Pulmonary Atresia With Ventricular Septal Defect

What is Pulmonary Atresia With Ventricular Septal Defect?

Pulmonary atresia with a ventricular septal defect (PAVSD) is a type of heart disease present at birth that can cause a blue or purple tinge to the skin (cyanosis). It happens when parts of the right side of the heart don’t develop correctly, causing issues with the valve and muscly wall (pulmonary valve and trunk) that lead to the lungs, and creating a large hole in the muscular wall (ventricular septal defect) separating the heart’s lower chambers. Also, the aorta (the heart’s main artery) is often misplaced.

Earlier, this condition was referred to as truncus arteriosus type IV. Some medical experts still debate whether PAVSD is a severe form of another congenital heart disease known as tetralogy of Fallot (TOF), but what’s clear is that PAVSD can and does happen. The symptoms and severity of this heart condition can vary greatly, mostly depending on the development of the pulmonary valve and other blood vessels that may develop to make up for the poorly formed valve.

Some patients with PAVSD are heavily reliant on a particular blood vessel (the arterial duct) for blood to flow to their lungs. These patients can turn blue (become cyanotic) when this blood vessel naturally closes after birth. If these patients are not diagnosed before birth, they may need a specific medicine called prostaglandin. Meanwhile, patients with enough extra blood vessels (major aortopulmonary collateral arteries or MAPCAs) can usually breathe comfortably at birth because these extra vessels ensure that blood reaches the lungs.

Some experts prefer to refer to PAVSD as TOF with pulmonary atresia and MAPCAs. This is because the term ‘pulmonary atresia with VSD’ can be linked to a range of different heart problems present at birth. However, typically only the lungs of patients with “classic” TOF complicated by pulmonary atresia receive blood exclusively through in-built connections between the body’s main arteries. Fortunately, TOF often shares several traits with PAVSD, which can help in managing the conditions similarly, making the treatment approach clearer. For our purpose, we consider PAVSD to be different from classical TOF.

What Causes Pulmonary Atresia With Ventricular Septal Defect?

The causes of PAVSD, or a specific type of heart defect, aren’t entirely understood yet, but there’s a strong link to certain genetic conditions. For instance, research has found that almost half the children with DiGeorge syndrome, a genetic disorder resulting from a small missing piece of chromosome 22, also have PAVSD. DiGeorge syndrome is characterized by the missing or underdeveloped thymus gland, which is often noticed during corrective surgery.

Two other genetic syndromes, VATER (or VACTERL association) and Alagille syndrome, are also commonly associated with PAVSD. Notably, when Alagille syndrome occurs alongside PAVSD, the prognosis tends to be quite serious.

There are several risk factors correlated with PAVSD:

* Having a parent with a congenital heart disease.
* Use of certain harmful drugs by the mother during pregnancy.
* Smoking during or before pregnancy.
* Poorly managed diabetes.
* Becoming pregnant at an older age.

However, these risk factors are not exclusive to PAVSD — they’re often linked with other congenital defects as well.

Risk Factors and Frequency for Pulmonary Atresia With Ventricular Septal Defect

Congenital heart diseases are becoming less common each year. This is largely due to efforts in educating and advising patients to steer clear of known risk factors. The number of pulmonary atresia cases, a type of congenital heart disease, is also dropping.

Between 1999 and 2000, pulmonary atresia accounted for 12.1% of all congenital heart diseases.
This percentage decreased to 9.6% by 2008.

Signs and Symptoms of Pulmonary Atresia With Ventricular Septal Defect

Pulmonary atresia with ventricular septal defect (PAVSD) can be detected in unborn babies at around 18 to 22 weeks of pregnancy through an ultrasound. However, if a mother doesn’t get prenatal care or lacks access to proper healthcare services, PAVSD might not be discovered until the baby’s birth during a physical exam. The symptoms of PAVSD can vary significantly, depending on the severity of the pulmonary atresia and the presence of major aortopulmonary collateral arteries (MAPCAs).

Most newborns with PAVSD show signs of blue skin color and a heart murmur. Here are some of the common symptoms:

Blue coloration of the face, especially around the mouth and lips due to poor oxygen supply to the body’s tissues. In severe cases, this can also be seen in the arms and legs.
An increased breathing rate or difficulty breathing because of poor blood oxygen level. Sometimes, this isn’t noticeable when the baby is resting but becomes evident during crying or breastfeeding.
The baby may tire easily, demonstrated by a weak cry or having difficulty breastfeeding due to weakness and lack of energy.
Failure to grow or gain weight as expected.

