CONDITIONS

Congenital Heart Disease

What Is Congenital Heart Disease

Congenital heart disease is a term used to describe heart conditions in infants, children, and adults that are caused by abnormalities in prenatal heart development (congenital heart defects). Congenital heart disease causes the most deaths within the first year of life compared to any other birth defect, and affects approximately 500,000 American adults.

Among the most common of congenital heart diseases are:

  • Tetralogy of Fallot, which causes low blood oxygen levels. This condition is characterized by a hole between the right and left ventricles, narrowing of the valve and artery that connect the heart and the lungs, a displaced aorta, and a thickened right ventricle wall.
  • Atrial septic defect, which causes a hole in between the two upper chambers of the heart, known as atria.
  • Ventricular septic defect, which causes a hole in between the right and left lower chambers of the heart, or ventricles.
  • Aortic stenosis, in which the aortic valve is narrowed.

Risk Factors For Congenital Heart Disease

The following are risk factors for congenital heart disease:

  • Genetics. Congenital heart diseases are associated with many genetic conditions that are characterized by an addition or subtraction of chromosomes, including Down syndrome, which is caused by an extra copy of the 21st chromosome.
  • Family History. A fetus’ normal risk of developing congenital heart disease is 1%. If a mother has a congenital heart disease, the risk can raise to almost 7%. If a father has a congenital heart disease, the risk raises to about 2%, and if a sibling has a congenital heart disease, the risk raises about 3% to 10%. These risk levels can vary from condition, and can be drastically different in the case of autosomal-dominant defects, which have a 50% chance of being passed on from parent to offspring.
  • Diabetes during pregnancy. Stress put on a mother’s body by diabetes can interfere with the development of the fetus’s heart. Rates of congenital heart disease were seen to rise as much as 15% in cases where mothers were diabetic before and during pregnancy. Note that this does not include gestational diabetes, which has been shown to not have the same risk.
  • In-utero exposure. Fetuses that are exposed to cigarette smoke, alcohol, certain viruses such as Rubella (German measles), and certain medications, such as thalidomide and isotretinoin, are more likely to develop congenital heart disease than those that are not.

Diagnosing Congenital Heart Disease

Tests for congenital heart diseases can occur at varying stages of life.

Pre-natal tests for congenital heart disease include:

  • Fetal echocardiogram. Fetal echocardiograms allow doctors to take pictures of the fetus’ heart with ultrasound waves to check for any structural or functional abnormalities. Fetal echocardiograms can be done via an abdominal ultrasound (gel is placed on abdomen and ultrasound probe is rubbed around the belly to capture images) or endovaginal ultrasound (ultrasound transducer is placed in the vagina and captures images from there).

Infancy, childhood, and adulthood diagnostic tests include:

  • Electrocardiogram (ECG). An ECG uses small sensors (electrodes) attached to your chest and arms to record electrical signals as they travel through your heart. According to the National Heart, Blood and Lung Institute (NHLBI), the electrical signals originate in a group of cells called the sinus node or sinoatrial (SA) node. The SA node is located in the right atrium, the upper right chamber of the heart. In a normal adult heart at rest, the SA node sends an electrical signal to begin a heartbeat 60 to 100 times a minute.
  • Echocardiogram. An echocardiogram uses sound waves, or ultrasound, to create detailed images of your heart and can help detect arrhythmias and structural defects.
  • Chest x-ray. A chest x-ray can provide an image of the heart that allows doctors to see if the heart is enlarged or there is fluid in the lungs.
  • Pulse oximetry. In this test, a sensor is placed on the finger to measure the amount of oxygen travelling in the blood. Deficient oxygen levels can indicate heart problems.
  • Cardiac catheterization. In this test, a thin tube (catheter) is inserted into the artery, usually through the groin area. This test can help doctors to better visualize a heart defect and also allows doctors to perform non-invasive reparative surgery.

