Atrioventricular canal–type ventricular septal defect is a special kind of hole in the wall between the two lower chambers of the heart (the ventricles) that sits just under the heart valves in the middle of the heart. In this defect, the “inlet” part of the ventricular septum is missing or not formed properly, and the area where the top chambers and bottom chambers meet is also abnormal. This problem belongs to a bigger group of heart problems called atrioventricular septal defects or atrioventricular canal defects, where there is a hole in the center of the heart and the valves between the upper and lower chambers are not fully separated. Blood can then flow in the wrong direction and mix, so too much blood goes to the lungs and the heart has to work much harder.
Atrioventricular canal–type ventricular septal defect (often grouped under atrioventricular septal defects, AVSD) is a birth defect of the heart where there is a large hole in the center of the heart and the walls between the upper chambers (atria) and lower chambers (ventricles) do not form properly. The valve between the top and bottom chambers is also abnormal and may leak. This causes blood to flow in the wrong direction, making the heart work much harder and leading to heart failure symptoms in many babies.
In the “canal-type VSD” form, the main opening is in the lower (ventricular) part of the central heart, next to the inlet of the ventricles. Blood flows from the stronger left ventricle into the right side and lungs. Over time, this extra flow can damage the blood vessels in the lungs and cause high lung pressure (pulmonary hypertension) if not corrected. This defect is strongly associated with Down syndrome, and most children eventually need surgery to repair the hole and the valve.
In atrioventricular canal–type ventricular septal defect, the hole is usually connected to a defect in the wall between the upper chambers (an atrial septal defect) and an abnormal common valve or leaking valves, so doctors often talk about it as part of “complete atrioventricular septal defect.” This is a problem present at birth (congenital), and it does not close by itself, so children usually need surgery in early life to repair the hole and rebuild the valves.
Other names
Doctors use several other names that refer to the same family of problems as atrioventricular canal–type ventricular septal defect. One common name is atrioventricular septal defect (AVSD), which means there is a defect in the wall (septum) between the atria and ventricles and at the junction where they meet.
Another very common name is atrioventricular canal defect (AV canal defect), which describes the large central hole and the abnormal “canal” where the valves and chambers meet. Older books and some doctors also use the term endocardial cushion defect, because the problem comes from a failure of a part of the forming heart called the endocardial cushions to fuse properly. You may also see names like common atrioventricular canal or AV canal–type VSD or inlet VSD associated with AV canal, which simply stress that the ventricular hole is in the inlet part, right below the valves.
Types
Doctors sort atrioventricular canal / septal defects into a few main types. Atrioventricular canal–type ventricular septal defect usually sits within these types, most often in the complete form.
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Partial AVSD – There is a hole in the lower part of the atrial septum (ostium primum ASD) and a cleft (split) in the mitral valve, but no large direct hole between the ventricles. Blood mainly moves abnormally between the atria, and valve leakage can add extra strain over time.
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Complete AVSD – There is a large combined hole at the center of the heart, which includes an atrial and an inlet ventricular defect plus a single common atrioventricular valve instead of two separate mitral and tricuspid valves. This is the setting where we most often see the atrioventricular canal–type ventricular septal defect as the ventricular part of the big central hole.
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Intermediate or transitional AVSD – There is a big primum ASD and a smaller inlet VSD with more separation of the valve tissue, so the valve may be partly divided but still abnormal. Blood can still shunt at both the atrial and ventricular levels, but sometimes the symptoms are a bit milder or appear later.
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Balanced vs unbalanced AVSD – In “balanced” defects the common valve sends blood fairly evenly to both ventricles; in “unbalanced” types one ventricle is much smaller, and the valve favors one side, making surgery and long-term planning more complex. Atrioventricular canal–type VSD can occur in either pattern depending on how the common valve sits over the ventricles.
Causes and risk factors
Because this defect forms while the baby is still in the womb, we usually talk about “causes and risk factors” rather than single simple causes. Often more than one factor is involved, and in many babies no clear cause is found.
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Down syndrome (Trisomy 21) – Down syndrome is the strongest known association, and about half of babies with complete atrioventricular septal defects have Down syndrome. Extra genetic material on chromosome 21 changes how the heart cushions and walls grow, which strongly raises the chance of an AV canal–type ventricular septal defect.
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Other chromosomal syndromes – Several other chromosome changes, such as 3p deletion and other rare microdeletions, can alter heart formation, including the region where the atrioventricular septum and cushions should fuse, making AV canal–type defects more likely.
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CHARGE syndrome – This complex syndrome, involving eye, ear, and other organ defects, often includes serious heart problems. One of the patterns reported in CHARGE is an atrioventricular septal defect, where cushion development is disturbed in early pregnancy.
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VATER/VACTERL association – Children with the VATER or VACTERL pattern can have several birth defects together, including spine, kidney, and heart problems. AV canal–type defects are one of the possible heart findings in this association.
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Ellis–van Creveld syndrome – This rare skeletal and ectodermal disorder is strongly linked with atrioventricular septal defects, probably because gene changes affect cartilage and cushion tissue that help form the valves and septa in the middle of the heart.
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Smith–Lemli–Opitz syndrome – In this metabolic and developmental condition, abnormal cholesterol synthesis changes many tissues, including the developing heart, and AV canal–type defects are one of the congenital heart problems that can appear.
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Holt–Oram syndrome – This syndrome affects upper limbs and the heart, and is caused by mutations in a gene important for heart and limb development. Children can have septal defects, including AV septal defects with inlet VSDs, because the early heart blueprint is disturbed.
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Noonan syndrome – Noonan syndrome is better known for pulmonary valve and other defects, but it is also a risk factor for complex septal and valve problems, including AVSD, due to altered signaling pathways that guide heart growth.
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Family history of congenital heart disease – If a parent or sibling has an AV canal defect or other serious heart defect, the chance that a baby will have a similar problem, including an atrioventricular canal–type VSD, is higher than in the general population, showing that inherited gene variants can contribute.
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Maternal gestational diabetes – Diabetes during pregnancy can increase the risk of non-syndromic AVSD, possibly because high blood sugar and related metabolic changes affect how the cushions and septa form in early pregnancy. Good blood sugar control can help lower this risk.
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Maternal obesity – Mothers with obesity before or during pregnancy have a higher risk of having a baby with congenital heart disease, including AV canal or septal defects, likely due to a mix of metabolic, hormonal, and inflammatory effects.
