs, and a high index of suspicion must be maintained. Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli (Osler nodes, Roth spots, or Janeway lesions).

Prophylactic antibiotics are now only indicated in patients at particularly high risk of developing endocarditis. [1] In patients with a small VSD, this includes patients with a previous history of infective endocarditis. Prophylaxis is no longer recommended for routine GI procedures. Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

congenital: medium or large asymptomatic 1st

corrective closure

VSDs should be closed to prevent progression to

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] severe pulmonary hypertension, heart failure, and Eisenmenger's syndrome. [1]

Indicated when Qp to Qs shunt ratio is >1.5, PA systolic pressure >50 mmHg, increased LV and left atrial size, or deteriorating LV systolic function. [1] Once the ratio of pulmonary to systemic vascular resistance >0.7, the risks of surgical closure become prohibitive. [2]

The usual procedure is open surgery in which a patch (bovine pericardium or synthetic material) is used to close the VSD. [1]

Percutaneous device closure is an option for type 4 (muscular) and some forms of type 2 (perimembranous) defects, especially if the defect is away from the tricuspid valve and the aorta. [14] [15] [16] [17]

adjunct [?]

prophylactic antibiotics

Endocarditis is a complication of VSDs, and a high index of suspicion must be maintained. Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli (Osler nodes, Roth spots, or Janeway lesions).

Prophylactic antibiotics are now only indicated in patients at particularly high risk of developing endocarditis. [1] This includes patients with a previous history of infective endocarditis, patients

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] within 6 months following patch repair or percutaneous device closure, and patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

symptomatic with left-to-right shunt

1st

preoperative medical therapy

The most commonly encountered situation in which preoperative medical therapy is required is with congestive heart failure in infants and children; these therapies are almost never required in adults.

Medical therapy is not curative and is used to control heart failure symptoms prior to surgery. Medicines include diuretics, and in some cases angiotensin-converting enzyme (ACE) inhibitors and digoxin.

Anaemia, if present, should be corrected by red blood cell transfusion, or by iron therapy in case of iron-deficiency anaemia.

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] Primary Options furosemide : children and adults: consult specialist for guidance on dose Secondary Options furosemide : children and adults: consult specialist for guidance on dose -- AND -captopril : children and adults: consult specialist for guidance on dose or enalapril : children and adults: consult specialist for guidance on dose -- AND -digoxin : children and adults: consult specialist for guidance on dose

plus [?]

corrective closure

The development of heart failure symptoms is an indication for surgery. Surgery can be performed once heart failure symptoms have been controlled with therapy.

Once the ratio of pulmonary to systemic vascular resistance exceeds 0.7, the risks of surgical closure become prohibitive. [2]

The usual procedure is open surgery in which a patch (bovine pericardium or synthetic material) is

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] used to close the ventricular septal defects. [1]Percutaneous device closure is an option for type 4 (muscular) and some forms of type 2 (peri-membranous) defects, especially if they are away from the tricuspid valve or the aorta. [14] [15] [16] [17]

adjunct [?]

prophylactic antibiotics

Endocarditis is a complication of ventricular septal defects, and a high index of suspicion must be maintained.

Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli (Osler nodes, Roth spots, or Janeway lesions).

Prophylactic antibiotics are now only indicated in patients at particularly high risk of developing endocarditis. [1] This includes patients with a previous history of infective endocarditis, patients within 6 months following patch repair or percutaneous device closure, and patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

symptomatic with right-to-left shunt (Eisenmenger's syndrome)

1st

supportive medical therapy with pulmonary vasodilators

It is too late for surgical treatment due to development of right-to-left shunting and severe pulmonary hypertension and pulmonary vascular remodelling. [1]

Treatment is largely supportive. Newer vasodilators have shown great promise in therapy of pulmonary hypertension. [18] Those that have been demonstrated to be of benefit in Eisenmenger's syndrome include the endothelin antagonist bosentan, [19] the phosphodiesterase-5 inhibitor sildenafil, [20] and, in limited studies, infusions of the prostanoid epoprostenol. [21] However, the US Food and Drug Administration (FDA) no longer recommends the use of sildenafil for this indication in paediatric patients due to an increased risk of mortality with higher doses in one trial.[FDA drug safety communication: FDA recommends against use of Revatio in children with pulmonary hypertension] (external link) [22]

Patients with cyanosis require prophylaxis against endocarditis.

