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Congenital Heart Disease, Explained: What You Need To Know

Congenital Heart Disease, Explained: What You Need To Know



What is Congenital Heart Disease?

The heart is one of the most important organs of the body. It is responsible for transporting blood filled with oxygen through the body. However, some people are born with defects to this organ, which impairs its ability to function properly. The general term used to describe such abnormalities is congenital heart disease.

According to the World Health Organization, congenital heart diseases are among the most common types of birth defects, along with neural tube defects and Down syndrome.

The US Center for Disease Control (CDC), meanwhile, explains that infants’ conditions vary from mild to severe. Mild cases may involve a small hole in the heart, while severe cases involve parts of the organ completely missing or not properly formed.

Signs and Symptoms

The signs and symptoms of congenital heart disease in adults are:

  • Abnormal heart rhythms (arrhythmias)
  • Cyanosis, or bluish discoloration of the skin, lips and fingernails
  • Shortness of breath
  • Easily exhausted by physical activity
  • Edema, or swelling of certain organs or body tissue

What is Congenital Heart Disease

While congenital heart disease in infants and children manifests in symptoms, such as:

  • Cyanosis, bluish discoloration of the skin, fingernails, and lips
  • Poor appetite or inability to gain weight
  • Rapid breathing
  • Lung infections

Causes and Risk Factors

The exact causes of these defects have yet to be determined, but the following as factors that can heighten risk for an infant to develop this condition:

Family History

Families with a history of congenital heart disease may pass these on to their children. This may be caused by a genetic condition. Those born with Down syndrome may also have heart conditions.

German measles during pregnancy

German measles contracted during pregnancy can cause serious defects known as congenital rubella syndrome (CRS) in babies. This condition can cause hearing loss, eye problems, heart problems, and other complications.

Certain medication during pregnancy

Pregnant women’s use of medications such as isotretinoin and lithium for treating acne and bipolar disorders may cause heart defects and other abnormalities in her baby (fetus).

Alcohol consumption and smoking

Drinking alcohol and smoking while pregnant also increases the risk of congenital heart and other birth defects.


The WHO noted that screenings at preconception, during pregnancy and after birth are all critical to check possible birth defects and conditions.

Preconception screening is important because it can help identify factors that can contribute to the infant having such a defect.

Checks during the pregnancy such as ultrasounds can check a fetus’ development for possible structural abnormalities to the heart.

Neonatal Screening

Neonatal screenings, meanwhile, help identify common signs or symptoms of congenital heart diseases in babies. Examples of these are bluish nails and lips, difficulty in breathing and sluggishness.

Early detection is important so life-saving treatments can be immediately done. However, some of these abnormalities are only detected during childhood or even, adulthood.

Adults who were treated for congenital heart disease during childhood and experience symptoms are advised to check with a doctor. Examples of symptoms are: abnormal heart rhythms, bluish tint to the skin, lips and fingernails, shortness of breath, fatigue upon exertion, and swelling of body tissue or organs.


Once a congenital heart disease is detected, the medical intervention will depend on the type and severity.

Surgery or Cardiac Catheterization

Some conditions might require multiple surgeries, while others can be resolved through a procedure called cardiac catheterization. In this procedure, a long tube is threaded through the blood vessels into the heart.

This enables a doctor to check the heart and implement the needed corrections. However, some congenital heart diseases may not be fully treated with the best outcome and improvement to the heart’s function.

Some people who were successfully treated for congenital heart problems experience a resurfacing of issues as complications from childhood surgeries, such scar tissue in the organs.


Those with congenital heart disease may face additional challenges in terms of mental and physical development.

It attributes this to the poor oxygen supply to the body that affects brain development. This can then lead to:

  • impaired memory
  • speech difficulties
  • low attention span
  • poor impulse control

People born with such conditions also face increased risk of:

  • endocarditis, a life threatening infection of the heart
  • pulmonary hypertension
  • irregular heartbeats that require them to wear pacemakers
  • blood clots and other heart conditions


The experience of those with congenital heart disease varies depending on the severity of their condition. Those with minor ones are able to live normal lives after treatments, but others with more serious health may require constant monitoring by cardiologists into adulthood.

The CDC further advises parents of children with congenital heart diseases to work closely with doctors so they can make the best choices for their well-being.

Regular consultations allow parents to compile a child’s medical history such as procedures done and medications taken that can be used to guide subsequent doctors who will take on providing healthcare for the patient.

Key Takeaways

A study published on the US National Library of Medicine noted that treatments and the care needed for congenital heart disease are relatively expensive. It recommends that government health agencies to focus on prevention focused on educating women on how to avoid risks.

While there is no guarantee congenital heart diseases can be prevented, managing risks through healthier lifestyle choices.

Advances in medicine have enabled those born with congenital heart disease to live long and healthy lives. But a person with such a condition might need care throughout his life. Signs and symptoms might still manifest in adults despite getting treatment during childhood.


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Hello Health Group does not provide medical advice, diagnosis or treatment.

Living with a Congenital Heart Defect https://www.cdc.gov/ncbddd/heartdefects/living.html Accessed 6 June 2020 Congenital Heart Disease in Adults https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456 Accessed 6 June 2020 Congenital Anomalies https://www.who.int/news-room/fact-sheets/detail/congenital-anomalies Accessed 6 June 2020 Prevention: Congenital Heart Disease https://www.nhs.uk/conditions/congenital-heart-disease/prevention/ Accessed 6 June 2020
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Written by Mary Meysil Carreon Updated Mar 24, 2021
Medically reviewed by Mike Kenneth Go Doratan, MD