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Maternal rubella (German measles) infection – Catching rubella in early pregnancy can damage the developing heart and vessels, and is a well-known cause of several congenital heart defects, including septal and valve problems near the atrioventricular junction. Vaccination before pregnancy helps prevent this.
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Maternal smoking – Smoking during pregnancy almost doubles the risk of congenital heart disease, including atrioventricular canal and atrial septal defects, likely because smoke toxins and low oxygen disturb blood flow and signaling in the developing heart.
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Passive (second-hand) smoke exposure – Even when the mother does not smoke herself, frequent exposure to other people’s smoke has been linked to higher congenital heart disease risk, showing that even lower-level toxin exposure can be harmful to the fetal heart.
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Maternal diabetes before pregnancy – Women with pre-existing diabetes (type 1 or type 2) have a higher chance of having a baby with heart defects, including septal and valve abnormalities, when sugar levels are not tightly controlled around conception and early pregnancy.
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Certain medicines in early pregnancy (e.g., valproic acid) – Some medicines used for seizures or other conditions have been associated with a higher rate of congenital heart disease when taken in early pregnancy, and careful planning with doctors is important before pregnancy for women who need these drugs.
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Low folate or lack of multivitamins – Studies suggest that regular folic acid or multivitamin use before and in early pregnancy may lower the risk of some septal defects, while febrile illness without vitamins may increase risk, so poor folate status might indirectly contribute to AV canal–type defects.
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Exposure to some chemicals or organic solvents – Research suggests that certain chemical exposures in early pregnancy may raise congenital heart disease risk, although results are mixed and not specific to AV canal–type VSD. Still, avoiding unnecessary chemical exposure is advised.
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Abnormal left–right body patterning (heterotaxy) – Conditions where the organs are not arranged in the usual left–right pattern often include complex heart defects, and AVSD with inlet-type VSD is one of the lesions seen when the early heart tube twists or aligns abnormally.
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Unknown or multifactorial causes – In many babies with atrioventricular canal–type ventricular septal defect, no single clear cause is found. Experts believe that several small gene changes plus environmental factors work together, leading to a final common pathway where the endocardial cushions fail to fuse correctly.
Symptoms
Not every child has the same symptoms, and the age when signs appear can differ depending on how big the defect is and how much blood flows to the lungs.
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Fast breathing (tachypnea) – Many babies breathe quickly and shallowly because extra blood is flowing to the lungs, making breathing harder work and causing early signs of heart failure.
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Trouble breathing or shortness of breath (dyspnea) – As fluid builds in the lungs and the heart struggles, babies or children may look distressed when feeding or playing, and older children may get breathless on mild activity.
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Poor feeding – Infants may tire easily during feeds, stop often, or take a long time to finish a bottle or breastfeed, because feeding is like exercise and their heart and lungs cannot keep up.
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Poor weight gain or failure to thrive – Because feeding is stressful and energy needs are high, babies may gain weight very slowly or even lose weight, and growth charts may show them dropping down the percentiles.
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Cyanosis (blue lips or skin) – When there is mixing of oxygen-poor and oxygen-rich blood or when lung pressure becomes very high, some children may show bluish color on the lips, tongue, or fingertips, especially when crying or feeding.
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Sweating with feeds or mild activity – Many babies sweat heavily on the head and body while feeding because the heart works very hard, and the body activates stress pathways to try to keep up with the demand.
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Fast heart rate (tachycardia) – The heart often beats faster than normal to pump enough blood through the lungs and out to the body, and this may be seen as a rapid pulse or felt as a fast heartbeat.
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Frequent chest infections – Extra blood in the lungs and mild fluid build-up make the lungs more vulnerable, so babies and children may have repeated coughs, pneumonia, or wheezy illnesses.
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Swelling (edema) – In more advanced cases, fluid can build up in the legs, ankles, belly (ascites), or around the eyes, which is a sign of congestive heart failure and poor circulation.
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Enlarged liver (hepatomegaly) – The back-pressure from a struggling right side of the heart can make the liver big and tender, which the doctor can feel under the ribs during an exam.
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Heart murmur – Often the first sign noticed by a doctor is an abnormal heart sound or murmur when listening with a stethoscope, caused by blood flowing quickly through the central hole or leaking valves.
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Tiredness and low energy – Older children may say they feel tired all the time or cannot keep up with friends, because the heart cannot deliver enough oxygen for higher activity levels.
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Exercise intolerance – With time, even mild exercise like walking up stairs or playing sports may cause breathlessness, chest discomfort, or early fatigue, especially in those whose defect was repaired later or whose lung pressures stayed high.
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Palpitations or irregular heartbeat – Some teenagers or adults with repaired or unrepaired AV canal–type defects may notice irregular or racing heartbeats, because the stretched heart muscle and scar tissue can disturb the electrical system.
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Signs of pulmonary hypertension – Over many years, very high pressure in the lung arteries can cause symptoms like severe breathlessness, fainting, and chest pain, which are serious warning signs that need urgent specialist care.
Diagnostic tests
Doctors combine information from the child’s story, physical examination, bedside (manual) checks, blood and genetic tests, electrical tests of the heart rhythm, and detailed imaging to confirm an atrioventricular canal–type ventricular septal defect and plan treatment. Echocardiography is the main test, but chest X-ray, ECG, MRI, CT, and cardiac catheterization all have important roles depending on the case.
Physical examination tests
1. General observation and vital signs
The doctor first looks at the child’s overall appearance, breathing pattern, skin color, and level of activity, and measures heart rate, breathing rate, temperature, and blood pressure. Fast breathing, fast heart rate, sweating, poor weight gain, or bluish skin can all suggest heart failure from an AV canal–type VSD and help decide how urgent further tests are.
2. Cardiac auscultation (listening to the heart)
Using a stethoscope, the doctor listens over the chest for extra sounds and murmurs produced by blood flowing quickly through the central defect and across abnormal valves. In atrioventricular canal–type ventricular septal defect, there is often a harsh systolic murmur along the left sternal border and other added sounds that point strongly toward AVSD, which then leads to imaging to confirm the exact anatomy.