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] Primary Options bosentan : children: consult specialist for guidance on dose; adults: 62.5 mg orally twice daily initially, increase to 125 mg twice daily if tolerated after 3-4 weeks More OR sildenafil : adults: 20 mg orally three times daily Secondary Options epoprostenol : children and adults: consult specialist for guidance on dose

plus [?]

prophylactic antibiotics

Endocarditis is a complication of ventricular septal defects, and a high index of suspicion must be maintained.

Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli: Osler nodes, Roth spots, or Janeway lesions.

Antibiotic prophylaxis is indicated in all patients. [1] Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

adjunct [?]

monitoring and treatment of hyper-viscosity

Patients with Eisenmenger's syndrome frequently develop erythrocytosis to compensate for the hypoxaemia, and some of them develop hyperviscosity. Hyper-viscosity manifests with headache, fatigue, and sometimes mental-status changes. When symptomatic, it can be treated by phlebotomy and intravenous infusion of saline. Routine phlebotomy for asymptomatic erythrocytosis is not indicated. Anaemia and volume depletion can cause similar symptoms and should be excluded before starting this type of therapy.

2nd

heart-lung transplantation

In some patients who are severely symptomatic, heart-lung transplant may be considered and, when feasible, surgical correction of the ventricular septal defects together with lung transplant may be considered. [30] The survival of patients with Eisenmenger's syndrome who receive a heart-lung transplant is similar to that of other heart-lung transplant recipients, despite a more difficult

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] operative course. [23] [24]

acquired due to myocardial infarction 1st

corrective closure following intra-aortic balloon pump insertion CABG

Patients generally present with acute left-heart failure, and mortality without surgery is extremely high. [9] Mortality is much lower with urgent surgery.

Generally, patients undergo coronary angiography and intra-aortic balloon pump insertion prior to surgery in order to define coronary anatomy for possible CABG and to stabilise the patient with the intra-aortic balloon pump. CABG is carried out at the same time as the corrective closure. [9]Concomitant coronary revascularisation appears to improve outcomes. [25]

Percutaneous device closure is an option if the risks of open surgical closure are too high. [26] [27] [31] These patients still receive an angiogram and intra-aortic balloon insertion.

adjunct [?]

prophylactic antibiotics

Endocarditis is a complication of ventricular septal defects, and a high index of suspicion must be maintained.

Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli (Osler

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1] nodes, Roth spots, or Janeway lesions).

Prophylactic antibiotics are now only indicated in patients at particularly high risk of developing endocarditis: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. [1] Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

traumatic

1st

corrective closure

A traumatic ventricular septal defect is generally treated with surgical repair of the defect in patients with significant-sized defects. Small defects with insignificant shunts may be managed conservatively.

adjunct

prophylactic antibiotics

Treatment Patient group congenital: small line 1st Treatmenthide all

observation

In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. [1]

Small restrictive defects detected at birth without symptoms close spontaneously in most cases, and the prognosis of those that fail to close is excellent. [1]

[?]

Endocarditis is a complication of ventricular septal defects, and a high index of suspicion must be maintained.

Infective endocarditis often presents nonspecifically, and most commonly involves fever with possible physical signs of peripheral emboli (Osler nodes, Roth spots, or Janeway lesions).

Prophylactic antibiotics are now only indicated in patients at particularly high risk of developing endocarditis: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. [1] Primary Options amoxicillin : children: 50 mg/kg orally one hour before procedure; adults: 2 g orally one hour before procedure OR clindamycin : children: 20 mg/ kg orally one hour before procedure; adults: 600 mg orally one hour before procedure More

Acute

Treatment approach
Initially, the diagnosis of a VSD should be confirmed by echocardiography and an assessment made of the degree of shunting and the presence and degree of any associated pulmonary hypertension. The magnitude of the shunt produced by a VSD is described by the ratio of the pulmonary vascular resistance, Qp, to the systemic resistance, Qs (Qp:Qs ratio). In patients with small defects, observation is all that is required. In patients with significant shunts with Qp to Qs ratios >1.5 (moderate and large defects), surgical closure of the VSD is generally recommended. If the patient presents with symptoms of heart failure, the heart failure must be treated prior to surgical closure. In cases of severe pulmonary hypertension and Eisenmenger's syndrome, closure of the VSD is not recommended, and pulmonary vasodilators such as bosentan or sildenafil may be used to provide supportive treatment. For advanced disease with Eisenmenger's syndrome, heart-lung transplantation could be considered. [1] Children with VSD growing into adulthood should be transitioned to adult cardiology. [13]

