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Health library/Barth syndrome

Rare heart and muscle disorders / RARE CONDITION

Barth syndrome

Also known as: 3 methylglutaconic aciduria, type II, 3-methylglutaconic aciduria type 2, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, DNAJC19 defect, MGA type 2

Barth syndrome mainly affects males and can weaken heart and skeletal muscle. Low neutrophil counts can also increase vulnerability to infection.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Heart dysfunction
  • Muscle weakness
  • Poor growth
  • Repeated infections

Understanding care

Clinical care may include cardiology, blood-count and developmental assessment with an individualized care plan. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Breathing difficulty, chest pain, fainting or rapid deterioration requires emergency care. Worsening stamina, feeding or infection concerns needs prompt specialist assessment.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

A child and a caring grown-up reading a picture book together

LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Keep reading

Barth syndrome — First AID health library