During a physical examination, the doctor might notice the following signs:

Central cyanosis or bluish coloration of the skin
A heart murmur that can be heard at the left side of the chest and may spread to the back or the armpit area.
A single loud second heart sound.
A continuous, machine-like heart murmur that is best heard at the upper chest area or the area between the shoulder blades on the back.
Weak grasp, below-average weight, and lethargy or lack of energy.

Swelling in the extremities, clubbed fingers, and worsening blue coloration of the skin may be signs of heart failure, especially if they develop later in life. A few newborns and infants can develop heart failure early in life if they have large MAPCAs leading to excessive blood flow to the lungs. These babies sometimes need mechanical assistance to breathe and should have their heart defect repaired as soon as possible. Thankfully, the outcomes are generally favorable as they often have well-developed lung blood vessels.

Testing for Pulmonary Atresia With Ventricular Septal Defect

When a doctor needs to completely assess a patient for pulmonary atresia with ventricular septal defect (PAVSD), they typically use several different kinds of tests and procedures. Here’s what some of them do:

* Echocardiography: This is usually the go-to test when checking for PAVSD. It can give doctors valuable information on the condition of the pulmonary valve, whether the aorta is overriding, ventricular septal defect (VSD), atrial septal defects (ASD), major aortopulmonary collateral arteries (MAPCA) if they exist, as well as how well the heart is pumping blood (ejection fraction).

Angiography: This is an important procedure that uses certain techniques such as cardiac catheterization to view the heart’s arteries. They show the doctors the shape, size, and spread of these arteries. In addition, it helps in measuring the right ventricle pressure and pressure gradient across the pulmonary valve. MAPCA may be confirmed through catheterization as well as contrast injections into collateral vessels, as it showcases the pulmonary blood supply to lung segments more accurately. Normally, central pulmonary arteries can be seen if there is a working arterial duct or connection to collateral vessels. Lately, however, computed tomography angiography has been replacing angiography.

Further, a check on oxygen saturation is done through pulse oximetry, particularly in dark-skinned infants, who may not show their lack of adequate oxygen during a physical exam due to cyanosis. Conducting a hyperoxia test at birth can single out babies with cyanotic heart diseases, which helps manage the condition early on.

They may also measure arterial blood gases, check the baseline hemoglobin level, and do a cell count. Genetic testing is typically done only if the patient has other congenital defects.

Taking a chest X-ray can show various signs too, such as a missing pulmonary artery shadow, a boot-shaped heart, and either an enlarged heart or inadequate lung blood vessel markings. Finally, Magnetic Resonance Angiography (MRA) or computed tomography angiography can be crucial to clearly picture the vascular anatomy before surgery. It can reveal other MAPCAs that were hard to spot on echocardiography.

Treatment Options for Pulmonary Atresia With Ventricular Septal Defect

Addressing low oxygen levels is a key medical treatment for newborns experiencing heart disorders, as is monitoring and adjusting any fluid imbalance or acidity in the body. If feeding is a problem, nutritional rehabilitation might be required. In very severe cases, a drug called prostaglandin E1 might be used to keep a vessel named the ductus arteriosus open to supply blood to the lungs until corrective surgery can take place. If the heart disorder starts to make it hard for the body to manage the volumes of blood needed in different places, diuretics or digoxin may be used to help.

While these treatments can support the newborn’s health, ultimately surgical treatment is usually necessary. The approach to surgery depends on the specific nature of the heart disorder and the individual patient’s conditions. Sometimes, doctors will handle initial treatment and then discharge the patient from the hospital to return for surgery in 3 to 6 months, as their organs develop further.

The surgical procedure will be based on the size of the blood vessels leading to the lungs, the presence of vessel abnormalities, and the state of the ductus arteriosus. Surgery could involve procedures like attaching small vessels (MAPCAs) to improve blood flow, patching certain parts of the heart, or inserting a shunt (a tube to redirect blood flow).

Possible steps of corrective surgery include establishing blood flow in the vessels leading to the lungs by connecting them directly to the large blood vessel leaving the heart; connecting the heart’s pumping chamber (the right ventricle) to the large blood vessel temporarily; connecting the blood vessel responsible for carrying deoxygenated blood from the heart to the lungs as the vessels grow in size and connecting the right ventricle back to the large artery leading to the lungs; closing the problematic vessels at around 6 months of age; and finally, repairing the hole in the heart (known as VSD) at around 1 to 3 years of age. These steps help ensure the procedure is manageable for even weak newborns.

