Overview
Atrioventricular canal defect is a congenital heart condition where there is a hole in the wall between the heart's chambers and problems with the valves controlling blood flow in the heart. This extra blood flow can lead to the heart working too hard, causing it to grow larger. Untreated, it can cause heart failure and high blood pressure in the lungs. Treatment usually involves surgery during the first year of life to close the hole in the heart and repair the valves. Symptoms can include difficulty breathing, rapid breathing, excessive sweating, fatigue, irregular heartbeat, lack of appetite, poor weight gain, swelling in the legs, ankles, and feet, and wheezing.
Understanding the disease
Symptoms
The symptoms of atrioventricular canal defect (AVCD) depend on whether the defect is partial or complete. If the defect is partial, symptoms may not appear until early adulthood and may include fatigue, weakness, nausea, lack of appetite, shortness of breath, swelling in the legs, ankles, and feet, rapid or irregular heartbeat, and chest pressure or pain. If the defect is complete, symptoms usually develop in the first weeks of life and may include blue or gray skin color due to low oxygen levels, difficulty breathing or rapid breathing, excessive sweating, fatigue, irregular or rapid heartbeat, lack of appetite, poor weight gain, and wheezing. Complications later in life may include breathing problems due to lung damage, irregular heart rhythms, leaky heart valves, and narrowing of the heart valves.
Risk Factors
Risk factors for developing atrioventricular canal defect include:
- Genetics: Congenital heart disease seems to run in families and is associated with many genetic syndromes, such as children with Down syndrome.
- Pregnancy complications: German measles (rubella) during pregnancy can affect the baby's heart development.
- Maternal health issues: Poorly controlled diabetes during pregnancy and smoking may increase the risk of congenital heart defects in the baby.
- Alcohol use: Drinking alcohol during pregnancy has been linked to an increased risk of heart defects in the baby. It is important to note that not all cases of atrioventricular canal defect have a known cause, and it can occur randomly.
Development
Atrioventricular canal defect occurs during fetal development when the heart is forming. It is a congenital heart defect, meaning it is present at birth. In a normal heart, there are dividing walls between the atria and ventricles, as well as valves that separate the chambers and control blood flow. In an atrioventricular canal defect, there is a hole in the dividing wall between the atria and ventricles, and the valves are also abnormal. This causes blood to flow improperly through the heart and can lead to complications if left untreated.
Assessment and Diagnosis
Triage
If you suspect that someone has atrioventricular canal defect or are experiencing any of its symptoms, such as difficulty breathing, rapid breathing, excessive sweating, fatigue, irregular heartbeat, lack of appetite, poor weight gain, swelling in the legs, ankles, and feet, wheezing, chest pressure, or pain, it is important to consult a doctor as soon as possible. Early diagnosis and treatment can significantly improve the outcome and reduce the risk of complications.
Diagnosis
Diagnosis of atrioventricular canal defect may be performed before birth through a pregnancy ultrasound or special heart imaging. After birth, symptoms of complete atrioventricular canal defect usually become apparent within the first weeks. A healthcare provider may hear a whooshing sound (heart murmur) while listening to a baby's heart. Tests to diagnose atrioventricular canal defect may include pulse oximetry and electrocardiogram (ECG/EKG).
Management and Treatment
Complications
Complications of atrioventricular canal defect may include:
- Breathing problems due to lung damage
- Irregular heart rhythms
- Leaky heart valves (valve regurgitation)
- Narrowing of the heart valves
- Difficulty breathing or rapid breathing
- Excessive sweating
- Fatigue
- Irregular or rapid heartbeat
- Lack of appetite
- Poor weight gain
- Swelling in the legs, ankles, and feet
- Wheezing In a partial atrioventricular canal defect, symptoms may not appear until early adulthood and can include:
- Fatigue and weakness
- Nausea and lack of appetite
- Persistent cough or wheezing
- Rapid or irregular heartbeat (arrhythmia)
- Reduced ability to exercise
- Shortness of breath
- Chest pressure or pain It is important to note that the specific complications and severity of the condition may vary from person to person.
Treatment
There are multiple treatments for atrioventricular canal defect, depending on the severity and type of the condition. In general, treatment involves surgery during the first year of life to close the hole in the heart and repair the valves. Some of the procedures and medical interventions used to treat atrioventricular canal defect include:
- Surgery: The primary treatment for atrioventricular canal defect is surgery. The procedure, called the Fontan procedure, is typically performed in stages, with the first stage done within the first year of life. The goal of the surgery is to redirect blood flow and improve the mixing of oxygenated and deoxygenated blood.
- Medications: Depending on the complications that arise, medications may be prescribed to manage symptoms and prevent further damage. These may include diuretics to manage fluid buildup, blood thinners to prevent blood clots, and medications to control irregular heart rhythms or high blood pressure.
- Follow-up care: After the initial surgery, regular follow-up appointments with a pediatric cardiologist or cardiothoracic surgeon are essential to monitor the child's heart function, identify any potential complications, and address them promptly. It is important to note that treatment greatly improves the outlook for children with atrioventricular canal defect. However, complications may still occur later in life, such as breathing problems due to lung damage, irregular heart rhythms, leaky heart valves, narrowing of the heart valves, and difficulty breathing or rapid breathing. Remember, you should consult with a healthcare professional for personalized advice on treating atrioventricular canal defect.
Preparing for medical consultation
To prepare for an appointment for atrioventricular canal defect, consider the following steps:
- Make an appointment with a doctor trained in diagnosing and treating heart conditions (cardiologist) for follow-up care, even if you haven't developed complications.
- When you make the appointment, ask if there's anything you need to do in advance, such as avoiding food or drinks for a short period of time.
- Write down your symptoms, if any, including any that may seem unrelated to atrioventricular canal defect, and when they began. Be specific and recall the timeline, such as days, weeks, and months.
- Gather key personal information, including a family history of heart defects and treatment you received as a child.
- Create a list of all medications, vitamins, or other supplements you take and their doses.
- Prepare a list of questions to ask your healthcare provider, such as the most likely cause of your symptoms, recommended tests, and available treatments.
- Consider bringing a family member or friend along for support. They can help you remember information and provide additional perspective during the appointment. Remember to be honest and open with your healthcare provider about your symptoms, concerns, and medical history. This will help them provide the best care and recommendations for your specific situation.