Congenital Heart Defects: Recognizing Conditions in Children

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Defining Congenital Defects

Children who are born with a defective heart structure are at risk for developing congenital heart failure and related complications if the specific abnormalities are not corrected. Resulting from improper formation of the fetal heart, congenital heart defects can manifest in a number of ways. The causes, signs and symptoms, and treatment options associated with this type of congenital disorder vary depending on the exact nature of the heart defect. Several heart disorders that affect children from birth are described in close detail as follows.

Septal Defects

An atrial septal defect occurs when a hole is present in the atrial septum (muscle located between the heart’s upper chambers).

Causes: Atrial septal defects may be caused by genetic predispositions, maternal use of drugs and alcohol during pregnancy, maternal diseases such as diabetes or a combination of the above.

Symptoms: This condition is typically asymptomatic until middle age, when heart arrhythmias, difficulty in breathing, fatigue or strokes may occur.

Treatment: This type of defect can be corrected through the use of either non-surgical closure devices or through surgical closure.

A ventricular septal defect is a congenital condition in which a hole forms in the ventricular septum (muscle wall between the lower chambers of the heart).

Causes: Though causes are typically unclear, genetic conditions sometimes contribute to ventricular septal defects.

Symptoms: Symptoms include a prominent heart murmur, elevated blood pressure, shortness of breath and arrhythmias.

Treatment: Minor ventricular septal defects in children are usually monitored until they correct themselves (within the first decade of life). Significant defects may require corrective surgery in adulthood.


Tricuspid atresia develops in children when the tricuspid valve of the heart, normally located between the right-side chambers, is missing. Complications of this condition include congestive heart failure, low oxygen levels and heart murmur.

Causes: Potential causes of tricuspid atresia include genetic factors and conditions such as Down Syndrome. Most cases stem from unknown causes.

Symptoms: Common symptoms include weakness, fatigue, blue-colored skin and breathing difficulties.

Treatment: Children with this condition are typically treated with prostaglandin medication, antibiotics and surgical procedures such as shunting. Many older children receive the Fontan procedure, which creates new pathways for blood travel within the heart.

Pulmonary atresia is a condition in which the pulmonary valve in the heart does not open properly to allow sufficient blood flow from the right ventricle and the pulmonary artery. As a result, babies with pulmonary atresia do not receive adequate amounts of oxygen.

Causes: Most causes are unclear, though chromosomal or environmental factors play a role in some cases of pulmonary atresia.

Symptoms: Common symptoms include blue-colored and clammy skin, shallow and rapid breathing, and lethargy in newborns.

Treatment: Options for treatment vary depending on the severity of the defect and may involve medication, balloon insertion in the pulmonary valve or cardiac surgical procedures.

Aortic Stenosis

Aortic stenosis as a congenital defect occurs when a child is born with a narrow or deformed aortic valve. This condition, which causes obstructed blood flow, must be corrected so that cardiac problems do not develop later in life.

Causes: Congenital aortic stenosis does not typically have a known cause.

Symptoms: Most children are asymptomatic, though some have heart murmurs and, in severe cases, heart failure shortly after birth.

Treatment: Treatment options for aortic stenosis may involve medication, balloon valvotomy or surgical procedures such as aortic valve replacement and valvuloplasty.

Hypoplastic Left Heart Syndrome

Hypoplastic left heart syndrome occurs when the left ventricle, mitral valves and aortic valves are abnormally small or deformed. When the left side of a baby’s heart cannot function properly to pump blood, surgical procedures are necessary in order to prevent death.

Causes: While most cases have no known causes or risk factors, a fetus is at increased risk for developing this syndrome when a sibling has the condition.

Symptoms: Symptoms are apparent following birth and include drowsiness, fast breathing, poor appetite, cold extremities and gray-blue skin tone.

Treatment: Babies with hypoplastic left heart syndrome must either undergo three separate surgical procedures between the ages of two weeks and three years of age or receive a heart transplant.

Additional Information

Many children with congenital heart defects have a good long-term prognosis if the condition is diagnosed and treated as early as possible following birth. Depending on severity and effectiveness of treatment, cardiac anomalies such as those detailed above sometimes require a child to take medications or undergo additional procedures throughout life. For additional information on these and other congenital defects of the heart, contact a pediatric cardiologist.