The use of aspirin is suggested before and after surgery to decrease the chances of blood clots forming in the vessels or any surgical shunts. Regular medical check-ins after surgery also contribute to better outcomes. In cases where the lung blood vessels are completely closed off, or where corrective measures have not worked, a heart transplant may be considered.

When trying to diagnose Partial Anomalous Venous Sinus Drainage (PAVSD), there are several other medical conditions that doctors must consider. These include:

Severe Tetralogy of Fallot
Transposition of the great arteries with pulmonary stenosis
A single ventricle with severe pulmonary stenosis
Tricuspid atresia
Pulmonary atresia with intact interventricular septum
Double-outlet right ventricle with pulmonary atresia
Double-inlet left ventricle with pulmonary atresia
Congenitally corrected transposition of the great arteries (L-TGA) with ventricular septal defect and pulmonary atresia

Doctors need to carefully differentiate PAVSD from these conditions to accurately diagnose and treat the patient.

What to expect with Pulmonary Atresia With Ventricular Septal Defect

Without proper surgical intervention, around half of patients do not survive past their first 2 years of life, and only around 10% live up to or beyond 20 years. However, with appropriate treatment and regular follow-up care, the outlook improves significantly. About 65% of patients who are alive one year after treatment can live past the age of 10.

An institution that frequently carries out these procedures estimates the risk of death related to the surgery to be between 1.5% and 8%, depending on the specific operation performed.

Possible Complications When Diagnosed with Pulmonary Atresia With Ventricular Septal Defect

In addition to the complications related to surgery and anesthesia, there are other complications associated with PAVSD. These include:

Congestive heart failure (CHF) – when your heart can’t pump enough blood to meet your body’s needs
Reactive erythrocytosis – where your body makes too many red blood cells in response to prolonged lack of sufficient oxygen
Infective endocarditis – an infection caused by irregular blood flow
Sepsis – a life-threatening condition that arises when your body’s response to an infection injures its tissues and organs. This can be due to infective endocarditis or a poorly developed immune system
Delayed growth and puberty – where a child’s body develops slower than normal
Arrhythmias – irregular heartbeats
Sudden death

Preventing Pulmonary Atresia With Ventricular Septal Defect

It’s crucial that parents of children with congenital heart diseases (birth defects that affect the structure of the heart) understand their child’s condition. This is because these heart issues are generally serious and often require several surgeries to fix the abnormal parts. It’s also important for parents to learn how to perform cardiopulmonary resuscitation (CPR), a life-saving technique used in emergencies when a person’s heart or breathing has stopped.

Additionally, parents might find it helpful to undertake genetic counseling. This is a service that provides information and advice to families who have, or may be at risk for, genetic disorders. Through genetic counseling, they can plan future pregnancies with a complete understanding of the risks. If the heart defect is detected in the early stages of a future pregnancy, the option of ending the pregnancy could be presented for discussion.

Frequently asked questions

The prognosis for Pulmonary Atresia With Ventricular Septal Defect (PAVSD) varies depending on the specific case and treatment received. Without surgical intervention, around half of patients do not survive past their first 2 years of life, and only around 10% live up to or beyond 20 years. However, with appropriate treatment and regular follow-up care, the outlook improves significantly. About 65% of patients who are alive one year after treatment can live past the age of 10. The risk of death related to the surgery is estimated to be between 1.5% and 8%, depending on the specific operation performed.

Pulmonary Atresia With Ventricular Septral Defect (PAVSD) can be caused by certain genetic conditions such as DiGeorge syndrome, VATER (or VACTERL association), and Alagille syndrome. There are also several risk factors associated with PAVSD, including having a parent with a congenital heart disease, use of certain harmful drugs by the mother during pregnancy, smoking during or before pregnancy, poorly managed diabetes, and becoming pregnant at an older age.

