Genetic Syndromes: Tests and Diagnosis

Diagnosing a heart condition

Because of the relationship between these genetic disorders and certain heart conditions, your doctor will monitor your child’s heart closely. If your doctor hears a heart murmur (an extra or abnormal sound to your child’s heartbeat) or discovers an abnormal blood pressure or pulse, he or she will do more tests to investigate.

Pediatric cardiologists at Children’s Hospital Colorado will likely perform further tests to identify if your child has a heart condition. Some common heart tests include:

  • Blood test
  • Chest x-ray
  • EKG
  • Holter and event monitors
  • ECHO

Helpful resources

If you want to learn more about genetically linked heart conditions, visit:

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