Symptoms of Congenital Heart Disease

Many congenital heart diseases do not show signs or symptoms, and are only detected upon the first major event (i.e. heart attack, heart failure). However, certain severe congenital heart diseases can present symptoms upon birth. These symptoms include:

  • Rapid breathing
  • Cyanosis (blue-tint of skin caused by lack of oxygen)
  • Fatigue
  • Poor circulation

Prognosis

The mortality rate for congenital heart disease depends largely on the type of defect. Many infants born with congenital heart disease live healthy lives with minimal restrictions. Most will need to monitor their hearts during times of sickness due to a susceptibility to infection.

Living With Congenital Heart Disease

There is not much you can do about having a congenital heart disease, though there are things you can do to improve your overall heart health and reduce your risk of heart attack/failure:

  • Stop smoking. An estimated 20% of all deaths due to heart disease are directly linked to smoking.
  • Keep your blood pressure and cholesterol under control. People with high blood pressure and cholesterol are at an elevated risk for heart disease. About 50% of ischaemic strokes (caused by a blockage of the artery to the brain) are caused by high blood pressure.
  • Manage your weight. About one in three American adults is obese (weighing at least 20 percent above the “suggested” weight for their height), which doubles their risk for coronary artery disease (CAD) at a given age.
  • Engage in regular cardiovascular exercise. Exercise helps the heart work more efficiently, reducing blood pressure, raising HDL cholesterol, decreasing the tendency of blood to form clots, moderating stress, helping the body use insulin, and helping people maintain a healthy weight. Sedentary people who begin a regular program of exercise reduce their risk of a heart attack by 35 to 55 percent. Low-intensity activities, such as gardening or walking, if done regularly and over the long term, can decrease the risk of heart attack. Speak with your doctor about the right routine for you.
  • If you have diabetes, keep your blood sugar levels under control. People with diabetes are twice as likely to have a heart attack or stroke.
  • Eat a healthy diet. Opt for high fiber foods such as fruits, vegetables, and whole grains, as well as omega-3 oils such as coldwater fish and salmon), and mono- and polyunsaturated fats. But limit saturated fats and avoid trans fats, often found in fried foods, processed foods, and commercial baked goods.
  • Limit salt. The American Heart Association recently reduced the amount of salt recommended for everyone to just 1,500 mg a day, which is about two-thirds of a teaspoon.
  • Control stress.
  • Tame alcohol intake. There’s a growing consensus that light to moderate alcohol consumption–that is, two drinks or less a day for a man, one drink for a woman (a drink is defined as 12 oz. of beer, 4 oz. of wine, or 1.5 oz. of 80-proof spirits) can help prevent heart attacks. However, drinking more than that can increase the risk of heart attack and stroke.
  • Educate yourself about your condition so that you can know as much as you can about heart disease. This will help ensure you are getting the best treatment available, as well as train you to recognize any potentially harmful side effects or disease progression.

Screening

Screening for congenital heart disease begins in utero, with ultrasound imaging of the fetal heart. Infants, toddlers, and children, are then monitored for signs of heart irregularities by their pediatricians at their annual physicals.

Prevention

Promoting overall heart health will help to lower your risk of heart defect complications such as heart attack and heart failure. The following are tips for a heart healthy lifestyle:

  • Quit smoking. An estimated 20% of deaths due to heart disease in the United States are linked directly to smoking.
  • Reduce your blood cholesterol. For every 1 percent reduction in high blood cholesterol, there’s a 2 to 3 percent decline in the risk of heart attack.
  • Avoid or control hypertension. For every one-point reduction in diastolic blood pressure, there’s a 2 to 3 percent decline in the risk of heart attack.
  • Stay active. Exercise helps the heart work more efficiently, reducing blood pressure, raising HDL cholesterol, decreasing the tendency of blood to form clots, moderating stress, helping the body use insulin, and helping people maintain a healthy weight. Sedentary people who begin a regular program of exercise reduce their risk of a heart attack by 35 to 55 percent. Low-intensity activities, such as gardening or walking, if done regularly and over the long term, can decrease the risk of heart attack.
  • Maintain a healthy weight. About one in three American adults is obese (weighing at least 20 percent above the “suggested” weight for their height), which doubles their risk for CAD at a given age. Obesity also increases the risk for hypertension, and high blood cholesterol.
  • Avoid or control diabetes. Type 2 diabetes (non-insulin-dependent), is an important risk factor for heart disease. According to the American Heart Association, heart disease and stroke are the number one cause of death for patients with type 2 diabetes, and adults with type 2 diabetes are two to four times more likely to have heart disease than those who do not.
  • Consider a drink a day. There’s a growing consensus that light to moderate alcohol consumption—that is, two drinks or less a day for a man, one drink for a woman (a drink is defined as 12 oz. of beer, 4 oz. of wine, or 1.5 oz. of 80-proof spirits) can help prevent heart attacks. However, drinking more than that can increase the risk of heart attack and stroke.
  • Take low-dose aspirin. The recommended regimen–a baby aspirin (81 milligrams) daily or half a regular aspirin (160 milligrams) very other day–can lower the risk of heart attack by about one-third by reducing the ability of platelets in the blood to stick together and thus form a clot. Aspirin can have side effects and isn’t right for everyone, so consult with your doctor.