3. Palpation of the chest and pulses
The doctor feels the chest (precordium) to see if the heart beat is forceful or displaced, and checks pulses in the arms and legs. A very active or “heaving” precordium and strong or bounding pulses can reflect the large left-to-right shunt and high blood flow seen in AV canal–type defects, showing that the heart is enlarged and working hard.
4. Lung and abdominal examination
Listening to the lungs can reveal crackles or noisy breathing from fluid build-up, and feeling the abdomen can show an enlarged liver from back-pressure. These simple bedside signs help the doctor judge the severity of heart failure caused by the central defect even before any machines are used.
Manual and bedside tests
5. Pulse oximetry (oxygen saturation test)
A small sensor placed on the baby’s finger or toe uses light to measure how much oxygen is in the blood. In AV canal–type ventricular septal defect, pulse oximetry may be low if there is mixing of blood or lung damage, and it is a quick, painless way to screen newborns for serious heart disease.
6. Four-limb blood pressure measurement
Checking blood pressure in both arms and both legs helps to look for large differences that might suggest other heart problems, such as narrowing of the aorta, which can occasionally occur together with complex septal defects. Normal but sometimes low or high pressures also give clues about how well the heart is coping.
7. Growth and weight chart assessment
Weighing the child and plotting height and weight on standardized growth charts is a low-tech but very important “manual test.” Children with large AV canal–type defects often fall off their growth curves because they burn extra calories and feed poorly, so catch-up growth after surgery is one sign that the repair has helped.
8. Feeding or simple exercise observation
In babies, doctors and nurses watch a full feed and look for sweating, breathlessness, or need for frequent pauses, while in older children they may observe walking or gentle play. Quick fatigue or marked breathlessness with these simple tasks is an early functional sign that the defect is causing significant heart failure.
Laboratory and pathological tests
9. Complete blood count (CBC)
A CBC measures red blood cells, white blood cells, and platelets. In children with long-standing low oxygen, red blood cells may be high as the body tries to carry more oxygen, while signs of infection or anemia may reveal added problems that can worsen symptoms in AV canal–type defects.
10. Blood chemistry and organ function tests
Basic blood chemistry checks kidney and liver function and electrolytes. These tests are important before surgery and for children with heart failure, because poor circulation from an AV canal–type VSD can stress organs and some heart medicines can also affect kidney or liver function.
11. Arterial blood gas (ABG)
An ABG sample from an artery measures oxygen, carbon dioxide, and acidity of the blood. In serious AV canal–type defects, it helps assess how much the lungs are affected, whether oxygen levels are dangerously low, and how well the child might tolerate surgery or intensive treatment.
12. Genetic testing (karyotype and panels)
Because atrioventricular canal defects are strongly linked with Down syndrome and other genetic conditions, doctors often order a chromosome test (karyotype) and sometimes more detailed genetic panels. Finding a genetic cause can guide counseling for the family and help watch for other health issues linked to that syndrome.
Electrodiagnostic tests
13. Electrocardiogram (ECG)
An ECG uses skin electrodes to record the heart’s electrical activity. In atrioventricular canal–type ventricular septal defect, the ECG often shows signs of both atria and ventricles being enlarged, and characteristic patterns such as left axis deviation, which support the diagnosis and help follow the effect of surgery.
14. 24-hour Holter monitor
A Holter monitor is a small wearable ECG recorder that tracks the heart rhythm over a day or longer while the child goes about normal activities. It can pick up intermittent fast rhythms or pauses that may occur in some children with AV canal–type defects or after repair when the conduction system has been stretched or scarred.
15. In-hospital ECG telemetry
When children are very unwell or just had surgery, they are often connected to continuous ECG monitoring in hospital. This real-time tracing helps doctors catch dangerous rhythm problems early and to see how the heart responds to medicines, fluids, and breathing support.
16. Exercise ECG (for older children and adults)
In school-age children and adults with repaired AV canal–type defects, an exercise ECG (treadmill or bike test) shows how the heart rhythm and ECG pattern change with stress. It can reveal limited exercise capacity, arrhythmias, or ischemia and helps guide safe sports participation and follow-up plans.
Imaging tests
17. Chest X-ray
A chest X-ray is a simple picture of the heart and lungs. In AV canal–type ventricular septal defect, it may show an enlarged heart and extra blood flow markings in the lungs, which support the idea of a large left-to-right shunt and help judge the severity of heart failure and pulmonary hypertension.
18. Transthoracic echocardiogram (TTE)
This heart ultrasound from the chest wall is the main imaging test for atrioventricular canal–type VSD. It uses sound waves to show the exact position and size of the inlet VSD, the atrial defect, and the shape and leakage of the common or abnormal valves, and it measures how blood flows through the holes and valves in real time.
19. Fetal echocardiogram
If a routine pregnancy ultrasound raises concern, a detailed fetal heart ultrasound can be done before birth. Fetal echo can often detect complete AVSD with an inlet-type ventricular defect, which gives parents and doctors time to plan delivery in a center with pediatric heart specialists and to arrange early treatment.
20. Cardiac catheterization with angiography
In some cases, especially when lung pressure is very high or anatomy is complex, doctors insert thin tubes (catheters) into blood vessels and guide them into the heart under X-ray. They measure pressures and oxygen levels in each chamber and inject contrast dye to see detailed pictures of the AV canal–type defect and valves; this helps decide if surgery is possible and how soon it should be done.
Non-pharmacological (non-drug) treatments
1. Careful monitoring and regular follow-up
Children with atrioventricular canal–type VSD need regular visits with a pediatric cardiologist to check heart size, lung pressure, growth, and oxygen levels. The doctor may use echocardiograms, ECGs, and physical exams to adjust the care plan and decide the best timing for surgery. Early and regular follow-up helps pick up heart failure signs, valve leakage, or lung hypertension before they cause serious, permanent damage.
2. Optimized feeding and high-calorie nutrition
Babies with this defect often breathe fast and get tired easily during feeds, so they burn more calories than they take in. Dietitians and cardiologists may recommend high-calorie formulas or fortifying breast milk so the baby can gain weight without needing very large volumes. Small, frequent feeds, special nipples, and careful pacing can reduce fatigue and help the baby grow enough to be strong for surgery.