Patients with small congenital defects

Patients with small defects (Qp:Qs ratios <1.5) can be managed with observation. In infants, most small defects close spontaneously, and most of those that persist are of no haemodynamic importance. [1]

Asymptomatic patients with moderate or large congenital defects

Patients with moderate or large defects have significant left-to-right shunt, and a left-to-right shunt ratio exceeding 1.5 to 2.0 is considered an indication for corrective closure. Other indications for closure include: a pulmonary artery systolic pressure above 50 mmHg; evidence of left ventricular and/or left atrial enlargement; and evidence of deteriorating left ventricular function. The usual procedure is open surgery in which a patch (bovine pericardium or synthetic material) is used to close the VSD. [1] Percutaneous device closure of a VSD is an alternative option, in which an occluder device is placed through percutaneous access to close the VSD. The percutaneous approach may be used in patients who have type 2 or type 4 defects that are not in close proximity to the valves. It has also been utilised in cases with too high a risk for surgical closure due to serious comorbidities. [14] [15] [16] [17]

Symptomatic patients with moderate or large congenital defects

Patients who present with symptoms of congestive heart failure are treated medically prior to surgical correction. Furosemide is the first-line treatment. Angiotensin-converting enzyme (ACE) inhibitors and digoxin can be added depending on the clinical response. Surgical closure is recommended in any patient who exhibits failure to thrive, has chamber enlargement or heart failure symptoms, or develops endocarditis as a complication. [1] Once the heart failure is adequately treated, open surgery or percutaneous device closure can be used to close the VSD. [1] Anaemia, if present, should be corrected by red blood cell transfusion, or by iron therapy in case of irondeficiency anaemia. If patients progress to shunt reversal with Eisenmenger's syndrome, the VSD is inoperable and treatment is supportive. Newer vasodilators have shown great promise in the treatment of pulmonary hypertension. [18] Those demonstrated to be of benefit in Eisenmenger's syndrome include the endothelin antagonist bosentan, [19] the phosphodiesterase-5 inhibitor sildenafil, [20] and, in limited studies, infusions of the prostanoid epoprostenol. [21] However, the US Food and Drug Administration (FDA) no longer recommends the use of sildenafil for this indication in paediatric patients due to an increased risk of mortality with higher doses in one trial. [FDA drug safety communication: FDA recommends against use of Revatio in children with pulmonary hypertension] (external link) [22] In very severe cases, heart-lung transplantation can be considered. [23] [24] Patients with Eisenmenger's syndrome frequently develop erythrocytosis to compensate for the hypoxaemia, and some of them develop hyper-viscosity. Hyper-viscosity manifests with headache, fatigue, and sometimes mentalstatus changes. When symptomatic, it can be treated by phlebotomy and intravenous infusion of saline. Routine phlebotomy for asymptomatic erythrocytosis is not indicated. Anaemia and volume depletion can cause similar symptoms and should be excluded before starting this type of therapy.

Patients with acquired VSD due to MI

Surgery is required in all patients, as mortality without surgery is extremely high. [9] Mortality is much lower with urgent surgery. Generally, patients undergo coronary angiography and intra-aortic balloon pump insertion prior to open surgery, in order to define coronary anatomy for possible coronary artery bypass grafting and to stabilise the patient with the intra-aortic balloon

pump. [9] Concomitant coronary revascularisation appears to improve outcomes. [25]Percutaneous device closure is an option if the risks of open surgical closure are too high. [26][27]

Patients with acquired VSD due to trauma

VSD has been reported both after penetrating trauma such as stab wounds and, very rarely, after blunt trauma such as motor vehicle accident injuries. A traumatic VSD can manifest clinically over a range of time courses from immediate to delayed. A traumatic VSD is generally treated with surgical repair of the defect in patients with significant-sized defects. Small defects with insignificant shunts may be managed conservatively.

