Congenital Heart Defects

Congenital heart defects are structural abnormalities in the heart or the great vessels that have been present since birth. They are the most common serious congenital structural anomaly – in Finland, approximately one in every hundred children is diagnosed with some degree of heart defect.

Most heart defects are mild and can be corrected or monitored. Many congenital heart defects are detected already in infancy, but some milder defects may only become apparent in adulthood.

What types of congenital heart defects are there?

Congenital heart defects can affect the heart walls, valves, or the course of the great vessels. The most common defects include:

  • Ventricular or atrial septal defects (VSD/ASD)
  • There is a hole in the heart’s septum, causing excess blood flow into the pulmonary circulation.
  • Valve defects
  • Developmental abnormalities of the valves may cause leakage or stenosis. For example, a bicuspid aortic valve is common in adults.
  • Abnormal vessel course or narrowing
  • For instance, aortic coarctation or transposition of the great arteries often require early surgical treatment.
  • Tetralogy of Fallot and other complex defects
  • These are rarer but often require multiple surgeries and long-term follow-up.

How are congenital heart defects diagnosed?

Many heart defects are detected during pregnancy or in newborns. Sometimes mild defects may remain asymptomatic for a long time and are only discovered in adolescence or adulthood.

Diagnostic tests include:

  • Cardiac auscultation (heart murmur)
  • Echocardiography (ECHO)
  • ECG and chest X‑ray
  • Cardiac MRI or catheterization when needed

Symptoms of congenital heart defects

Symptoms depend on the type and severity of the defect. In children, symptoms may include:

  • Shortness of breath or slow weight gain
  • Sweating during feeding
  • Heart murmurs
  • Bluish discoloration (cyanosis)

In adults whose heart defect has gone untreated or requires follow-up, symptoms may include:

  • Fatigue or shortness of breath on exertion
  • Palpitations or arrhythmias
  • Chest pain or fainting

Treatment and follow-up

Treatment of a congenital heart defect depends on the type and severity of the defect. Possible treatments include:

  • Monitoring – many mild defects do not require intervention but do need regular follow-up
  • Catheter-based treatment – some septal defects or narrowings can be corrected via cardiac catheterization
  • Surgery – more severe defects require surgical repair
  • Medication – used when necessary, for example for arrhythmias, blood pressure, or heart failure

Many heart defects treated in childhood require continued follow-up in adulthood, as repair does not always mean a completely normal heart.

Adult congenital heart disease (GUCH patients)

Today, most congenital heart defects are repaired in childhood, and more and more children with heart defects grow into adulthood. These patients are often referred to as GUCH patients (Grown-Up Congenital Heart Disease).

In adulthood, issues may include:

  • Valve leakage or scarring from previous surgeries
  • Arrhythmias
  • Heart failure

For this reason, adults who have had a congenital heart defect should remain under the care of a cardiologist throughout their lives.

When should you see a doctor?

A congenital heart defect may go unnoticed for years, but you should seek medical attention if:

  • You know you had a heart defect as a child but are no longer in follow-up
  • You experience unexplained shortness of breath or unusual fatigue during exertion
  • Your heart feels like it is skipping beats or the rhythm seems irregular
  • A child is found to have a heart murmur or there is suspicion of an abnormal heart structure

Have you lived with a congenital heart defect or do you suspect one?

At Sydänkeskus, we offer comprehensive evaluation and follow-up for adult patients as well.