What is Congenital Heart Disease?
Congenital heart disease is one or more problems with the heart’s structure that exist since birth. Congenital means that you’re born with the defect. Congenital heart disease, also called congenital heart defect, can change the way blood flows through your heart. Some congenital heart defects might not cause any problems. Complex defects, however, can cause life-threatening complications.
Advances in diagnosis and treatment have allowed babies with congenital heart disease to survive well into adulthood. Sometimes, signs and symptoms of congenital heart disease aren’t seen until you’re an adult.
If you have congenital heart disease you likely will need care throughout your life. Check with your doctor to determine how often you need a checkup.
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Before Congenital Heart Disease Treatment
Symptoms
Some congenital heart defects cause no signs or symptoms. For some people, signs or symptoms occur later in life. And symptoms can return years after you’ve had treatment for a heart defect.
Common congenital heart disease symptoms in adults include:
. Abnormal heart rhythms (arrhythmias)
. A bluish tint to the skin, lips and fingernails (cyanosis)
. Shortness of breath
. Tiring quickly upon exertion
. Swelling of body tissue or organs (edema)
When to see a doctor
If you’re having worrisome symptoms, such as chest pain or shortness of breath, seek emergency medical attention.
If you have signs or symptoms of congenital heart disease or were treated for a congenital heart defect as a child, make an appointment to see your doctor.
Causes
Researchers aren’t sure what causes most types of congenital heart disease. Some congenital heart diseases are passed down through families (inherited).
To understand congenital heart disease, it helps to know how the heart works.
. The heart is divided into chambers — two upper chambers (atria) and two lower chambers (ventricles).
. The right side of the heart moves blood to the lungs through blood vessels (pulmonary arteries).
. In the lungs, blood picks up oxygen and then returns to the left side of your heart through the pulmonary veins.
. The left side of the heart then pumps the blood through the aorta and out to the rest of the body.
Congenital heart disease can affect any of these heart structures, including the arteries, valves, chambers and the wall of tissue that separates the chambers (septum).
Risk factors
Certain environmental and genetic risk factors might play a role in the development of congenital heart disease, including:
. Your genes. Congenital heart disease appears to run in families (inherited) and is associated with many genetic syndromes. For instance, children with Down syndrome often have heart defects. Genetic testing can detect Down syndrome and other disorders during a baby’s development.
. German measles (rubella). Having rubella during pregnancy may affect how the baby’s heart develops while in the womb.
. Diabetes. Having type 1 or type 2 diabetes during pregnancy also may affect a baby’s heart development. Gestational diabetes generally doesn’t increase the risk of congenital heart disease.
. Medications. Taking certain medications while pregnant can cause congenital heart disease and other birth defects. Medications linked to heart defects include lithium for bipolar disorder and isotretinoin (Claravis, Myorisan, Zenatane, others), which is used to treat acne. Always tell your doctor about the medications you take.
. Alcohol. Drinking alcohol while pregnant also contributes to the risk of heart defects in the baby.
. Smoking. A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.
Complications
Congenital heart disease complications that might develop years after you receive treatment include:
. Irregular heartbeats (arrhythmias). Arrhythmias occur when the electrical signals that coordinate your heartbeat don’t work properly. Your heart may beat too fast, too slowly or irregularly. In some people, severe arrhythmias can cause stroke or sudden cardiac death if not treated. Scar tissue in your heart from previous surgeries can contribute to this complication.
. Heart infection (endocarditis). Endocarditis is an infection of the inner lining of the heart (endocardium). It generally occurs when bacteria or other germs enter your bloodstream and move to your heart. Untreated, endocarditis can damage or destroy your heart valves or trigger a stroke. If you are at high risk of endocarditis, it’s recommended that you take antibiotics one hour before dental cleanings. Regular dental checkups are important. Healthy gums and teeth reduce the risk that bacteria will enter the bloodstream.
. Stroke. A congenital heart defect can allow a blood clot to pass through your heart and travel to your brain, where it reduces or blocks blood supply.
. Pulmonary hypertension. This is a type of high blood pressure that affects the arteries in your lungs. Some congenital heart defects send more blood to the lungs, causing pressure to build. This eventually causes your heart muscle to weaken and sometimes to fail.
