Ventricular Septal Defect

What is Ventricular Septal Defect?

Ventricular septal defects (VSDs) are the most common heart defect in children at birth and the second most common in adults, after a condition called a bicuspid aortic valve. This defect involves a hole in the wall that separates the two lower chambers of the heart, known as the right and left ventricles. This can cause blood to unnecessarily flow from one ventricle to the other, which is referred to as forming a shunt, and can affect how the heart functions.

While many VSDs naturally close on their own, larger and persistent ones can lead to serious complications. These can include high blood pressure in the lungs (pulmonary arterial hypertension or PAH), heart muscle weakness (ventricular dysfunction), and a higher risk of irregular heart rhythms (arrhythmias). The existence of VSDs was first recognized by a researcher named Dalrymple in 1847.

What Causes Ventricular Septal Defect?

A Ventricular Septal Defect (VSD) is a type of heart issue that happens when there’s a problem with the development of the wall (known as the interventricular septum) between the heart’s lower chambers during the formation of the heart in the embryo. While VSDs can occur on their own, they can also be seen in combination with other congenital (from birth) heart inefficiencies, such as holes in the upper chamber of the heart (atrial septal defects), a persistently open blood vessel which is normally closed after birth (patent ductus arteriosus), and narrowed artery leading from the heart to the lungs (pulmonic stenosis). VSDs are also found in more complex heart conditions, including narrowed aorta (aortic coarctation and subaortic stenosis), a condition with four heart defects known as tetralogy of Fallot, and a condition where the two main arteries of the heart are swapped (transposition of the great arteries).

Various genetic factors, such as changes in chromosomes, mutations in single genes, and inherited factors from multiple genes play a role in VSDs. For example, a recent mutation found in the TBX5 gene has been linked to septal defects (issues with the walls within the heart) in people with Holt-Oram syndrome, which is a genetic disorder causing heart and arm defects. Non-genetic risks also contribute to the development of VSDs such as maternal infections, including German measles, seasonal flu, and fevers, as well as maternal diabetes mellitus, a metabolic disorder affecting the body’s ability to process sugar, and phenylketonuria, a genetic disorder preventing the normal breakdown of a protein called phenylalanine. Moreover, substances like alcohol, marijuana, cocaine and certain medications like metronidazole and ibuprofen have also been linked to VSDs.

Risk Factors and Frequency for Ventricular Septal Defect

Isolated VSD, a type of heart malformation, is found in 37% of children with congenital heart diseases. It plays a significant role in newborns, with a rate of about 0.3%. Interestingly, as people grow older, the prevalence decreases because in about 90% of incidents, the VSDs close on their own without medical intervention. Both males and females are equally likely to have VSDs.

Signs and Symptoms of Ventricular Septal Defect

Unrepaired Ventricular Septal Defects (VSDs), or holes in the wall separating the heart’s lower chambers, present differently based on the size of the defect and the presence of significant blood flow rerouting. The size of the defect influences its impact on the heart’s workload and resulting symptoms:

Small VSDs: Small defects cause minimal rerouting of blood from the left to the right chamber of the heart, without causing an overload of fluid in the left chamber or Pulmonary Arterial Hypertension (PAH – high blood pressure in the arteries supplying the lungs). Hence, people with small VSDs often have no symptoms or the VSD is found unexpectedly during routine physical examinations.
Medium-size VSDs: Medium-sized defects can result in a moderate increase in workload for the left ventricle and may cause PAH to a little or no degree. Usually, symptoms, like mild congestive heart failure (a condition where the heart cannot pump enough blood to meet the body’s needs), occur later in childhood.
Large VSDs: In the case of large defects, congestive heart failure develops early in childhood because of severe fluid overload on the left ventricular chamber and high PAH.

The VSD-related abnormal heart sound, or murmur, is usually loud and harsh for small defects and softer and less intense for larger defects. It tends to be heard best near the bottom of the left side of the breastbone. Certain actions, like gripping hands, can make the murmur stronger. If the VSD is near the pulmonic part of the heart, the murmur is best heard there. Also, some specific abnormalities like aortic regurgitation and septal aneurysm can lead to distinct heart sounds, such as a soft falling murmur and a clicking sound, respectively.

