A ventricular septal defect (VSD) is a congenital heart defect in which there is an abnormal opening in the septum. This opening allows blood to flow from the left ventricle, which pumps oxygen-rich blood to the body, into the right ventricle, which pumps oxygen-poor blood to the lungs.
As a result, oxygen-rich and oxygen-poor blood mix in the heart, which can lead to a decrease in the amount of oxygen delivered to the body’s tissues. VSDs are usually present at birth and are considered congenital heart defects. The exact cause of VSDs is often unknown, but they can be associated with genetic factors, maternal infections, or exposure to certain medications during pregnancy.
Epidemiology
Ventricular septal defects are among the most common congenital heart defects, accounting for a significant portion of congenital heart disease cases. The prevalence can vary depending on geographical regions and populations. In general, the prevalence of VSDs is estimated to be approximately 2-3 cases per 1,000 live births.
The incidence of VSDs refers to the rate at which new cases are diagnosed or born in a specific population over a defined period. The incidence varies among different populations and may be influenced by genetic and environmental factors. VSDs can affect individuals of any gender and age but are typically identified at or shortly after birth.
Some studies have suggested that there may be a slight female predominance in VSD cases, but this gender difference is not always consistent across populations. The prevalence of VSDs can vary by region and ethnicity. Some studies have reported higher prevalence rates in certain populations, while lower rates have been observed in others.
Anatomy
Pathophysiology
The primary pathophysiological feature of a VSD is the presence of a left-to-right shunt. Oxygen-rich blood from the left ventricle is forced through the defect into the right ventricle. The right ventricle then pumps this oxygenated blood back into the lungs. As a result, there is an excessive volume of blood being sent to the lungs.
The increased blood flow to the lungs causes a volume overload in the pulmonary circulation. This can lead to pulmonary congestion and an increase in pulmonary blood pressure. Over time, chronic pulmonary congestion can result in pulmonary vascular remodeling and, in some cases, pulmonary hypertension.
The excess flow of oxygenated blood into the pulmonary circulation can lead to an increased workload for the right ventricle. This can result in right ventricular hypertrophy as the muscle thickens to handle the higher pressures. In cases of large VSDs, this can ultimately lead to right heart failure.
Although the left ventricle continues to pump blood to the systemic circulation, the left-to-right shunt can result in decreased left ventricular stroke volume, as some of its blood is diverted into the right ventricle. This can result in reduced systemic perfusion and may lead to symptoms of heart failure.
Etiology
Environmental Factors: Exposure to environmental toxins and teratogens during pregnancy may increase the risk of VSDs. These can include exposure to certain medications, chemicals, or radiation. Pregnant women need to avoid harmful substances to reduce the risk of congenital heart defects.
Multifactorial Causes: In many cases, VSDs likely result from a combination of genetic predisposition and environmental factors. This complex interplay can make it challenging to pinpoint a single cause in each case.
Genetic Factors: There is a genetic component to the development of VSDs. Individuals with a family history of congenital heart defects, including VSDs, are at a higher risk of having a child with a VSD. Some specific genetic syndromes, such as Down syndrome (Trisomy 21), can also increase the likelihood of VSDs. In these cases, specific genetic mutations or chromosomal abnormalities may be involved in the development of the defect.
Genetics
Prognostic Factors
Clinical History
Ventricular septal defects are typically congenital heart defects. The clinical history may involve prenatal factors, such as maternal infections or exposure to teratogenic substances, family history of congenital heart defects, or genetic syndromes (e.g., Down syndrome) that increase the risk of ventricular septal defect.
The clinical presentation of a VSD can range from asymptomatic to severe, depending on the size of the defect and the associated hemodynamic changes. Common signs and symptoms include:
Asymptomatic: Small ventricular septal defects may not cause noticeable symptoms and can remain undiagnosed for an extended period.
Mild Symptoms: Some individuals with small to moderate VSDs may have mild symptoms, such as a heart murmur, but may otherwise appear healthy.
Severe Symptoms: Large VSDs or those located in critical areas can lead to more severe symptoms, including:
Tachypnea
Difficulty feeding and poor weight gain in infants
Frequent respiratory infections
Symptoms of heart failure, such as fatigue, sweating, and difficulty breathing during physical activity
Small ventricular septal defect may spontaneously close over time, typically within the first few years of life. In such cases, the duration is relatively short, and the defect may no longer be present during follow-up evaluations. Larger or more significant ventricular septal defect may persist if they do not close spontaneously. The duration in these cases can be lifelong if the VSD is not treated. Some individuals with VSDs may experience intermittent symptoms or complications, particularly if they have comorbid conditions, such as pulmonary hypertension.
Physical Examination
One of the hallmark physical findings of a VSD is the presence of a heart murmur. The murmur is typically described as a pansystolic (holosystolic) murmur, meaning it occurs throughout the entire systolic phase of the cardiac cycle. The murmur is best heard at the left lower sternal border.