3. Nasogastric or gastrostomy tube feeding
If a baby cannot safely drink enough by mouth because of breathlessness or fatigue, doctors may suggest a feeding tube through the nose (NG tube) or directly into the stomach (gastrostomy). This lets parents give calories slowly and safely while the baby rests and breathes comfortably. Good nutrition supports brain growth, immune function, and wound healing after surgery and lowers the risk of failure to thrive.
4. Fluid management and careful fluid restriction
Because the heart pumps inefficiently, extra fluid can build up in the lungs and body. Doctors may limit total daily fluid, including milk or formula, to reduce congestion in the lungs. This is usually done together with diuretics and close monitoring of weight, urine output, kidney function, and electrolytes. The goal is to relieve symptoms without causing dehydration or kidney injury.
5. Reduced dietary salt (sodium) intake
Salt causes the body to hold on to water. For older children, limiting salty foods such as chips, instant noodles, and processed meats can reduce fluid retention and ease swelling and breathlessness. Parents are taught how to read food labels and cook with less salt. In babies, the main focus is on not adding salt and avoiding very salty processed complementary foods.
6. Positioning to ease breathing
Keeping the baby in a semi-upright position, especially after feeds, can reduce pressure on the lungs and diaphragm and make breathing easier. Elevating the head of the bed or using a safe wedge may improve comfort and reduce episodes of fast breathing. Positioning is a simple but effective supportive measure that families can use at home under guidance from their care team.
7. Oxygen therapy when needed
Some infants may need extra oxygen, especially during illnesses or before/after surgery. Oxygen can reduce the work of breathing and support the heart by improving the amount of oxygen delivered to tissues. It must be used carefully in children with high lung pressures, because in some advanced situations it may have limited benefit or specific risks, so it is always supervised by specialists.
8. Infection prevention and vaccination
Respiratory infections like RSV, flu, and pneumonia can be very dangerous for babies with this heart defect, as they already have high blood flow to the lungs. Keeping vaccines up to date, practicing good hand hygiene, and avoiding crowded, smoky places are critical. Some high-risk infants may qualify for special injections like palivizumab to reduce RSV risk, based on local guidelines.
9. Management of anemia and other medical problems
Low hemoglobin (anemia), thyroid disease, and other conditions common in children with Down syndrome can make the heart work harder. Treating anemia with iron or other therapies and managing thyroid function help improve oxygen delivery and overall strength. This supportive care reduces symptoms of heart failure and improves outcomes after surgery.
10. Respiratory physiotherapy and airway clearance
Some children benefit from gentle chest physiotherapy, breathing exercises (in older children), and techniques to clear mucus, especially if they have repeated lung infections. Better lung health reduces strain on the heart and lowers the risk of complications around the time of surgery. These therapies are tailored by respiratory therapists and physiotherapists to the child’s age and abilities.
11. Careful management of intercurrent illnesses
Common illnesses like colds, diarrhea, or fever can quickly worsen heart failure symptoms in these children. Families are taught to watch for faster breathing, poor feeding, or reduced urine and to seek prompt medical care. Early treatment of infections and careful fluid balance during illness can prevent hospitalizations and dangerous decompensation.
12. Growth and developmental support
Children with atrioventricular canal–type VSD, especially those with Down syndrome, may have delays in motor and cognitive development. Early intervention programs, physiotherapy, occupational therapy, and speech therapy support learning and independence. Better development also improves feeding skills, exercise capacity, and quality of life before and after heart surgery.
13. Structured activity and safe exercise
Once the cardiologist approves, older children are encouraged to stay active within safe limits. Light play, walking, and age-appropriate activities help maintain muscle strength, healthy weight, and emotional well-being. Intense exertion that triggers severe breathlessness, chest pain, or dizziness is avoided. Activity plans are individualized and re-checked after surgery.
14. Psycho-social and family support
Caring for a baby with a serious heart defect is stressful. Counseling, peer support groups, and social work services help parents cope with fear, financial worries, and complex care routines. Reduced parental stress often improves adherence to medications, follow-up visits, and feeding plans, which in turn supports better outcomes for the child.
15. Endocarditis prevention measures
Although routine antibiotic prophylaxis is now more limited, good oral hygiene and regular dental care remain very important to reduce the risk of infective endocarditis, an infection of the inner lining of the heart. For certain high-risk situations after surgery, the cardiologist may recommend antibiotics before dental or invasive procedures according to current guidelines.
16. Pre-surgical optimization
Before surgery, the team focuses on getting the child in the best possible shape: improving nutrition, treating infections, adjusting heart failure medicines, and checking lung pressures and valve function carefully. This reduces the risk of complications during and after the operation and improves the chance of a strong recovery and shorter hospital stay.
17. Post-operative cardiac rehabilitation and follow-up
After repair, children still need structured follow-up to monitor valve function, residual shunts, and heart rhythm problems. Some may need temporary limits on activity and guided rehabilitation to regain strength. Long-term follow-up into adulthood is often needed, as valve regurgitation or conduction disturbances can appear years later.
18. Genetic counseling for the family
Because AV canal defects are strongly linked with chromosomal abnormalities like Down syndrome, families may be offered genetic counseling. Counselors explain the risk of recurrence in future pregnancies and discuss testing options. Understanding these risks helps families plan and may lead to earlier diagnosis and treatment in a future child.
19. Education about warning signs
Parents are taught to recognize early signs of worsening heart failure, such as faster breathing, sweating during feeds, failure to gain weight, or new bluish color around lips and fingers. Quick recognition and action prevent severe deterioration and allow timely adjustment of medications or earlier surgery if needed.
20. Coordinated multidisciplinary care
Optimal care often involves a team: pediatric cardiologist, cardiac surgeon, dietitian, physiotherapist, developmental specialist, and social worker. Regular team meetings and shared care plans reduce gaps in treatment, ensure that medicines, nutrition, and surgery timing fit together, and improve survival and long-term quality of life for the child.
Drug treatments (medical therapy)
⚠️ Important: Doses and timing must always be set by a pediatric cardiologist or neonatologist. The examples below are general explanations, not dosing instructions for self-use.
1. Furosemide (loop diuretic)
Furosemide is a strong “water tablet” used to remove extra fluid from the lungs and body in heart failure. It acts on the kidney’s loop of Henle to block re-absorption of sodium and water, increasing urine output and reducing lung congestion. It is approved for edema linked to heart failure in adults and children. Doctors adjust the dose by weight and kidney function and watch electrolytes like potassium and sodium to avoid dehydration and imbalance.
