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Congenital heart disease, also referred to as congenital heart defects, is an umbrella term for any heart condition that you are born with. Congenital heart disease can range from minor conditions that never cause problems or develop into more serious heart issues, or more serious conditions that require treatment. Congenital heart defects occur when the walls, valves, or chambers of the heart muscle, or the blood vessels near the heart, do not develop normally before birth.
The type of congenital heart disease depends on where the birth defect occurred, and there are three main types that can be present.
Blood Vessel Defects
If your blood vessels have developed to be too narrow at certain points, this will cause your heart to work harder to pump blood. The vessels may also link incorrectly, meaning that they are sending blood in the wrong directions such as oxygen-poor blood to the body or oxygen-rich blood to the lungs, instead of the other way around as it should be.
Common blood vessel defects include aortic coarctation, patent ductus arteriosus (PDA), pulmonary artery stenosis, anomalous pulmonary venous return, and transposition of the great arteries, when two main arteries leaving the heart are reversed.
Heart Valve Defects
These defects occur when your heart valves did not develop properly, leading to your heart valves being too narrow, not closing properly, being completely closed or being misshapen. These conditions make it hard for your heart to pump blood through your body. Common heart valve defects include bicuspid aortic valve disease, mitral valve prolapse (MVP), and Ebstein’s anomaly.
These defects refer to holes in the heart tissue, either in the walls between the two upper chambers (atria) or the two lower chambers (ventricles) of the heart. Septal defects cause oxygen-rich blood from the lungs to mix with oxygen-poor blood from the body, meaning that blood leaving the heart may have less oxygen than usual. Common septal defects include atrial septal defect (ASD), patent foramen oval (PFO), and ventricular septal defect (VSD).
Researchers have yet to discover what exactly causes congenital heart disease, although there seems to be a correlation showing increased risk of your heart not developing properly if your mother had rubella or influenza (flu) during the first three months of pregnancy, had Type 1 diabetes or Type 2 diabetes, took ibuprofen when 30 weeks or more pregnant, or took certain medications for acne, bipolar disorder or seizures. In many cases, congenital heart disease develops in conjunction with other genetic diseases or disorders, such as Down syndrome and Turner syndrome.
To diagnose whether you have congenital heart disease, your doctor will begin by asking if you experience any symptoms and what they may be, as well as your medical history. Your doctor will then conduct a physical exam and listen to your heart with a stethoscope. After this, they will order a variety of tests to determine which form of congenital heart disease you are suffering from.
These tests can include a chest X-ray, echocardiogram, electrocardiogram (EKG), exercise stress test, heart MRI, heart CT scan, pulse oximetry, and transesophageal echogram (TEE). Your doctor may also conduct cardiac catheterization, which can be used as a form of treatment as well.
Treatment for congenital heart disease will depend on the type and severity of the condition, although some forms of heart defects will not require any treatment. If treatment is required, it will typically include medications that make your heart work better, such as ACE inhibitors, calcium channel blockers, anticoagulants, beta-blockers, and diuretics.
Your doctor may also place an implantable heart device to control your heart rate, such as a pacemaker, or to fix an irregular heartbeat, such as an implantable cardioverter defibrillator (ICD). Another form of treatment is cardiac catheterization (also used to diagnose congenital heart disease), in which a catheter is guided to your heart and can be used to widen your arteries or repair septal defects.
In more severe cases, you may require heart valve surgery to repair or replace one or more of your heart valves. Surgery options can include either open heart surgery or minimally invasive heart surgery. In cases where the congenital heart defect is life threatening, a complete heart transplant may be the only solution.
Not everyone with congenital heart disease experiences symptoms, and the symptoms can vary based on age, type of heart defect, number of heart defects, and severity of the disease. However, common symptoms of congenital heart disease can include dizziness, fatigue, shortness of breath, heart murmurs, heart palpitations, irregular heart rhythms (arrhythmias), swelling of the ankles, feet, or hands, and bluish fingernails, lips, and skin.
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Invasive therapies may also be used to treat an abnormal heart rhythm, such as electrical cardioversion which sends electrical impulses through your chest wall and allows normal heart rhythm to restart, or catheter ablation which disconnects the pathway of the abnormal rhythm. If your doctor determines that electrical devices are the best course of action, you may be given a permanent pacemaker, an implantable cardioverter-defibrillator (ICD), or biventricular (B-V) pacemakers and defibrillators.