In cases of Eisenmenger syndrome, a severe form of untreated large defect VSD, it can cause symptoms like blue-tinged skin, reduced oxygen, discomfort during breathing, fainting, increased blood cells, and finger’s tip enlargement. The typical VSD murmur might go away in such cases, and a loud sound from the pulmonary artery can be heard.

Testing for Ventricular Septal Defect

The main way doctors diagnose Ventricular Septal Defects (VSDs), or holes in the wall between the heart’s lower chambers, is through a test called Color Doppler Transthoracic Echocardiography (TTE). This type of heart ultrasound can detect up to 95% of VSDs, particularly for larger defects that are not near the heart’s apex (or tip).

TTE can provide key information like the size, location, and number of defects in the heart. It can also measure things like the size of the blood flow jet (caused by the defect), the severity of the condition, and gives an estimate of the pressure in the lungs artery. This test can also spot related problems like inefficient aortic heart valves and other birth defects in the heart, as well as showing the size and function of the right and left ventricular chambers (lower parts) of the heart.

However, TTE has its challenges. The quality of the results really depend on who is performing the test, and sometimes it’s hard to get a clear view of the heart. If the results from a TTE aren’t clear enough, a different type of echo test called a transesophageal echo (TEE) is recommended for further examination.

An electrocardiogram (ECG), a test that monitors the heart’s electrical activity, might appear completely normal for some people with VSDs. If it is abnormal, it might show an enlarged left heart chamber in those with large defects. For those with Pulmonary Arterial Hypertension (PAH), a condition that affects the arteries in the lungs and right side of the heart, the ECG might show specific disturbances in the heart’s electrical rhythm and an enlarged right heart chamber.

Chest x-ray results often look normal for people with small VSDs. However, larger defects might show an enlarged heart and an increase in the size of the left heart chamber. For those with PAH, chest x-rays may show a larger right heart chamber and an increased diameter of the artery leading to the lungs.

Heart MRIs or CT scans can be helpful when things are complex, like when the VSD is accompanied by other birth defects in the heart or when defects are in unusual locations that are hard to see with a regular TTE.

Finally, a test called cardiac catheterization is a key tool for diagnosing VSDs. It can give exact information about things like the resistance in the vascular lung system and how the blood vessels respond to medications that widen them. This information is important for those being considered for surgery to correct VSDs. Additionally, this test offers more details about other related conditions, such as aortic valve inefficiency, and is useful for cases involving multiple VSDs or when blockages in the coronary arteries are suspected.

Treatment Options for Ventricular Septal Defect

Many small holes in the heart (Ventricular Septal Defects – VSDs) tend to naturally close up by themselves during the first year of a baby’s life. Patients with small VSDs, who don’t show any symptoms and don’t have a condition called Pulmonary Arterial Hypertension (PAH), often have a great health outlook without needing any intervention.

However, if there’s a need to intervene, treatment methods usually involve closing up the VSD. For a condition called Eisenmenger syndrome, which is quite complex, the treatment takes place in advanced healthcare centers. In the past, surgery was the only treatment option for this condition. Nowadays, advancements in medical procedures have made non-surgical closure of the VSD possible.

It’s important to note that it’s no longer common practice to routinely give antibiotics to prevent heart infection (endocarditis) in patients with unrepaired VSDs. Antibiotic prevention is mainly advisable for patients with blue baby syndrome, those who have had endocarditis before, and those who have artificial heart valves or have undergone treatment involving artificial material.

Usually, closing a VSD is recommended for medium to large defects that significantly affect blood flow in the heart, especially in people who show symptoms like a weakening of the left side of the heart. Intervention might also be considered for an increasingly weak heart valve or after a bout of endocarditis. The American College of Cardiology and American Heart Association recommend surgical closure of VSDs for cases involving a history of endocarditis, increased blood flow from the lungs to the body (known as Qp/Qs ratio) causing fluid overload in the left side of the heart.

Intervention is considered for less severe cases if there’s evidence of weakening of the heart’s ability to contract or relax. Additionally, surgical closure is a reasonable decision when the pressure in the pulmonary artery is lower compared to the blood pressure of the body.

Surgical repair of VSDs has several benefits. It reduces the risk of getting heart infection, improves the condition of PAH, and generally betters the patient’s chance of survival. However, surgical intervention is not risk-free.

Complications might occur after a VSD surgical repair. These could include recurrence of the VSD, inadequate functioning of heart valves, heart rhythm issues such as atrial fibrillation, complete heart block, and rapid heart rate (ventricular tachycardia), weakening of the left side of the heart, and worsening of PAH.