Medication And Treatment

Most congenital heart diseases cannot be cured with medications, though medications can help manage symptoms, treat complications, and prevent future damaging cardiac events. These include:

Side effects of antiarrhythmics include:

Side effects of anticoagulants and antiplatelet medications include:

Because anticoagulants lengthened the time required to form a blood clot, patients taking anticoagulants are at a higher risk for excessive bleeding and hemorrhaging. Speak to your doctor about the risks and benefits of taking anticoagulants. It is especially important to take into consideration this potentially life threatening side effect.

  • Diuretics, which help to decrease excess fluid in the body, and lower blood pressure.
    • Chlorthalidone (Hygroton)
    • Hydrochlorothiazide (Hydrodiuril, Microzide, Esidrix)
    • Indapamide (Lozol)
    • Metolazone (Mykrox, Zaroxolyn).

    Side effects of diuretics include:

    • Frequent urination
    • Arrhythmia (irregular heartbeat)
    • Weakness
    • Muscle cramps
    • Dehydration
    • Dizziness/confusion
    • Nausea/loss of appetite
  • Digoxin, which helps the heartbeat become strongerSide effects of digoxin include:
    • Nausea
    • Headache
    • Vomiting/Diarrhea
    • Breast enlargement in men
  • Vasodilators, which increase the diameter of blood vessels to allow for easier blood flow, ultimately taking stress off of the heart.
    • Hydralazine hydrochloride (Apresoline)
    • Minoxidil (Loniten).

    Side effects of direct-acting vasodilators include:

    • Dizziness
    • Headache
    • Anxiety
    • Mild Rash
    • Muscle or Joint pain
    • Nausea/vomiting
    • Diarrhea/constipation
    • Fast heartbeat
    • Flu-like symptoms
    • Swelling in the hands, ankles, or feet
  • Antiarrhythmics, which help prevent irregular heartbeats. These include:
    • Phenytoin (Dilantin, Phenytek)
    • Propanolol (Inderal, Innopran)
    • Quinidine
    • Blurred vision
    • Headache
    • Insomnia
    • Dry mouth
    • Fatigue
    • Irregular heart beat
    • Nausea
    • Vomiting
    • Difficulty breathing
  • Anticoagulants and Antiplatelet medications, which help prevent blood clots. These include:
    • Aspirin
    • Warfarin (Coumadin)
    • Dabigitran (Pradaxa)
    • Rivaroxaban (Xarelto)
    • Apixaban (Eliquis)
    • Nausea
    • Frequent nosebleeds
    • Headaches
    • Back pain
    • Rash
    • Easy bruising
    • Increased menstrual bleeding
    • Hair loss
    • Diarrhea

 

  • Antibiotics during surgical or dental procedures to protect against the infection of the heart.

In many cases, surgery may be necessary to cure a congenital disease. Surgeries vary in levels of complication and can be performed at any age. Many infants with serious congenital heart defects require immediate operation.

