Barth syndrome

Also known as: 3-methylglutaconic aciduria type 2, 3 methylglutaconic aciduria (type II), BTHS, cardioskeletal myopathy with neutropenia and abnormal mitochondria, DNAJC19 defect, MGA (type II), TAZ defect.

What is Barth syndrome?

Barth syndrome is one of a rare group of metabolic genetic disorders that often present with symptoms at birth or within the first few months of life characterized by the baby being smaller than normal (which may or may not last till adulthood), having an enlarged weakened heart, (dilated cardiomyopathy), weakness (skeletal myopathy) of muscles used for movement, and recurrent infections due to a low white blood cell count (neutropenia).

What causes Barth syndrome?

Barth syndrome is a genetic X-linked recessive inherited disorder that is almost exclusively found in males. Occasionally for unknown reasons a random new gene mutation causes the disorder.

What are the signs/symptoms of Barth syndrome?

Common signs and symptoms include:

  • distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin
  • heart muscle weakness which presents as heart failure and/or arrhythmias including sudden death
  • growth delay and failure to thrive as infants
  • poor muscle tone
  • difficulty with fine finger movements and walking
  • lack of stamina
  • frequent serious bacterial infections

What are Barth syndrome care options?

There is no cure or specific treatment for Barth syndrome. Treatment is focused on reducing symptoms and preventing complications. Your child will require evaluation by the multidisciplinary team at Nicklaus Children’s Hospital who will fully evaluate and discuss with you the all the particular treatments your child may require.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: September 09, 2020 11:28 AM

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