Barth syndrome

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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

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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.
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