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Congenital Heart Diseases in Children

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Heart diseases are not just limited to adults. These diseases and disorders of the heart can strike and affect the health of neonates too. Heart diseases in newborn babies are called as congenital heart defects. The following article will provide some reliable information related to congenital heart diseases in children.

What are Congenital Heart Diseases?

The abnormalities in the heart and valves present at birth are called as congenital heart diseases. There are different types of congenital heart defects. Some cause obstruction of blood flow in the heart. In some cases, the blood flow follows a wrong path within the heart. Certain diseases are as simple as the hole in the septum. Whereas some kids are born with a complex and serious heart defect. Congenital heart disorders are one of the most common causes of deaths in children due to a birth defect.


The most common causes of congenital birth defect are genetic or environmental. 1 percent children born with congenital heart problems have genetics as the main cause. A faulty gene or chromosomes are the main reasons for heart conditions.

Environmental conditions that lead to heart conditions include:

  • Mother consuming excessive alcohol, drugs, smokes tobacco during pregnancy
  • Maternal infection like Rubella
  • A mother suffering from diabetes, SLE, phenylketonuria, etc.

Scientists and researchers are still looking for answers that will give a concrete answer to congenital heart defects.


Congenital heart defects tend to show very few symptoms at birth. These defects can even be missed during a physical check-up. In case of severe heart defects, some of the symptoms seen, especially in neonates include:

  • Poor blood circulation
  • Cyanosis (blue tinge on lips, skin, fingernails)
  • Rapid breathing
  • Heart murmur
  • The child may easily get tired, especially while feeding
  • Failure to thrive, that is, failure to gain weight
  • Older children may get tired easily after exercising, playing or any physical activity
  • Shortness of breath
  • Fluid buildup in feet, ankles, legs as well as lungs

Types of Congenital Diseases

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Congenital heart defects have been classified into different groups by the International Congenital Heart Surgery Nomenclature (2000). Let us have a look at the different types of congenital diseases according to this classification.

Septal Defects

The septal wall separates the left and right chambers of the heart. This prevents mixing of the oxygenated blood with the deoxygenated blood. Holes in the septum leads to mixing of the blood leading to septal defects. Conditions under this group include:

  • Atrial septal defect (ASD)
  • Ventricular septal defect (VSD)


In this condition, only one side can pump blood to the body and lungs due to underdevelopment of right ventricle or the left ventricle. It is a serious and rare condition and can lead to death of the child, if immediate heart surgery is not performed. Types of hypoplasia include:

  • Hypoplastic left heart syndrome
  • Hypoplastic right heart syndrome

Cyanotic Defects

Conditions that lead to bluish-gray coloration of the skin, lips and fingertips come under cyanotic defects. This occurs due to lack of oxygen in the body. Conditions under this group include:

  • Tricuspid atresia
  • Tetralogy of Fallot
  • Transposition of the great vessels
  • Persistent truncus arteriosus

Defects Causing Obstruction

Obstruction of blood flow can occur due to abnormal, narrow or blocked veins, arteries or valves. Narrowing or blockage can both lead to hypertension and enlargement of the heart. Some of the conditions in this group include:

  • Aortic stenosis
  • Coarctation of aorta
  • Pulmonic stenosis
  • Atresia
  • Regurgitation

Conditions Affecting the Great Vessels

Disorders of the great vessels or other vessels that are classified under congenital heart conditions include:

  • Patent ductus arteriosus (PDA)
  • Interrupted aortic arch (IAA)
  • Coarctation of the aorta (CoA)
  • Scimitar syndrome (SS)

Complex Conditions

Multiple conditions affecting the heart come under this group. These defects include:

  • Shone's syndrome
  • Pentalogy of Cantrell
  • Tetralogy of Fallot (ToF)

Other Defects

Other defects that affect the functioning of the heart include:

  • Bicuspid aortic valve
  • Dextrocardia
  • Double inlet left ventricle (DILV)
  • Double outlet right ventricle (DORV)
  • Ebstein's anomaly
  • Mitral stenosis
  • Persistent truncus arteriosus
  • Tricuspid atresia


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Congenital heart defects can be diagnosed during the second trimester of pregnancy. Routine abdominal or transvaginal ultrasound helps in diagnosis of heart problems in the fetus. Any doubts regarding the fetal heart, the doctor may suggest fetal echocardiography.

After birth, blue color of the skin is the main factor for diagnosis of heart diseases in newborn. Septal heart defects or obstruction in the heart are usually diagnosed after several months or years when the child starts showing symptoms , fatigue, fluid accumulations, breathlessness, etc.


It is seen not all congenital heart defects require treatment. These conditions like a septal hole may improve on its own. Many conditions are so small that they do not cause any long term effect. However, serious cases like tetralogy of Fallot requires medical care. These conditions may be treated with:

  • Cardiac Catheterization techniques
  • Open heart surgery
  • Medications that help improve the heart functioning
  • Heart transplantation

In most cases, these treatments help cure the child for life. However, some children require extra care. These kids may need lifelong followup and monitoring by a cardiologist. They will have to avoid rough play and strenuous activities. In some cases, extra precaution needs to be taken to prevent infections that can lead to infective endocarditis.

About 9 babies in 1000 births are born with congenital heart disease. Most of these conditions are not very severe and do not have a long term risk. These diseases become evident immediately after birth or within a few months. Poor weight gain, poor feeding habits and breathing problems are the main symptoms of congenital heart defects. Specialized care and treatment gives these children a chance to live life normally. However, complex conditions of the heart can cause developmental delay, missing out of major growth milestones and learning difficulties. Heart conditions can lead to emotional, physical and financial strain on the entire family. Thus, make sure you discuss all the possibilities of congenital heart defects with the doctor, if there is a family history of these conditions. Today, medical treatment helps majority of children with congenital heart defects live life normally.

Written by: Saptakee sengupta
Date last updated: February 02, 2015

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