Barth Syndrome | Diagnosis & Treatment

How is Barth syndrome diagnosed?

If your doctor suspects your child has Barth syndrome, he or she may perform urine or blood tests to check for signs of the condition.

If these tests indicate that your child may have Barth syndrome, a diagnosis can be confirmed with genetic testing. If your child's doctor suspects Barth syndrome, he or she will order an echocardiogram, to determine the severity of your child’s condition.

Barth syndrome can also be diagnosed prenatally through genetic testing.

What are the treatment options for Barth syndrome?

There is no cure or specific treatment for Barth syndrome. Treatment focuses on reducing symptoms and preventing complications. These treatments may include:

  • physical therapy to help babies with reduced muscle tone
  • early intervention
  • antibiotics to prevent or treat bacterial infections
  • medications for heart failure
  • placement of an implantable defibrillator, for some patients with arrhythmias
  • a heart transplant for some children with heart failure that has not responded to medicine