Barth Syndrome

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.