Prophylactic antibiotics
Due to the high flow velocity across the VSD, there is an increased risk of infective endocarditis in patients with VSDs compared with the general population. Even small defects that are not haemodynamically significant may cause endocarditis. [28] A high index of suspicion should be maintained in these patients; infective endocarditis often presents non-specifically and most commonly involves fever with possible physical signs of peripheral emboli: Osler nodes, Roth spots, or Janeway lesions. Antibiotic prophylaxis is no longer recommended in all patients with VSD, but is reserved for especially high-risk groups: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. [1] The development of endocarditis as a complication is an indication for corrective closure of the VSD regardless of its size.

Monitoring
Asymptomatic individuals should undergo annual clinical follow-up. Issues to be monitored include development of aortic regurgitation, development of tricuspid regurgitation, assessment of left-to-right shunt, ventricular dysfunction, and assessment of pulmonary pressure.

In patients who have undergone repair or closure of a VSD, the degree of residual shunting and development of heart blocks or arrhythmias are additional issues that need to be monitored.

Patient Instructions
It is important for patients to keep follow-up appointments and report any new symptoms immediately, especially shortness of breath on exertion. Patients should be advised to seek prompt medical attention in case of fever or tiredness, especially following dental work.

Complications
Complicationhide all

aortic regurgitation in type 1 defects see our comprehensive coverage of Aortic regurgitation Flow of blood through a restriction causes a reduction in fluid pressure (the Venturi effect). If a Venturi effect occurs through a left-to-right shunt in proximity to the aortic valve, the valve can prolapse, causing aortic insufficiency and regurgitation. In such cases, surgical repair of the VSD should be considered in order to prevent worsening of the aortic regurgitation. [32] complication of surgical management: heart block see our comprehensive coverage of Atrioventricular block The surgical procedure may affect the conducting tissue in the heart, thereby resulting in heart block. This may require implantation of a permanent pacemaker. Risk of heart block appears to be higher in infants and children. [33] postoperative dysrhythmias see our comprehensive coverage of Overview of dysrhythmias (cardiac) Cardiac dysrhythmias are a major source of morbidity and mortality for patients. Although rhythm disorders can often be observed with un-repaired or palliated defects, the most difficult cases usually involve patients who have undergone prior intra-cardiac repairs, especially when performed relatively late in life. Virtually the entire spectrum of rhythm disturbances can manifest in these patients. infective endocarditis see our comprehensive coverage of Infective endocarditis Due to the high flow velocity across the VSD, there is an increased risk of infective endocarditis in patients with VSDs compared with the general population. Even small defects that are not haemodynamically significant may cause endocarditis. [28] A high index of suspicion should be maintained in these patients; infective endocarditis often presents nonspecifically and most commonly involves fever with possible physical signs of peripheral emboli (Osler nodes,

Roth spots, or Janeway lesions). Antibiotic prophylaxis is no longer recommended in all patients with VSD, but is reserved for especially high-risk groups: patients with Eisenmenger's syndrome; patients with a previous history of infective endocarditis; patients within 6 months following patch repair or percutaneous device closure of VSD; or patients with a residual defect following closure. Prophylaxis is no longer recommended for routine GI procedures. [1] Three sets of blood cultures should be obtained prior to initiation of antibiotic therapy. A transoesophageal echocardiogram should be obtained in all suspected cases of infective endocarditis. Treatment is guided by presentation, clinical findings, and organism virulence.

Last u

Prognosis
Patient outlook depends on the size of the defect. Asymptomatic restrictive ventricular septal defect
This type, found in infants, closes spontaneously in about 50% of cases. Others are likely to remain asymptomatic.

Moderate-sized restrictive defect

May be asymptomatic on presentation. If left untreated over the long-term, many will develop pulmonary hypertension and later, symptoms of congestive heart failure. If treated with closure, these patients overall have an excellent outcome.

Large-sized non-restrictive defects

These tend to produce early pulmonary hypertension and early heart failure symptoms requiring early closure. If not closed, patients may develop severe pulmonary hypertension with reversal of blood shunting, resulting in cyanosis and Eisenmenger's syndrome, which is then inoperable and associated with a poor prognosis.