Complementary and Alternative Treatment

The following list of heart health supplements is offered by the University of Maryland Medical Center that may help lower the overall risk of heart disease for individuals with congenital heart defects. Always check with your cardiologist or primary doctor before adding supplements to your regimen for treating and preventing heart failure. Many people with heart conditions take multiple medications, including blood-thinning medications, blood pressure medications, and others. The supplements below may interact with these (and other medications) and may not be right for people with certain medical conditions.

  • Magnesium is particularly important for maintaining a normal heart rhythm and is often used by physicians to treat irregular heartbeat (arrhythmia). People with heart failure are often at risk for developing an arrhythmia. In addition, some diuretics (water pills) may cause your body to lose too much magnesium.
  • Carnitine. Early studies show L-carnitine supplements may reduce your chances of developing heart failure after a heart attack and improve exercise capacity if you already have heart failure.
  • Coenzyme Q-10. Several research studies suggest that CoQ10 supplements can help reduce swelling in the legs, enhance breathing by reducing fluid in the lungs, and increase exercise capacity in people with heart failure.
  • Creatine is a naturally occurring amino acid (protein building block) found mainly in muscles. In a few studies of people with heart failure, injections of creatine (in addition to standard medical care) provided improvement in heart function and ability to exercise compared to those who received placebo.
  • Vitamin B1 (Thiamine may be related to heart failure in several ways. First, low levels of thiamine can contribute to the development of heart failure. On the flip side, people with severe heart failure can lose a significant amount of weight, including muscle mass (called cachexia), and become deficient in many nutrients, including thiamine. In addition, diuretics (water pills) can cause your body to lose too much thiamine.
  • Amino acids. A few small studies suggest these amino acids might be helpful for heart failure, but more research is needed:
    • Arginine (needed for the body to make nitric oxide, which helps blood flow)
    • Taurine (helps heart muscle contract)

Stress reduction practices. Since stress is associated with heart disease, it’s prudent to try techniques to help reduce it. The following methods have been shown to reduce stress in some people:

  • Meditation
  • Yoga, Tai’ Chi, and other forms of moderate exercise such as walking
  • Deep breathing
  • Visualization
  • Biofeedback

When To Contact A Doctor

Call 911 if you are experiencing the symptoms of a HEART ATTACK which include:

  • Chest pain or pressure, or a strange feeling in the chest.
  • Sweating.
  • Shortness of breath.
  • Nausea or vomiting.
  • Pain, pressure, or a strange feeling in the back, neck, jaw, or upper belly, or in one or both shoulders or arms.
  • Lightheadedness or sudden weakness.
  • A fast or irregular heartbeat.

You should not hesitate to call 911 if you are experiencing any of these symptoms that come on suddenly. You could be having a STROKE.

  • Numbness, tingling, weakness, or loss of movement in your face, arm, or leg, especially on only one side of your body.
  • Vision changes.
  • Trouble speaking.
  • Confusion or trouble understanding simple statements.
  • Problems with walking or balance.
  • Severe headache that is different from past headaches.

Questions For A Doctor

You will probably have different questions to ask your doctor depending on your heart condition. Be open about all your concerns. If you’re having difficulty focusing, bring along a friend or family member. Below you’ll find general questions you might want to ask your doctor about heart disease as suggested by the American Heart Association.

QUESTIONS ABOUT MEDICATION

  • What is the name of the medicine?
  • Is this the brand or generic name?
  • What is the medicine supposed to do?
  • What happens if I miss a dose of my medicine?
  • How will I know that my medication is working?
  • What are the risks of taking this medication?
  • What are the risks of NOT taking this medication?

QUESTIONS ABOUT DIET

  • What kinds of foods should I eat?
  • What kinds of foods should I avoid?
  • Should I restrict my calories or fat intake to a certain level?
  • What are some cooking tips that I should follow?
  • What do I need to know about eating out?
  • Do I need to see a nutritionist or dietitian?
  • Are there any groups in the community that can help me with my nutrition goals?
  • How can I control the portions? How much salt may I eat?

QUESTIONS ABOUT EXERCISE

  • Can I exercise?
  • Can I play sports?
  • What are the best types of activities for me?
  • How much activity do I need?
  • Can I have sex?