The signs and symptoms of Pulmonary Atresia with Ventricular Septal Defect (PAVSD) can vary depending on the severity of the condition and the presence of major aortopulmonary collateral arteries (MAPCAs). However, some common signs and symptoms include: - Blue coloration of the face, especially around the mouth and lips, due to poor oxygen supply to the body's tissues. In severe cases, this can also be seen in the arms and legs. - Increased breathing rate or difficulty breathing, particularly during crying or breastfeeding, due to poor blood oxygen levels. - Easy fatigue, demonstrated by a weak cry or difficulty breastfeeding, caused by weakness and lack of energy. - Failure to grow or gain weight as expected. - Central cyanosis or bluish coloration of the skin. - A heart murmur that can be heard at the left side of the chest and may spread to the back or armpit area. - A single loud second heart sound. - A continuous, machine-like heart murmur that is best heard at the upper chest area or the area between the shoulder blades on the back. - Weak grasp, below-average weight, and lethargy or lack of energy. - Swelling in the extremities, clubbed fingers, and worsening blue coloration of the skin, which may be signs of heart failure, especially if they develop later in life. It is important to note that some newborns and infants with PAVSD may develop heart failure early in life if they have large MAPCAs leading to excessive blood flow to the lungs. These babies may require mechanical assistance to breathe and should have their heart defect repaired as soon as possible. However, the outcomes for PAVSD patients are generally favorable, as they often have well-developed lung blood vessels.

The types of tests that a doctor would order to properly diagnose Pulmonary Atresia with Ventricular Septal Defect (PAVSD) include: - Echocardiography: This test provides valuable information on the condition of the pulmonary valve, ventricular septal defect (VSD), atrial septal defects (ASD), and major aortopulmonary collateral arteries (MAPCA) if they exist. It also assesses how well the heart is pumping blood. - Angiography: This procedure uses techniques such as cardiac catheterization to view the heart's arteries and measure right ventricle pressure and pressure gradient across the pulmonary valve. It can also confirm the presence of MAPCA and showcase the pulmonary blood supply to lung segments. - Pulse oximetry: This test checks oxygen saturation, particularly in dark-skinned infants who may not show cyanosis during a physical exam. It helps identify babies with cyanotic heart diseases. - Arterial blood gases, baseline hemoglobin level, and cell count: These tests provide additional information about the patient's condition. - Chest X-ray: This can show signs such as a missing pulmonary artery shadow, a boot-shaped heart, and either an enlarged heart or inadequate lung blood vessel markings. - Magnetic Resonance Angiography (MRA) or computed tomography angiography: These imaging techniques can provide a clear picture of the vascular anatomy before surgery and help identify any additional MAPCAs that were difficult to spot on echocardiography.

The other conditions that a doctor needs to rule out when diagnosing Pulmonary Atresia With Ventricular Septal Defect are: - Severe Tetralogy of Fallot - Transposition of the great arteries with pulmonary stenosis - A single ventricle with severe pulmonary stenosis - Tricuspid atresia - Pulmonary atresia with intact interventricular septum - Double-outlet right ventricle with pulmonary atresia - Double-inlet left ventricle with pulmonary atresia - Congenitally corrected transposition of the great arteries (L-TGA) with ventricular septal defect and pulmonary atresia

The side effects when treating Pulmonary Atresia With Ventricular Septal Defect include: - Congestive heart failure (CHF) - Reactive erythrocytosis - Infective endocarditis - Sepsis - Delayed growth and puberty - Arrhythmias - Sudden death

A pediatric cardiologist.

The treatment for Pulmonary Atresia with Ventricular Septal Defect (VSD) involves a combination of medical and surgical interventions. Initially, addressing low oxygen levels and monitoring fluid imbalance or acidity in the body is important. Nutritional rehabilitation may be required if feeding is a problem. In severe cases, a drug called prostaglandin E1 may be used to keep a vessel called the ductus arteriosus open until corrective surgery can be performed. Diuretics or digoxin may be used to help manage blood volumes if the heart disorder makes it difficult for the body. Ultimately, surgical treatment is usually necessary, and the specific approach depends on the nature of the heart disorder and the patient's conditions. Surgical procedures may involve improving blood flow, patching certain parts of the heart, or redirecting blood flow with a shunt. Aspirin may be used before and after surgery to decrease the chances of blood clots, and regular medical check-ins after surgery are important for better outcomes. In cases where other measures have not worked, a heart transplant may be considered.

Pulmonary Atresia with Ventricular Septal Defect (PAVSD) is a type of heart disease present at birth that is characterized by a blue or purple tinge to the skin (cyanosis). It occurs when parts of the right side of the heart do not develop correctly, leading to issues with the pulmonary valve and trunk, as well as a large hole in the muscular wall separating the heart's lower chambers. Additionally, the aorta is often misplaced in this condition.

Congenital Heart Defects Heart Health Ventricular Septal Defect