2. Spironolactone (potassium-sparing diuretic)
Spironolactone blocks the hormone aldosterone, helping the body get rid of salt and water while holding on to potassium. In children with heart failure from a canal-type VSD, it is often added to furosemide to enhance diuresis and reduce heart enlargement. It can protect the heart and blood vessels from long-term aldosterone effects. Doctors monitor kidney function and potassium levels carefully, because high potassium can be dangerous, especially if the child also takes ACE inhibitors.
3. Thiazide diuretics (e.g., chlorothiazide, hydrochlorothiazide)
Thiazide diuretics act on the distal tubule of the kidney to promote gentle sodium and water loss. In some infants, adding a thiazide to furosemide improves fluid control when one drug alone is not enough. These medicines can lower blood pressure and reduce swelling but may lower potassium and sodium. Pediatric cardiologists use weight-based dosing and adjust according to symptoms, urine output, and blood tests.
4. Enalapril (ACE inhibitor)
Enalapril is an angiotensin-converting enzyme (ACE) inhibitor used in heart failure to dilate blood vessels, reduce afterload (the resistance the heart pumps against), and improve symptoms. In AV canal–type VSD, it helps the left ventricle pump more efficiently and can reduce valve leakage and heart size. FDA labeling notes benefits in heart failure by suppressing the renin-angiotensin-aldosterone system. Side effects include low blood pressure, kidney dysfunction, and high potassium, so dosing is started low and increased slowly.
5. Captopril (ACE inhibitor)
Captopril is another ACE inhibitor often used in infants because it has a shorter action and can be adjusted more easily. It relaxes blood vessels and reduces the workload on the heart, improving forward flow and reducing lung congestion in VSD and AVSD. Guidelines describe ACE inhibitors, along with diuretics and digoxin, as common medical therapies for VSD-related heart failure. Side effects are similar to enalapril and include cough, low blood pressure, and kidney effects.
6. Lisinopril and other ACE inhibitors
Other ACE inhibitors such as lisinopril are sometimes chosen in older children, depending on local practice and experience. All drugs in this class work by blocking the conversion of angiotensin I to angiotensin II, a powerful vessel-tightening hormone. This leads to lower blood pressure, reduced heart workload, and improved symptoms. Doctors choose the specific agent and dose based on age, kidney function, and how the child responds.
7. Angiotensin II receptor blockers (ARBs, e.g., losartan)
ARBs block the angiotensin II receptor rather than ACE itself. They also relax blood vessels and reduce afterload and may be used when ACE inhibitors cause troublesome cough or are not tolerated. Evidence in children is more limited, so ARBs are usually reserved for selected cases and specialist centers. Monitoring of kidney function and potassium is still essential because their biological effects are similar to ACE inhibitors.
8. Digoxin (cardiac glycoside)
Digoxin strengthens the heart’s pumping action and slows the heart rate by inhibiting the sodium-potassium ATPase pump in heart muscle cells. It can improve symptoms and weight gain in infants with heart failure from a large VSD or AV canal defect when used with diuretics and ACE inhibitors. FDA labeling provides detailed pediatric maintenance dosing based on weight and kidney function. Side effects include nausea, vomiting, appetite loss, and dangerous rhythm disturbances if levels become too high.
9. Beta-blockers (e.g., carvedilol)
Beta-blockers such as carvedilol slow the heart rate and reduce the effects of stress hormones on the heart. In chronic heart failure, they can improve heart function and survival in adults and are sometimes used in older children with dilated ventricles or valve regurgitation after AV canal repair. Doses are started very low and increased gradually while watching blood pressure, heart rate, and symptoms, because too much can initially worsen heart failure.
10. Other beta-blockers (e.g., metoprolol, propranolol)
Metoprolol and propranolol are alternative beta-blockers used based on age, rhythm problems, or associated conditions. Propranolol may be chosen if there are certain rhythm disturbances or other indications. All beta-blockers share similar potential side effects: low heart rate, low blood pressure, fatigue, and cold extremities. In children with AV canal defects, they are used carefully and only under specialist guidance.
11. Milrinone (intravenous inotrope and vasodilator)
Milrinone is a phosphodiesterase-3 inhibitor used in hospital, especially around surgery. It strengthens the heart’s contractions and relaxes blood vessels in the lungs and body, which helps the heart pump more effectively. It is commonly used during and after cardiac surgery for AV canal repair to support circulation and lower pulmonary pressures. Because it can cause low blood pressure and rhythm problems, it is given by IV infusion with close monitoring in intensive care.
12. Dobutamine (intravenous inotrope)
Dobutamine is another IV medicine used to support heart pumping in acute heart failure or immediately after surgery. It stimulates beta-1 receptors in the heart, increasing contraction strength and cardiac output. It is usually used for short periods in intensive care. Side effects can include fast heart rhythms, high blood pressure, or increased oxygen demand, so doctors balance benefits and risks very carefully.
13. Dopamine (vasoactive inotrope)
Dopamine, at certain doses, can increase heart pumping and blood pressure in children with low output after surgery or severe heart failure. It acts on dopaminergic and adrenergic receptors depending on the dose. Because it can also increase heart rate and oxygen demand, it is used only in the ICU with close monitoring and usually for short durations until the child is stable.
14. Sildenafil (pulmonary vasodilator)
Sildenafil, a phosphodiesterase-5 inhibitor, relaxes blood vessels in the lungs and is used in children with pulmonary arterial hypertension to reduce lung pressures and improve exercise capacity. In AV canal–type VSD with high pulmonary pressures, it may be used before or after surgery if the pulmonary vascular resistance remains elevated. Doses are carefully calculated by weight, and doctors watch for low blood pressure and headache.
15. Bosentan and other endothelin-receptor antagonists
Bosentan blocks endothelin-1, a powerful vasoconstrictor, and is used for pulmonary arterial hypertension in selected children. In patients with long-standing large shunts, it may help lower lung pressures, but it is not a substitute for timely surgical repair. Liver function tests are needed regularly, because bosentan can cause liver injury. It is usually started and monitored in specialized pulmonary hypertension centers.
