7 Signs of an Undiagnosed Congenital Heart Defect

In rare cases, it can be overlooked in childhood
7 Signs of an Undiagnosed Congenital Heart Defect

There are many reasons for getting winded when you climb stairs or exercise. In rare cases, adults can potentially find the culprit is a congenital heart defect or an undiagnosed heart condition that developed before you were born.

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Experts estimate about one out of every 150 adults lives with congenital heart disease. Most received treatment when they were very young, often in infancy. But on rare occasions, people don’t find out they have a defect until much later in life.

This happens more among those who were born before hospitals began routine screening of blood oxygen levels in all newborns (using pulse oximetry). (This routine testing was endorsed by the American Academy of Pediatrics, American Hospital Association, and American College of Cardiology in the 2010’s though its use began about a decade earlier.)

Not surprisingly, finding and treating a heart defect can change your life.

What symptoms might signal a heart defect?

There are many congenital heart defects, but a couple are more likely overlooked in childhood, says cardiologist Joanna Ghobrial, MD. These include stenosis (a narrowing of a heart valve) and atrial septal defect (a hole in the heart’s wall).

There are symptoms that might alert you to an undiagnosed heart problem. These include:

  1. Shortness of breath
  2. Heart palpitations
  3. Fainting spells
  4. Abnormal heart rate
  5. Abdominal bloating
  6. Bloating or fluid in the lower legs that doesn’t resolve with elevation
  7. Blue fingertips or toes after exertion

Shortness of breath, particularly during exercise, is the most common indicator of a congenital heart problem, Dr. Ghobrial says.

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“For most people, tolerance gets better as you continue to exercise,” she says. “But if you have a congenital heart defect, it will just feel like you hit a brick wall about the same time every time.”

One woman discovered she had Ebstein’s anomaly (a valve on the right side of the heart doesn’t close properly) at age 75. She thought it was “normal” to become breathless after walking just a few feet because it had always been that way for her, Dr. Ghobrial says.

Many adults who discover a heart defect report they were always a little short of breath but just learned to compensate for it, she says.   

Early problems can reappear

Dr. Ghobrial says she often sees adults with problems that recur years after childhood treatments.

They may have had surgery and were told they were “fixed,” she says. But they may need future procedures — to replace old valves, for instance.

“This can be misinterpreted as a clean bill of health. They may think they are totally fine and don’t need to go back to see a doctor again,” she says. “But they have to continue to see specialists after the age of 18. This is extremely important.”

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How do doctors treat heart defects in adults?

Treatment options vary widely depending on the underlying condition, how long you have had it and what level of heart damage there is.

After an examination, your medical team will likely choose from among the following options:

  • Continue to monitor your progress (if there is no damage)
  • Prescribe medication to avoid issues such as arrhythmia
  • Replace or repair a heart valve using a minimally invasive catheter procedure
  • Repair damage through open heart surgery
  • Perform a heart transplant (if damage is severe)

Why consulting a specialist is best

Because congenital heart disease is often a complex condition, Dr. Ghobrial recommends consulting with a specialist who works with adults.

General practitioners may not feel comfortable evaluating a heart problem. They may even overlook a simple condition like a heart murmur, she says.

“Knowing when to intervene is a challenge for many doctors,” she says. “I would rather screen more patients. Even though we may find that most people have a benign murmur, we’re sure not to miss the really sick ones.”

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