. Heart failure. Heart failure (congestive heart failure) means your heart can’t pump enough blood to meet your body’s needs. Some types of congenital heart disease can lead to heart failure.
Adult congenital heart disease and pregnancy
Women with mild congenital heart disease can have a successful pregnancy. However, some women with complex congenital heart defects are advised against pregnancy.
If you’re thinking about becoming pregnant, talk to you doctor about the possible risks and complications. Together you can discuss and plan for any special care you might need during pregnancy.
Prevention
Both men and women with congenital heart disease are at increased risk of passing some form of congenital heart disease to their children. Your doctor might suggest genetic counseling or screening if you plan to have children.
Diagnosis
To diagnose congenital heart disease, your doctor will do a physical exam and listen to your heart with a stethoscope. You will be asked questions about your symptoms and medical and family history.
Tests to diagnose or rule out congenital heart disease include:
. Electrocardiogram (ECG). This painless test records the electrical signals in your heart. An ECG can diagnose many heart problems, including irregular heartbeats and blocked arteries. Sometimes, ECGs are done while you exercise, typically on a bike or treadmill. This method is called a stress test.
. Chest X-ray. These images can show changes in the size and shape of your heart and problems with your lungs.
. Pulse oximetry. A small sensor attached to your finger can estimate how much oxygen is in your blood.
. Echocardiogram. Sound waves (ultrasound) create images of the moving heart. Your doctor can use this test to see how your heart’s chambers and valves are pumping blood through your heart. Echocardiograms may also be done while you exercise, typically on a bike or treadmill.
. Transesophageal echocardiogram. If more-detailed images of your heart are needed, your doctor may recommend a transesophageal echocardiogram. In this test, a flexible tube containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). It’s done while you are sedated.
. Cardiac CT scan and MRI. These tests create images of your heart and chest. Cardiac CT scans use X-rays. Cardiac MRI uses a magnetic field and radio waves to create images of your heart. For both tests, you lie on a table that slides inside a long tube-like machine.
. Cardiac catheterization. Your doctor might use this test to check blood flow and blood pressures in your heart. You’ll be given sleeping medication. Then, the doctor gently inserts a catheter into an artery or vein in your groin, neck or arm and up to your heart. X-rays are used to guide the catheter to the correct position. Sometimes, dye is injected through the catheter. The dye helps blood vessels show up better on the images.
During Congenital Heart Disease Treatment
Treatment
Congenital heart disease can often be treated successfully in childhood. However, some heart defects may not be serious enough to repair during childhood, but they can cause problems as you grow older.
Treatment of congenital heart disease in adults depends on how severe your heart problem is. You may simply be monitored, or you may need medications or surgery.
Watchful waiting
Relatively minor heart defects might require only occasional checkups with your doctor to make sure your condition doesn’t worsen. Ask your doctor how often you need to be seen.
Medications
Some mild congenital heart defects can be treated with medications that help the heart work more efficiently. You might also need medications to prevent blood clots or to control an irregular heartbeat.
Surgeries and other procedures
Several surgeries and procedures are available to treat adults with congenital heart disease.
. Implantable heart devices. A device that helps control your heart rate (pacemaker) or that corrects life-threatening irregular heartbeats (implantable cardioverter-defibrillator or ICD) may help improve some of the complications associated with congenital heart defects.
. Catheter-based treatments. Some congenital heart defects can be repaired using catheterization techniques. These treatments allow a repair to be done without open-heart surgery. Instead, the doctor inserts a thin tube (catheter) into a leg vein or artery and guides it to the heart with the help of X-ray images. Once the catheter is positioned, the doctor threads tiny tools through the catheter to repair the defect.
. Open-heart surgery. If catheter procedures can’t fix your heart defect, your doctor might recommend open-heart surgery.
. Heart transplant. If a serious heart defect can’t be repaired, a heart transplant might be an option.
After Congenital Heart Disease Treatment
Follow-up care
If you’re an adult with congenital heart disease, you’re at risk of developing complications — even if you had surgery to repair a defect during childhood. Lifelong follow-up care is important. Ideally, a cardiologist trained in treating adults with congenital heart defects will manage your care.
Follow-up care may include regular doctor checkups and occasional bloodwork and imaging exams to screen for complications. How often you’ll need to see your doctor will depend on whether your congenital heart disease is mild or complex.
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