It’s primarily contraindicated to carry out surgical VSD closure if the patient has irreversible PAH due to the likelihood of surgical complications. The closure of the VSD via a small tube inserted through the skin (percutaneous device VSD closure) is an option for people who are at high risk of complications from surgery. This method is particularly suited for muscular VSDs, but its application in cases involving defects near the heart’s inflow valves can be a challenge.

Even though percutaneous VSD closure isn’t prevalent in the US, current data indicates great outcomes with a high success rate of closure and low mortality rates. The most common complication associated with this procedure is complete atrioventricular block, especially in perimembranous defects.

The closure of Gerbode defects, which are specific types of VSD, is generally recommended to prevent the worsening of a condition where the tricuspid valve leaks blood back into the heart, and to prevent endocarditis. While it’s not common for Gerbode defects to close up by themselves, there are effective treatments.

Surgery is the most common treatment for Gerbode defects and generally achieves good outcomes. Also, closure via a small tube inserted through the skin (transcatheter device closure) is another viable treatment. Some challenges in this procedure include making sure the device is properly aligned, potential conduction disturbances, and the possibility of worsening tricuspid regurgitation.

In conclusion, VSD is the most common birth defect. While small defects often close up on their own in the first year, larger defects can result in severe health issues. Surgical and device closure of VSD are the main treatments recommended for large defects.

Although Ventricular Septal Defect (VSD) is a specific heart condition, other heart and non-heart conditions can have similar symptoms. These conditions that might be confused with VSD include:

Atrioventricular septal defect
Atrial septal defect
Patent ductus arteriosus
Pulmonary stenosis
Tetralogy of Fallot
Mitral valve prolapse
Tricuspid regurgitation
Eisenmenger syndrome
Infective endocarditis
Myocarditis

What to expect with Ventricular Septal Defect

Generally, patients who have had a procedure to repair a Ventricular Septal Defect (VSD) – a hole in the heart’s wall – usually have a positive outlook. However, over the long term, these patients have a higher chance of developing irregular heart rhythms (arrhythmia), heart infection (endocarditis), and heart failure (CHF) as compared to the average person.

Possible Complications When Diagnosed with Ventricular Septal Defect

Complications from having a VSD (ventricular septal defect) might include:

Eisenmenger syndrome – a serious condition often caused by uncorrected heart defects
Aortic insufficiency – this happens when the aortic valve doesn’t close tightly leading to leakage
Endocarditis – an infection of the inner lining of your heart’s chambers or valves
Embolization – the process of blocking blood flow
CHF (Congestive heart failure) – a chronic condition in which the heart doesn’t pump blood as well as it should
Pulmonary hypertension – high blood pressure that affects the arteries in your lungs and the right side of your heart
Arrhythmias – irregular heartbeats

Preventing Ventricular Septal Defect

If your child has a small Ventricular Septal Defect (VSD), this means they have a small hole in the wall separating the right and left ventricles of their heart. The good news is that often this does not require medical or surgical treatment, as these small holes frequently close on their own over time. In the past, doctors would recommend antibiotics to prevent a heart infection called endocarditis, but this is not typically necessary anymore. However, maintaining good oral hygiene is still very important as it helps reduce the risk of endocarditis.

Even if no medical intervention is required, it’s critical for all patients with VSDs to follow their doctor’s instructions, take any prescribed medications, and have regular check-ups with their specialists. This helps ensure that any changes in their condition are detected and managed promptly and properly.

Frequently asked questions

Patients who have had a procedure to repair a Ventricular Septal Defect (VSD) usually have a positive outlook. However, over the long term, these patients have a higher chance of developing irregular heart rhythms (arrhythmia), heart infection (endocarditis), and heart failure (CHF) compared to the average person.

Various genetic factors, such as changes in chromosomes, mutations in single genes, and inherited factors from multiple genes, as well as non-genetic risks such as maternal infections, substances like alcohol and certain medications, can contribute to the development of Ventricular Septal Defect (VSD).

