Barth syndrome

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