Congenital Heart Defects Congenital Heart Disease

Overview, Causes, & Risk Factors

Congenital heart disease, also known as CHD, is any birth defect which affectsthe heart or the large blood vessels. Congenital means that the defect ispresent at birth.

What is going on in the body?

There are many different birth defects that can affect the heart.For example, the valves of the heart may be missing or not work properly.In other cases, there may be holes in the walls of the heart or abnormalconnections between blood vessels and the heart. The defects may be mildand cause no problems. Or they may be life threatening and require surgery hoursafter birth. Some common congenital heart defects include:

  • atrial septal defect,which is an abnormal opening between the two upper chambers of the heart
  • ventricular septal defect,which is an abnormal opening between the two lower chambers of the heart
  • tetralogy of Fallot,which is a set of four typical heart abnormalities
  • coarctation of the aorta,which is a narrowing of the aorta
  • pulmonary atresia,which is an abnormality of the opening between the heart and the arteries to the lungs
  • patent ductus arteriosus,which is an abnormal opening between the aorta and the artery to the lung
  • transposition of the great vessels,which is a switch in the normal positions of the aorta and the artery to the lung
  • What are the causes and risks of the disease?

    Many times the cause of CHD is unknown. Known causes ofCHD include:

  • alcoholand drug abuseby a mother during pregnancy
  • certain medicines used by a mother during pregnancy such as thoseused to treat seizures
  • diseases affecting the mother, such asdiabetes
  • genetic, inherited, or chromosomal defects such as those that occur withDown syndrome
  • viral infections of the fetus during pregnancy, especiallyrubella
  • Symptoms & Signs

    What are the signs and symptoms of the disease?

    Symptoms of CHD can be present at birth or in early infancyor may only develop later in life. Symptoms depend on the type and severityof the defect. Examples of symptoms and signs of CHD include:

  • an abnormal blue color to the skin, called cyanosis, which occurs whenthere is not enough oxygen in the blood
  • abnormal heart sounds, called murmurs, heard by the healthcareprovider with a stethoscope during examination
  • abnormally low or high blood pressure
  • breathing trouble, including shortness of breath
  • congestive heart failure
  • failure to grow and develop, known as failure to thrive
  • fluid collection in the lungs, known aspulmonary edema
  • Diagnosis & Tests

    How is the disease diagnosed?

    The physical exam usually makes the doctor suspect CHD.There are many tests that can help diagnose CHD. These include:

  • an EKG,which measures the electrical activity of the heart
  • a chest X-ray,which allows the doctor to see the size and position of the heart
  • an echocardiogram,which is a test that uses sound waves to see the beating heart. This test cancheck how well the heart is beating and also makes many heart defects visible.
  • a cardiac catheterization,which allows measurement of blood flow and pressure within the heartand great vessels
  • Prevention & Expectations

    What can be done to prevent the disease?

    Often nothing can be done to prevent CHD. Women ofchildbearing age should make sure they have received all standard vaccines.This can help prevent cases due to certain viral infections during pregnancy,such as rubella.Avoidance of alcohol and substance abuse during pregnancy will preventthose causes of CHD.

    What are the long-term effects of the disease?

    Small defects may eventually repair themselves andcause no long-term effects. The long-term effects usually dependon how severe the CHD is. Some untreated heart defects can be fatal.Larger defects usually cause more symptoms. Whether or not surgerycan repair the defect will greatly affect the outcome.

    Until the defect is corrected, the heart is under a lot of strain.The heart can get larger in size and may not beat in a normal rhythm. Peoplewho have this disease can develop high blood pressure,and their lungs can become congested. Those with heart defects areoften at an increased risk for heart infections, which may be life threatening.

    What are the risks to others?

    CHD itself is not catching and poses no risk to others.However, infections that cause CHD, such as the rubellavirus, may be contagious. Genetic causes of CHD may be passed on toone’s children. Genetic counselingmay be helpful for some parents.

    Treatment & Monitoring

    What are the treatments for the disease?

    Treatment often involves open heart surgeryto correct the heart defect. Sometimes more than one defect occursat the same time and more than one operation is needed. With certaindefects, medicine may be all that is needed. In others, no treatmentother than observation is needed.

    What are the side effects of the treatments?

    Surgery to correct a heart defect can be simple or verycomplicated. Side effects of treatment depend on the severity of the defect.Some people recover completely, while others may still have a problem withhigh blood pressureand a very strained heart. The heart may not beat in a normal rhythm.Surgery itself can be very risky and sometimes fatal. Bleeding and infectionmay also occur.

    What happens after treatment for the disease?

    The person needs time to recover fully after surgery.Antibiotics to help fight infection and other medicines to help the heartmay be given after surgery. Close monitoring of the heart and lungs isneeded. Sometimes, a person will need more surgery later in life.

    How is the disease monitored?

    Regular visits to the doctor and regular testing are needed.This helps check that the heart is working properly and the lungs remain clear.Any new or worsening symptoms should be reported to the doctor.

    Article type: xmedgeneral