16. Low-dose aspirin (antiplatelet)
After certain types of patch repairs or valve procedures, low-dose aspirin may be prescribed to reduce the risk of small clots forming on patches or artificial materials. It works by blocking platelet aggregation through inhibition of cyclo-oxygenase. Side effects include stomach irritation and bleeding risk, so dosing is weight-based and monitored. Aspirin is not used for viral illnesses like influenza because of Reye syndrome risk in children.
17. Anticoagulants (e.g., warfarin) in special cases
Warfarin and other anticoagulants are not routine for simple AV canal repairs but may be needed if mechanical valves are used, if there are certain rhythm problems, or if large clots are present. These medicines thin the blood by interfering with vitamin K–dependent clotting factors. Children on warfarin need frequent blood tests (INR checks), careful dosing, and monitoring for bleeding or bruising.
18. Antibiotics (for infections and selected prophylaxis)
Children with AV canal defects are more vulnerable to serious infection when they develop pneumonia or sepsis. Antibiotics are used to treat confirmed infections based on local guidelines. In some high-risk post-surgical situations, short-term prophylactic antibiotics before certain dental or surgical procedures may be advised to prevent infective endocarditis. Choice of drug and duration depend on the type of infection and local resistance patterns.
19. Iron therapy for anemia
If a child with AV canal–type VSD also has iron-deficiency anemia, iron supplements help increase hemoglobin so the blood can carry more oxygen. This can improve energy levels, growth, and tolerance of heart failure. Iron is usually given by mouth, with dose set by weight, and can cause stomach upset or constipation. Doctors monitor hemoglobin and ferritin to avoid both under- and over-treatment.
20. Diuretic combinations and adjustments
In practice, many children need combinations of furosemide, spironolactone, and sometimes a thiazide to control symptoms. Guidelines on VSD management highlight diuretics, digoxin, and ACE inhibitors as the mainstay of medical treatment before surgery. Doctors adjust doses and combinations over time to balance symptom control with safety, using regular weight checks, blood pressure readings, and blood tests.
Dietary molecular supplements
1. Omega-3 fatty acids (fish oil)
Omega-3 fatty acids from fish oil have anti-inflammatory and potential anti-arrhythmic effects and may support heart health in older children and adults with heart disease. They can help improve lipid profiles and may slightly lower blood pressure. However, evidence in infants and young children with congenital heart disease is limited, and doses must be carefully chosen to avoid bleeding risk. Any supplement should only be used if the cardiologist and dietitian agree it is appropriate.
2. Coenzyme Q10 (CoQ10)
CoQ10 is a substance involved in energy production in mitochondria, the “power plants” of cells. Some studies in adult heart failure suggest CoQ10 may slightly improve heart function and symptoms, but strong data in children with AV canal defects are lacking. If considered, it is used as an adjunct, not a replacement for standard treatment. Doses are adjusted by weight, and doctors watch for possible stomach upset or interactions with blood thinners.
3. L-carnitine
L-carnitine helps transport fatty acids into mitochondria for energy production in heart and muscle cells. In certain inherited metabolic heart diseases, carnitine supplementation is clearly useful. In structural heart defects like canal-type VSD, its role is less well defined, but some clinicians may consider it if there is suspicion of carnitine deficiency. It is given in weight-based doses and may cause mild gastrointestinal side effects.
4. Magnesium
Magnesium is important for muscle contraction and heart rhythm stability. In hospital, IV magnesium is used to treat some dangerous arrhythmias. Oral magnesium supplements may be given if blood levels are low, often due to diuretics. Normal magnesium supports heart rhythm and muscle function, but excess can cause low blood pressure and slow reflexes. Therefore, supplementation should be guided by blood tests and medical supervision.
5. Vitamin D
Vitamin D is crucial for bone health and immune function. Many infants and children with chronic illnesses or limited sun exposure have low vitamin D levels. Correcting deficiency helps bone strength and may support overall health, which is important for surgical recovery. Standard pediatric vitamin D dosing is used, with blood tests to avoid very high levels that could cause high calcium and kidney problems.
6. B-complex vitamins (including folate and B12)
B-vitamins help in red blood cell production and energy metabolism. If a child has poor diet or certain genetic conditions, low B-vitamin levels may contribute to anemia or fatigue. Supplementation can improve blood counts and energy when deficiency is documented. As with all supplements, doses appropriate for age and weight are chosen by clinicians to avoid imbalances or unnecessary use.
7. Iron (as a nutritional supplement)
Beyond treating clear iron-deficiency anemia, some children with borderline iron levels may receive low-dose iron to support hemoglobin production. Adequate iron helps tissues get enough oxygen, supporting growth and activity. Over-supplementation can cause stomach pain, constipation, and even poisoning, so iron must never be given casually or stored within reach of children. Blood tests guide dosing and duration.
8. Selenium
Selenium is an antioxidant trace element important for certain heart and muscle enzymes. Severe selenium deficiency is rare but can cause heart muscle problems. In regions with low selenium intake or in children on long-term special formulas, supplementation may be considered. Doses are small and must be carefully calculated, because high selenium intake can cause hair loss, nail changes, and nerve problems.
9. Antioxidant vitamins (vitamin C and E)
Vitamins C and E help protect cells from oxidative stress. Some research in adult cardiovascular disease explores their role, but strong evidence of benefit in pediatric structural heart disease is limited. When used, they are usually given in standard dietary doses rather than high “megadoses.” A balanced diet rich in fruits and vegetables is usually preferred over large supplement pills.
10. Probiotic supplements
Probiotics support gut health and may slightly reduce the risk of some infections or antibiotic-related diarrhea. In children with complex heart disease, maintaining a healthy gut may indirectly help nutrition and immune function. However, in very fragile or immunocompromised infants, certain probiotics may pose infection risks. Any probiotic use should be checked with the cardiology and nutrition team.
Immunity-booster, regenerative and stem-cell-related drugs
1. Standard childhood vaccines
Routine vaccines (such as those against measles, polio, diphtheria, pertussis, and pneumococcus) are one of the most powerful “immunity boosters” because they train the immune system to fight serious infections before they occur. Children with AV canal–type VSD are especially vulnerable to lung infections, so keeping vaccines up to date is critical. Vaccine schedules may be slightly adjusted around surgery but are usually completed on time.
2. Palivizumab for RSV prevention in high-risk infants
Palivizumab is a monoclonal antibody given as monthly injections during RSV season to some high-risk infants, including those with significant congenital heart disease. It does not “boost” the immune system in general but provides passive protection against RSV, reducing hospitalizations and severe lung disease. The dose is weight-based and determined by pediatric specialists according to national guidelines.