Signs and symptoms of Ventricular Septal Defect (VSD) can vary depending on the size of the defect and the presence of significant blood flow rerouting. Here are the signs and symptoms associated with different sizes of VSDs: - Small VSDs: Small defects usually cause minimal rerouting of blood and may not cause any symptoms. In some cases, small VSDs are found unexpectedly during routine physical examinations. - Medium-size VSDs: Medium-sized defects can result in a moderate increase in workload for the left ventricle. Symptoms, such as mild congestive heart failure, may occur later in childhood. - Large VSDs: Large defects can lead to congestive heart failure early in childhood due to severe fluid overload on the left ventricular chamber and high pulmonary arterial hypertension (PAH). In addition to these general symptoms, there are specific signs related to the abnormal heart sound, or murmur, associated with VSDs. The murmur is usually loud and harsh for small defects and softer and less intense for larger defects. It is typically heard best near the bottom of the left side of the breastbone. Certain actions, like gripping hands, can make the murmur stronger. If the VSD is near the pulmonic part of the heart, the murmur is best heard there. Other specific abnormalities, such as aortic regurgitation and septal aneurysm, can also lead to distinct heart sounds, such as a soft falling murmur and a clicking sound, respectively. In cases of Eisenmenger syndrome, a severe form of untreated large VSD, additional symptoms may include blue-tinged skin, reduced oxygen levels, discomfort during breathing, fainting, increased blood cells, and enlargement of the fingertips. The typical VSD murmur might go away in such cases, and a loud sound from the pulmonary artery can be heard.

The types of tests that are needed for Ventricular Septal Defect (VSD) include: 1. Color Doppler Transthoracic Echocardiography (TTE): This heart ultrasound test is the main way to diagnose VSDs. It can detect up to 95% of VSDs and provides information about the size, location, and number of defects in the heart. 2. Transesophageal echo (TEE): If the results from TTE are not clear enough, a TEE may be recommended for further examination. This type of echo test provides a clearer view of the heart. 3. Electrocardiogram (ECG): This test monitors the heart's electrical activity and can show abnormalities such as an enlarged left heart chamber or specific disturbances in the heart's electrical rhythm. 4. Chest x-ray: While small VSDs may not show abnormalities on a chest x-ray, larger defects can show an enlarged heart and increased chamber size. 5. Heart MRI or CT scan: These imaging tests can be helpful in complex cases, such as when VSDs are accompanied by other birth defects or when defects are in unusual locations that are hard to see with a regular TTE. 6. Cardiac catheterization: This test provides detailed information about the resistance in the vascular lung system and how blood vessels respond to medications. It is important for those being considered for surgery to correct VSDs and can also provide information about related conditions. It is important to note that the specific tests ordered may vary depending on the individual case and the doctor's clinical judgment.

A doctor needs to rule out the following conditions when diagnosing Ventricular Septal Defect: - Atrioventricular septal defect - Atrial septal defect - Patent ductus arteriosus - Pulmonary stenosis - Tetralogy of Fallot - Mitral valve prolapse - Tricuspid regurgitation - Eisenmenger syndrome - Infective endocarditis - Myocarditis

The side effects when treating Ventricular Septal Defect (VSD) can include: - Eisenmenger syndrome, a serious condition often caused by uncorrected heart defects. - Aortic insufficiency, which occurs when the aortic valve doesn't close tightly, leading to leakage. - Endocarditis, an infection of the inner lining of the heart's chambers or valves. - Embolization, the process of blocking blood flow. - Congestive heart failure (CHF), a chronic condition in which the heart doesn't pump blood as well as it should. - Pulmonary hypertension, high blood pressure that affects the arteries in the lungs and the right side of the heart. - Arrhythmias, irregular heartbeats.

A cardiologist.

Ventricular Septal Defect is found in 37% of children with congenital heart diseases and has a rate of about 0.3% in newborns.

Ventricular Septal Defect (VSD) can be treated through surgical closure or non-surgical closure using a percutaneous device. Surgical closure is recommended for medium to large defects that significantly affect blood flow in the heart, especially in patients who show symptoms or have a history of endocarditis. Non-surgical closure is an option for patients who are at high risk of complications from surgery, particularly for muscular VSDs. The closure of Gerbode defects, which are specific types of VSD, is generally recommended to prevent worsening conditions and can be treated through surgery or transcatheter device closure.

Ventricular Septal Defect (VSD) is a heart defect characterized by a hole in the wall that separates the two lower chambers of the heart, known as the right and left ventricles. This can cause blood to flow unnecessarily from one ventricle to the other, affecting how the heart functions.

Arrhythmia Echocardiogram Heart Health Pulmonary artery Hypertension