In small VSDs, the murmur may be harsh and loud, while in larger defects, it tends to be softer and less intense. In cases of significant left-to-right shunting of blood, especially in the presence of a large VSD and severe pulmonary hypertension, the patient may exhibit cyanosis.
Cyanosis is a sign of insufficient oxygenated blood reaching the body’s tissues. In severe cases of VSD with prolonged exposure to elevated pulmonary pressures, patients may develop clubbing of the fingers and toes.
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Atrial septal defect
Atrioventricular septal defect
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Individuals with unrepaired or residual VSDs may require antibiotic prophylaxis before certain medical or dental procedures to reduce the risk of infective endocarditis. However, guidelines for antibiotic prophylaxis have become more selective in recent years.
Surgical Repair:
Large or symptomatic ventricular septal defects: Surgical repair is the primary treatment for larger VSDs that cause symptoms or complications. The surgical procedure typically involves open-heart surgery and entails closing the VSD with a patch or suture material. Surgical repair is usually recommended during early childhood to prevent complications and optimize long-term outcomes.
Complicated VSDs: In cases where the VSD is associated with other complex congenital heart defects, surgical repair may be part of more extensive cardiac surgery, often requiring multiple procedures.
Catheter-Based Interventions:
Percutaneous Closure: In some cases, particularly for specific types of VSDs, transcatheter (catheter-based) interventions may be suitable. This approach is less invasive than open-heart surgery and involves inserting a catheter through a blood vessel and deploying a device (e.g., an occluder or plug) to seal the VSD. This method is often used for muscular or perimembranous VSDs.
A ventricular septal defect (VSD) is a congenital heart defect in which there is an abnormal opening in the septum. This opening allows blood to flow from the left ventricle, which pumps oxygen-rich blood to the body, into the right ventricle, which pumps oxygen-poor blood to the lungs.
As a result, oxygen-rich and oxygen-poor blood mix in the heart, which can lead to a decrease in the amount of oxygen delivered to the body’s tissues. VSDs are usually present at birth and are considered congenital heart defects. The exact cause of VSDs is often unknown, but they can be associated with genetic factors, maternal infections, or exposure to certain medications during pregnancy.
Ventricular septal defects are among the most common congenital heart defects, accounting for a significant portion of congenital heart disease cases. The prevalence can vary depending on geographical regions and populations. In general, the prevalence of VSDs is estimated to be approximately 2-3 cases per 1,000 live births.
The incidence of VSDs refers to the rate at which new cases are diagnosed or born in a specific population over a defined period. The incidence varies among different populations and may be influenced by genetic and environmental factors. VSDs can affect individuals of any gender and age but are typically identified at or shortly after birth.
Some studies have suggested that there may be a slight female predominance in VSD cases, but this gender difference is not always consistent across populations. The prevalence of VSDs can vary by region and ethnicity. Some studies have reported higher prevalence rates in certain populations, while lower rates have been observed in others.
The primary pathophysiological feature of a VSD is the presence of a left-to-right shunt. Oxygen-rich blood from the left ventricle is forced through the defect into the right ventricle. The right ventricle then pumps this oxygenated blood back into the lungs. As a result, there is an excessive volume of blood being sent to the lungs.
The increased blood flow to the lungs causes a volume overload in the pulmonary circulation. This can lead to pulmonary congestion and an increase in pulmonary blood pressure. Over time, chronic pulmonary congestion can result in pulmonary vascular remodeling and, in some cases, pulmonary hypertension.
The excess flow of oxygenated blood into the pulmonary circulation can lead to an increased workload for the right ventricle. This can result in right ventricular hypertrophy as the muscle thickens to handle the higher pressures. In cases of large VSDs, this can ultimately lead to right heart failure.
Although the left ventricle continues to pump blood to the systemic circulation, the left-to-right shunt can result in decreased left ventricular stroke volume, as some of its blood is diverted into the right ventricle. This can result in reduced systemic perfusion and may lead to symptoms of heart failure.
Environmental Factors: Exposure to environmental toxins and teratogens during pregnancy may increase the risk of VSDs. These can include exposure to certain medications, chemicals, or radiation. Pregnant women need to avoid harmful substances to reduce the risk of congenital heart defects.
Multifactorial Causes: In many cases, VSDs likely result from a combination of genetic predisposition and environmental factors. This complex interplay can make it challenging to pinpoint a single cause in each case.
Genetic Factors: There is a genetic component to the development of VSDs. Individuals with a family history of congenital heart defects, including VSDs, are at a higher risk of having a child with a VSD. Some specific genetic syndromes, such as Down syndrome (Trisomy 21), can also increase the likelihood of VSDs. In these cases, specific genetic mutations or chromosomal abnormalities may be involved in the development of the defect.