3. Intravenous immunoglobulin (IVIG)
IVIG is a pooled antibody product sometimes used in children with immune deficiencies or certain inflammatory conditions. In structural heart disease, it is not a routine therapy but may be used if there is an associated immune problem or specific autoimmune condition. It provides broad passive immunity and modulates harmful immune responses but is expensive and used only in hospital under close monitoring.
4. Erythropoiesis-stimulating agents (e.g., erythropoietin) in select cases
Erythropoietin and related drugs stimulate the bone marrow to produce more red blood cells. In certain chronic kidney diseases they are standard, but in congenital heart disease they are only used in special circumstances. By improving hemoglobin, they can help deliver more oxygen to tissues, but they may raise blood pressure or clot risk. They are always given under specialist supervision with frequent blood tests.
5. Experimental stem cell therapies for pediatric heart failure
Research trials are exploring the use of bone marrow–derived or umbilical cord–derived stem cells injected into the heart muscle to improve function in children with severe heart failure. For canal-type VSD, the mainstay of treatment remains surgery, and stem cell therapy is not standard care. Where trials exist, dosing, routes, and safety measures are controlled by strict protocols, and families are fully counseled about risks and uncertainties.
6. Gene and regenerative therapies in early research
Gene therapy and advanced regenerative techniques aim to repair or replace faulty genes or damaged heart tissue. Currently, for AV canal defects, these approaches are experimental and not available as routine treatment. They may eventually offer new options for children with residual heart failure after surgery, but at present the proven treatments remain surgery plus optimized medical care. Families should be cautious about unproven “regenerative” products advertised online.
Surgeries – key procedures and why they are done
1. Complete atrioventricular canal repair
This is the main operation for complete AV canal defects. Surgeons open the heart with cardiopulmonary bypass, close the lower (ventricular) and upper (atrial) holes with patches, and divide the single common AV valve into two separate valves, one on each side. The operation aims to stop abnormal left-to-right shunts, protect the lungs from high pressure, and restore more normal valve function. It is usually done in early infancy, often before 6 months of age.
2. Patch closure of canal-type VSD component
In some partial forms or when the VSD component is dominant, the surgeon may focus on carefully closing the ventricular hole with a patch while preserving valve function. This prevents blood from leaking from the left ventricle to the right ventricle and lungs, reducing volume overload and heart failure. Often, this is combined with repair or tightening of the AV valve to stop regurgitation.
3. Pulmonary artery banding (palliative)
In some very small or high-risk infants, or where early complete repair is not possible, a band may be placed around the pulmonary artery to reduce excessive blood flow to the lungs. This is a temporary “palliative” step that buys time for the baby to grow and become strong enough for full repair later. The band must be carefully sized and is usually removed or revised at the time of definitive surgery.
4. Re-operation for left AV valve regurgitation
After initial repair, some children have persistent or recurrent leakage of the left AV valve (mitral valve). If this leakage is moderate or severe and causes symptoms or heart enlargement, a second operation may be needed to repair or, rarely, replace the valve. The goal is to restore good one-way flow from atrium to ventricle and prevent long-term heart failure. Decisions are based on echo findings and symptoms over years of follow-up.
5. Surgery for associated defects (e.g., coarctation, PDA)
Children with AV canal–type VSD may have other structural heart problems, such as a patent ductus arteriosus (PDA) or coarctation of the aorta. These may be corrected at the same time as the canal repair or in staged procedures. Fixing associated defects reduces extra volume or pressure load on the heart, helping the repair last longer and improving overall circulation.
Prevention – what can and cannot be prevented
Most AV canal defects are not preventable once pregnancy has begun, but some steps may lower the overall risk of congenital heart disease and prevent complications in affected children.
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Pre-pregnancy folic acid and healthy diet – Taking folic acid and eating a balanced diet before and during early pregnancy supports normal fetal development and may reduce some birth defect risks.
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Control of maternal diabetes and thyroid disease – Good control of long-term conditions before and during pregnancy reduces stress on the developing baby and may lower risk of heart and other defects.
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Avoidance of alcohol, tobacco, and illicit drugs in pregnancy – These substances can interfere with normal organ formation, including the heart, and also harm fetal growth.
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Avoiding certain teratogenic medicines – Some drugs known to cause birth defects should be avoided or switched before pregnancy with medical guidance, especially medicines that affect the renin-angiotensin system.
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Rubella vaccination before pregnancy – Immunization against rubella in childhood or before pregnancy prevents maternal infection that can cause serious congenital heart disease in the baby.
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Genetic counseling when there is a family history or Down syndrome – Families with one child with AV canal or known chromosomal problems may get counseling to understand recurrence risk and testing options in future pregnancies.
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Early prenatal care and ultrasound – Regular antenatal visits and targeted fetal echocardiography in high-risk pregnancies allow early diagnosis and planning for delivery in centers with pediatric cardiac surgery.
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Preventing infections in the baby – After birth, good hygiene, vaccination, and avoiding smoke reduce lung infections, which can worsen heart failure and increase hospitalizations.
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Adhering to follow-up and medication plans – Ensuring all appointments and medicines are followed exactly helps prevent avoidable deterioration and emergency admissions.
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Timely surgery before permanent lung damage – The most important “prevention” step is to repair the defect at the right time, usually in early infancy, before pulmonary vascular disease becomes irreversible.
When to see a doctor or go to the hospital
Parents should seek urgent medical care if a baby or child with a known or suspected AV canal–type VSD has very fast or labored breathing, flaring nostrils, grunting, or chest retractions. These can be signs of worsening heart failure or lung infection. Blue lips or tongue, cold extremities, or a sudden drop in feeding and urine output are also emergency warning signs.
Even if there is no emergency, parents should contact the cardiology team promptly if the child is not gaining weight, sweats heavily during feeds, has repeated chest infections, or seems unusually tired or irritable. Doctors may need to adjust medicines, check oxygen levels, or consider earlier surgery. Regular scheduled check-ups must never be skipped, even if the child seems well.
What to eat and what to avoid
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Focus on nutrient-dense calories – For babies, fortified breast milk or high-calorie formula recommended by the care team helps growth without excess volume. Older children should have balanced meals with adequate protein, healthy fats, and complex carbohydrates.
