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What is Barth syndrome?

Barth syndrome is metabolic disorder that affects the heart, muscles, immune system, and growth. It almost always occurs in boys.

Barth syndrome usually appears during infancy or early childhood, but the age of onset can vary greatly.

Children with Barth syndrome can develop serious heart problems including congestive heart failure, heart muscle weakness (cardiomyopathy), and serious arrhythmias. They can also have infection or sepsis.

Barth syndrome affects about 1 in every 300,000 to 400,000 babies born worldwide.

What are the signs and symptoms of Barth syndrome?

Signs and symptoms of Barth syndrome include:

  • skeletal muscle abnormalities
  • delayed gross motor skill development
  • weak muscle tone
  • frequent infections
  • failure to thrive in infants and other abnormalities in growth
  • exercise intolerance or lack of stamina
  • distinctive facial features in childhood, including a round face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes

What are the causes of Barth syndrome?

Barth syndrome is usually caused by an abnormal gene on the X chromosome, called the TAZ gene. Women with this mutation have a 50 percent chance of passing it along to their children. Boys who inherit the mutation will have Barth syndrome, while girls will be carriers of the gene.

If Barth syndrome runs in your family, genetic testing is recommended.

In some cases, a new mutation of the gene occurs randomly for unknown reasons.

How we care for Barth syndrome

At Boston Children’s Hospital, specialists in our Cardiomyopathy Program and Metabolism Program are experienced in diagnosing and treating children with Barth syndrome.

Barth Syndrome | Diagnosis & Treatments

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

Barth Syndrome | Programs & Services