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Barth Syndrome

  • Barth syndrome is rare metabolic disorder that most often occurs in males. A child with Barth syndrome typically has these characteristics:

    Metabolism Program
    Boston Children's Hospital

    300 Longwood Avenue
    Boston MA 02115
    fax: 617-730-0466

  • What is Barth syndrome?

    Barth syndrome is a rare, but serious, metabolic disorder seen mostly in males. It typically appears during infancy or early childhood, but the age of onset can vary greatly.

    What are the signs and symptoms of Barth syndrome?

    Characteristics of Barth syndrome include:

    • heart muscle weakness (cardiomyopathy)
    • skeletal muscle abnormalities
    • low levels of white blood cells, causing a condition called neutropenia
    • slow development or weak muscle tone
    • increased levels of organic acids in the urine and blood
    • frequent bacterial infections, such as pneumonia

    What types of problems do children with Barth syndrome have?

    Barth syndrome can lead to:

    • congestive heart failure
    • risk of serious arrhythmia, including sudden death
    • serious bacterial infections
    • gross motor and/or fine motor delay
    • growth delay
    • exercise intolerance, lack of stamina
  • How is Barth syndrome diagnosed?

    If your doctor suspects that your child has Barth syndrome, she may perform medical tests, such as a urine analysis and complete blood count. If these tests indicate that your child has Barth syndrome, a diagnosis can be confirmed with DNA testing. Other tests, such as an echocardiogram, may be performed to determine the severity of your child’s condition.

    A diagnosis will be made based on results, combined with medical and family history.

    Pregnant women may also opt for prenatal DNA testing.

  • There is no cure or specific treatment for Barth syndrome. Treatment focuses on reducing symptoms and preventing complications, such as infections.

    • physical therapy
      • to help babies who have reduced muscle tone as a result of Barth syndrome
    • antibiotics
      • to treat bacterial infections
    • lifestyle changes
      • Your doctor may advise a low-salt diet, and that your child maintains a healthy weight.
    • heart medications
    • artificial pacemaker
    • heart transplant
      • In some severe cases, if your child's Barth syndrome leads to cardiomyopathy, he or she may require a transplant in order to prevent heart failure.
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