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Include plenty of fruits and vegetables – Soft, easy-to-eat fruits and cooked vegetables provide vitamins, minerals, and fiber that support overall health and recovery from surgery.
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Use healthy fats – Sources like vegetable oils, nut butters (if age-appropriate and safe), and avocado can add calories without large volume, helping underweight children gain energy.
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Ensure enough protein – Lean meats, eggs, dairy, and legumes support muscle repair, immune function, and healing after operations. A dietitian can help tailor amounts to age and kidney function.
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Limit very salty foods – Processed snacks, instant soups, and fast food can contain a lot of sodium, which increases fluid retention and strain on the heart. Parents are advised to cook with little salt and avoid adding table salt.
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Avoid sugary drinks and excessive sweets – Sweet sodas and juices add calories with little nutrition and may worsen weight problems in older children without improving strength. Water and milk are usually preferred drinks.
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Be cautious with herbal and over-the-counter supplements – Many herbal products have unknown effects on blood pressure, heart rhythm, or clotting and may interact with heart medicines. They should not be used without the cardiologist’s approval.
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Adjust fluid intake according to medical advice – Some children need restricted fluids; others may not. Parents should follow the exact total fluid limits given by the care team and include all drinks and liquid medicines in the count.
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Watch for feeding fatigue – If a baby takes very long to feed or falls asleep quickly, smaller, more frequent feeds or tube supplementation may be needed. Forcing large feeds can exhaust the baby and worsen breathing.
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Plan nutrition carefully around surgery – Before and after heart surgery, special feeding plans may be necessary. A dietitian will often increase calories and protein to support healing, while doctors adjust fluid limits according to heart and lung status.
Frequently asked questions (FAQs)
1. Is atrioventricular canal–type VSD the same as AVSD?
Atrioventricular canal–type VSD is part of the AVSD family, where a central hole affects both the atrial and ventricular septum and the AV valves. The term emphasizes that the main defect involves the ventricular septum in the canal region, but the overall problem is very similar and is managed like other AVSDs.
2. What causes this defect?
The defect occurs very early in pregnancy when the inner “cushion” tissues that should form the central heart walls and valves do not join properly. The exact cause is usually unknown, but it is strongly associated with chromosomal conditions like Down syndrome and sometimes with other genetic or environmental factors. Parents did nothing wrong to cause it.
3. How is the defect diagnosed?
Doctors suspect the defect if they hear a heart murmur or see signs of heart failure. An echocardiogram (ultrasound of the heart) shows the central hole, valve structure, and blood flow patterns. Chest X-ray and ECG help assess heart size and rhythm, and sometimes cardiac catheterization is used to measure pressures directly.
4. Can this defect close by itself?
Small isolated VSDs can sometimes close on their own, but significant AV canal defects almost never close completely without surgery because they involve both the septum and the valves. Most children with a true canal-type defect will need an operation to correct it and protect the lungs and heart from long-term damage.
5. When is surgery usually done?
For complete AVSD, surgery is usually recommended in early infancy, often between 2 and 6 months of age, depending on symptoms, growth, and lung pressures. Timing may vary for partial or unbalanced forms, but the goal is to operate before permanent pulmonary vascular disease develops.
6. What happens if surgery is delayed too long?
If the defect remains open for many years, very high blood flow and pressure can damage the blood vessels in the lungs. Eventually, pulmonary vascular disease and Eisenmenger syndrome may develop, making surgery too risky or impossible and causing lifelong cyanosis and heart failure. That is why early diagnosis and timely surgery are so important.
7. Will my child need medicines forever after surgery?
Many children gradually stop heart failure medicines as their heart recovers after a successful repair. Some may need long-term therapy if there is residual valve leakage, elevated lung pressure, or rhythm problems. The cardiologist decides based on echocardiograms, symptoms, and growth. Lifelong periodic follow-up is usually advised even if the child feels well.
8. Can children with this defect live normal lives after repair?
Many children who have timely surgery and good follow-up grow up to live active, near-normal lives. Some may have mild exercise limitations or need occasional additional procedures, especially for valve problems. School, sports with reasonable limits, and adult life including work and family are often possible with regular cardiology care.
9. Is this condition always linked to Down syndrome?
No. While AV canal defects are strongly associated with Down syndrome, they can also occur in children with a normal chromosome pattern. However, when an AV canal defect is diagnosed, doctors often recommend genetic testing to check for Down syndrome and other syndromes, as this affects follow-up and counseling.
10. Can my child play sports?
Before surgery, children are usually limited to gentle activity because hard exercise may worsen breathlessness or heart failure. After successful repair and once the cardiologist is satisfied with heart function and valve status, many children can take part in non-contact sports and play with their friends, with some limits if needed. Individual advice is essential.
11. Will my child need endocarditis prophylaxis?
Recommendations have changed over time. In general, children with repaired congenital heart disease may need antibiotics before certain dental or surgical procedures only if they are at highest risk (for example, residual defects near patches). The cardiologist will give a clear written plan. Good dental hygiene is crucial for everyone.
12. How often will we need check-ups?
In infancy, visits may be every few weeks or months to watch growth and symptoms. After surgery, follow-up is frequent at first, then may be once or twice a year in childhood and less often in adulthood. The exact schedule depends on how the valves and pressures look on echocardiograms over time.
13. What are the main risks of surgery?
Modern surgery for AV canal defects has very good success rates in experienced centers, but risks include bleeding, infection, rhythm disturbances, residual valve leakage, and, rarely, death. Your surgeon will explain these risks in detail and how they are reduced by careful planning and intensive care support. Long-term benefits usually outweigh these risks for significant defects.
14. Can another pregnancy be safer after one child with this defect?
Most families with one child with an AV canal defect will not have another child with the same condition, but the risk is slightly higher than in the general population. Genetic counseling, pre-pregnancy planning, and targeted fetal echocardiography in future pregnancies can provide early detection and support.
15. Is online information enough to manage this condition?
No. While high-quality online resources can help parents understand the condition and treatments, they cannot replace care from a pediatric cardiology team. Every child is unique, and only doctors who know the full medical story can safely choose medicines, timing of surgery, and activity limits. Use online information to ask better questions, not to make independent treatment decisions.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: February 27, 2025.