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Congenital heart disease

 

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth.

Causes

Congenital heart disease can describe a number of different problems affecting the heart. It is the most common type of birth defect. CHD causes more deaths in the first year of life than any other birth defects.

Congenital heart disease is often divided into 2 types: cyanotic (blue skin color caused by a lack of oxygen) and non-cyanotic. The following lists cover the most common congenital heart diseases:

Cyanotic:

  • Ebstein's anomaly
  • Hypoplastic left heart
  • Pulmonary atresia
  • Tetralogy of Fallot
  • Total anomalous pulmonary venous return
  • Transposition of the great vessels
  • Tricuspid atresia
  • Truncus arteriosus

Non-cyanotic:

  • Aortic stenosis
  • Atrial septal defect (ASD)
  • Atrioventricular canal ( endocardial cushion defect )
  • Coarctation of the aorta
  • Patent ductus arteriosus (PDA)
  • Pulmonic stenosis
  • Ventricular septal defect (VSD)

These problems may occur alone or together. Most children with CHD do not have other types of birth defects. However, heart defects may be part of genetic and chromosomal syndromes. Some of these syndromes may be passed down through families.

Examples include:

  • DiGeorge syndrome
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • Trisomy 13
  • Turner syndrome

Often, no cause for the heart disease can be found. Congenital heart diseases continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems.

Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

Symptoms

 

Symptoms depend on the condition. Although congenital heart disease is present at birth, the symptoms may not appear right away.

Defects such as coarctation of the aorta may not cause problems for years. Other problems, such as a small VSD , ASD, or PDA may never cause any problems.

 

Exams and Tests

 

Most congenital heart defects are found during a pregnancy ultrasound . When a defect is found, a pediatric heart doctor, surgeon, and other specialists can be there when the baby is delivered. Having medical care ready at the delivery can mean the difference between life and death for some babies.

Which tests are done on the baby depend on the defect and the symptoms.

 

Treatment

 

Which treatment is used, and how well the baby responds to it, depends on the condition. Many defects need to be followed carefully. Some will heal over time, while others will need to be treated.

Some congenital heart diseases can be treated with medicine alone. Others need to be treated with one or more heart surgeries.

 

Prevention

 

Women who are pregnant should get good prenatal care:

  • Avoid alcohol and illegal drugs during pregnancy.
  • Tell your health care provider that you are pregnant before taking any new medicines.
  • Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible exposure to rubella and get vaccinated right after delivery.
  • Pregnant women who have diabetes should try to get good control over their blood sugar level.

Certain genes may play a role in congenital heart disease. Many family members may be affected. Talk to your provider about genetic counseling and screening if you have a family history of cogenital heart disease.

 

 

Open References

References

Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM Jr, Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery . 19th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 59.

Webb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 62.

 
  • Heart, section through the middle

    Heart, section through the middle - illustration

    The interior of the heart is composed of valves, chambers, and associated vessels.

    Heart, section through the middle

    illustration

  • Heart, front view

    Heart, front view - illustration

    The external structures of the heart include the ventricles, atria, arteries and veins. Arteries carry blood away from the heart while veins carry blood into the heart. The vessels colored blue indicate the transport of blood with relatively low content of oxygen and high content of carbon dioxide. The vessels colored red indicate the transport of blood with relatively high content of oxygen and low content of carbon dioxide.

    Heart, front view

    illustration

  • Ultrasound, normal fetus - heartbeat

    Ultrasound, normal fetus - heartbeat - illustration

    This is a normal fetal ultrasound showing one pattern of the fetal heartbeat. Some ultrasound machines have the ability to focus on different areas of the heart and evaluate the heartbeat. This is useful in the early diagnosis of congenital heart abnormalities.

    Ultrasound, normal fetus - heartbeat

    illustration

  • Ultrasound, normal fetus - heartbeat

    Ultrasound, normal fetus - heartbeat - illustration

    This is an ultrasound showing a ventricular septal defect pattern of the fetal heartbeat. Some ultrasound machines have the ability to focus on different areas of the heart and evaluate the heartbeat. This is useful in the early diagnosis of congenital heart abnormalities.

    Ultrasound, normal fetus - heartbeat

    illustration

  • Patent ductus arteriosis (PDA) - series

    Patent ductus arteriosis (PDA) - series

    Presentation

    •  
    • Heart, section through the middle

      Heart, section through the middle - illustration

      The interior of the heart is composed of valves, chambers, and associated vessels.

      Heart, section through the middle

      illustration

    • Heart, front view

      Heart, front view - illustration

      The external structures of the heart include the ventricles, atria, arteries and veins. Arteries carry blood away from the heart while veins carry blood into the heart. The vessels colored blue indicate the transport of blood with relatively low content of oxygen and high content of carbon dioxide. The vessels colored red indicate the transport of blood with relatively high content of oxygen and low content of carbon dioxide.

      Heart, front view

      illustration

    • Ultrasound, normal fetus - heartbeat

      Ultrasound, normal fetus - heartbeat - illustration

      This is a normal fetal ultrasound showing one pattern of the fetal heartbeat. Some ultrasound machines have the ability to focus on different areas of the heart and evaluate the heartbeat. This is useful in the early diagnosis of congenital heart abnormalities.

      Ultrasound, normal fetus - heartbeat

      illustration

    • Ultrasound, normal fetus - heartbeat

      Ultrasound, normal fetus - heartbeat - illustration

      This is an ultrasound showing a ventricular septal defect pattern of the fetal heartbeat. Some ultrasound machines have the ability to focus on different areas of the heart and evaluate the heartbeat. This is useful in the early diagnosis of congenital heart abnormalities.

      Ultrasound, normal fetus - heartbeat

      illustration

    •   Patent ductus arteriosis (PDA) - series

      Patent ductus arteriosis (PDA) - series

      Presentation

      •  

    A Closer Look

     

    Talking to your MD

     

      Self Care

       

        Tests for Congenital heart disease

         
         

        Review Date: 10/22/2015

        Reviewed By: Larry A. Weinrauch, MD, Assistant Professor of Medicine, Harvard Medical School, Cardiovascular Disease and Clinical Outcomes Research, Watertown, MA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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