Ventricular septal defects are typically congenital heart defects. The clinical history may involve prenatal factors, such as maternal infections or exposure to teratogenic substances, family history of congenital heart defects, or genetic syndromes (e.g., Down syndrome) that increase the risk of ventricular septal defect.
The clinical presentation of a VSD can range from asymptomatic to severe, depending on the size of the defect and the associated hemodynamic changes. Common signs and symptoms include:
Asymptomatic: Small ventricular septal defects may not cause noticeable symptoms and can remain undiagnosed for an extended period.
Mild Symptoms: Some individuals with small to moderate VSDs may have mild symptoms, such as a heart murmur, but may otherwise appear healthy.
Severe Symptoms: Large VSDs or those located in critical areas can lead to more severe symptoms, including:
Tachypnea
Difficulty feeding and poor weight gain in infants
Frequent respiratory infections
Symptoms of heart failure, such as fatigue, sweating, and difficulty breathing during physical activity
Small ventricular septal defect may spontaneously close over time, typically within the first few years of life. In such cases, the duration is relatively short, and the defect may no longer be present during follow-up evaluations. Larger or more significant ventricular septal defect may persist if they do not close spontaneously. The duration in these cases can be lifelong if the VSD is not treated. Some individuals with VSDs may experience intermittent symptoms or complications, particularly if they have comorbid conditions, such as pulmonary hypertension.
One of the hallmark physical findings of a VSD is the presence of a heart murmur. The murmur is typically described as a pansystolic (holosystolic) murmur, meaning it occurs throughout the entire systolic phase of the cardiac cycle. The murmur is best heard at the left lower sternal border.
In small VSDs, the murmur may be harsh and loud, while in larger defects, it tends to be softer and less intense. In cases of significant left-to-right shunting of blood, especially in the presence of a large VSD and severe pulmonary hypertension, the patient may exhibit cyanosis.
Cyanosis is a sign of insufficient oxygenated blood reaching the body’s tissues. In severe cases of VSD with prolonged exposure to elevated pulmonary pressures, patients may develop clubbing of the fingers and toes.
Atrial septal defect
Atrioventricular septal defect
Individuals with unrepaired or residual VSDs may require antibiotic prophylaxis before certain medical or dental procedures to reduce the risk of infective endocarditis. However, guidelines for antibiotic prophylaxis have become more selective in recent years.
Surgical Repair:
Large or symptomatic ventricular septal defects: Surgical repair is the primary treatment for larger VSDs that cause symptoms or complications. The surgical procedure typically involves open-heart surgery and entails closing the VSD with a patch or suture material. Surgical repair is usually recommended during early childhood to prevent complications and optimize long-term outcomes.
Complicated VSDs: In cases where the VSD is associated with other complex congenital heart defects, surgical repair may be part of more extensive cardiac surgery, often requiring multiple procedures.
Catheter-Based Interventions:
Percutaneous Closure: In some cases, particularly for specific types of VSDs, transcatheter (catheter-based) interventions may be suitable. This approach is less invasive than open-heart surgery and involves inserting a catheter through a blood vessel and deploying a device (e.g., an occluder or plug) to seal the VSD. This method is often used for muscular or perimembranous VSDs.
medtigo
Ventricular septal defect
Updated :
May 17, 2024
A ventricular septal defect (VSD) is a congenital heart defect in which there is an abnormal opening in the septum. This opening allows blood to flow from the left ventricle, which pumps oxygen-rich blood to the body, into the right ventricle, which pumps oxygen-poor blood to the lungs.
As a result, oxygen-rich and oxygen-poor blood mix in the heart, which can lead to a decrease in the amount of oxygen delivered to the body’s tissues. VSDs are usually present at birth and are considered congenital heart defects. The exact cause of VSDs is often unknown, but they can be associated with genetic factors, maternal infections, or exposure to certain medications during pregnancy.
Ventricular septal defects are among the most common congenital heart defects, accounting for a significant portion of congenital heart disease cases. The prevalence can vary depending on geographical regions and populations. In general, the prevalence of VSDs is estimated to be approximately 2-3 cases per 1,000 live births.
The incidence of VSDs refers to the rate at which new cases are diagnosed or born in a specific population over a defined period. The incidence varies among different populations and may be influenced by genetic and environmental factors. VSDs can affect individuals of any gender and age but are typically identified at or shortly after birth.
Some studies have suggested that there may be a slight female predominance in VSD cases, but this gender difference is not always consistent across populations. The prevalence of VSDs can vary by region and ethnicity. Some studies have reported higher prevalence rates in certain populations, while lower rates have been observed in others.
The primary pathophysiological feature of a VSD is the presence of a left-to-right shunt. Oxygen-rich blood from the left ventricle is forced through the defect into the right ventricle. The right ventricle then pumps this oxygenated blood back into the lungs. As a result, there is an excessive volume of blood being sent to the lungs.
The increased blood flow to the lungs causes a volume overload in the pulmonary circulation. This can lead to pulmonary congestion and an increase in pulmonary blood pressure. Over time, chronic pulmonary congestion can result in pulmonary vascular remodeling and, in some cases, pulmonary hypertension.
The excess flow of oxygenated blood into the pulmonary circulation can lead to an increased workload for the right ventricle. This can result in right ventricular hypertrophy as the muscle thickens to handle the higher pressures. In cases of large VSDs, this can ultimately lead to right heart failure.
Although the left ventricle continues to pump blood to the systemic circulation, the left-to-right shunt can result in decreased left ventricular stroke volume, as some of its blood is diverted into the right ventricle. This can result in reduced systemic perfusion and may lead to symptoms of heart failure.
Environmental Factors: Exposure to environmental toxins and teratogens during pregnancy may increase the risk of VSDs. These can include exposure to certain medications, chemicals, or radiation. Pregnant women need to avoid harmful substances to reduce the risk of congenital heart defects.
Multifactorial Causes: In many cases, VSDs likely result from a combination of genetic predisposition and environmental factors. This complex interplay can make it challenging to pinpoint a single cause in each case.
Genetic Factors: There is a genetic component to the development of VSDs. Individuals with a family history of congenital heart defects, including VSDs, are at a higher risk of having a child with a VSD. Some specific genetic syndromes, such as Down syndrome (Trisomy 21), can also increase the likelihood of VSDs. In these cases, specific genetic mutations or chromosomal abnormalities may be involved in the development of the defect.
Ventricular septal defects are typically congenital heart defects. The clinical history may involve prenatal factors, such as maternal infections or exposure to teratogenic substances, family history of congenital heart defects, or genetic syndromes (e.g., Down syndrome) that increase the risk of ventricular septal defect.
The clinical presentation of a VSD can range from asymptomatic to severe, depending on the size of the defect and the associated hemodynamic changes. Common signs and symptoms include:
Asymptomatic: Small ventricular septal defects may not cause noticeable symptoms and can remain undiagnosed for an extended period.
Mild Symptoms: Some individuals with small to moderate VSDs may have mild symptoms, such as a heart murmur, but may otherwise appear healthy.
Severe Symptoms: Large VSDs or those located in critical areas can lead to more severe symptoms, including:
Tachypnea
Difficulty feeding and poor weight gain in infants
Frequent respiratory infections
Symptoms of heart failure, such as fatigue, sweating, and difficulty breathing during physical activity
Small ventricular septal defect may spontaneously close over time, typically within the first few years of life. In such cases, the duration is relatively short, and the defect may no longer be present during follow-up evaluations. Larger or more significant ventricular septal defect may persist if they do not close spontaneously. The duration in these cases can be lifelong if the VSD is not treated. Some individuals with VSDs may experience intermittent symptoms or complications, particularly if they have comorbid conditions, such as pulmonary hypertension.
One of the hallmark physical findings of a VSD is the presence of a heart murmur. The murmur is typically described as a pansystolic (holosystolic) murmur, meaning it occurs throughout the entire systolic phase of the cardiac cycle. The murmur is best heard at the left lower sternal border.
In small VSDs, the murmur may be harsh and loud, while in larger defects, it tends to be softer and less intense. In cases of significant left-to-right shunting of blood, especially in the presence of a large VSD and severe pulmonary hypertension, the patient may exhibit cyanosis.
Cyanosis is a sign of insufficient oxygenated blood reaching the body’s tissues. In severe cases of VSD with prolonged exposure to elevated pulmonary pressures, patients may develop clubbing of the fingers and toes.
Atrial septal defect
Atrioventricular septal defect
Individuals with unrepaired or residual VSDs may require antibiotic prophylaxis before certain medical or dental procedures to reduce the risk of infective endocarditis. However, guidelines for antibiotic prophylaxis have become more selective in recent years.
Surgical Repair:
Large or symptomatic ventricular septal defects: Surgical repair is the primary treatment for larger VSDs that cause symptoms or complications. The surgical procedure typically involves open-heart surgery and entails closing the VSD with a patch or suture material. Surgical repair is usually recommended during early childhood to prevent complications and optimize long-term outcomes.
Complicated VSDs: In cases where the VSD is associated with other complex congenital heart defects, surgical repair may be part of more extensive cardiac surgery, often requiring multiple procedures.
Catheter-Based Interventions:
Percutaneous Closure: In some cases, particularly for specific types of VSDs, transcatheter (catheter-based) interventions may be suitable. This approach is less invasive than open-heart surgery and involves inserting a catheter through a blood vessel and deploying a device (e.g., an occluder or plug) to seal the VSD. This method is often used for muscular or perimembranous VSDs.
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