Barth Syndrome

What is Barth Syndrome?

Barth syndrome is a rare and severe genetic condition that typically occurs in people assigned male at birth (AMAB). It affects many areas of the body, including the:

• Bone marrow.
• Heart.
• Immune system.
• Muscles.

Can females get Barth syndrome?

It is highly unlikely for people assigned female at birth (AFAB) to get Barth syndrome. Usually, they only carry the gene mutation responsible for this condition. As carriers they do not experience Barth syndrome but can pass it on to their children.

How common is Barth syndrome?

The condition occurs in approximately 1 in 300,000 births.

What causes Barth syndrome?

A mutation in the tafazzin (TAZ) gene causes Barth syndrome. This gene is part of the X chromosome, which affects how the body grows. The TAZ gene guides protein development in the energy-producing part of cells (mitochondria). These cells also have a role in bone development.

TAZ mutations cause the protein to become ineffective, so there’s less fuel for the mitochondria. As a result, tissue with high energy demands — like the heart, muscles and immune system — cannot function as it should.

What are the symptoms of Barth syndrome?

Symptoms vary and may include:

• Unusually high levels of an organic acid in the urine (3-methylglutaconicaciduria).
• Enlargement of the heart’s lower chambers (dilated cardiomyopathy).
• Frequent bacterial infections.
• Growth delays.
• Heart muscle weakness (cardiomyopathy).
• Low white blood cell counts (neutropenia).
• Prominent cheeks.
• Reduced muscle tone (hypotonia).
• Weakness in the muscles that help you move (skeletal myopathy).

How quickly do symptoms occur?

Symptoms are often present at birth. Sometimes they develop months after a child is born.

What are the potential complications of Barth syndrome?

Children with this condition are at risk for:

• Feeding problems and malnutrition.
• Frequent diarrhea.
• Headaches and body aches.
• Low blood sugar (hypoglycemia).
• Osteoporosis.
• Unusual tiredness (fatigue).
• Mild learning disabilities.
• Canker sores.

How is Barth syndrome diagnosed?

Catching the early signs of Barth syndrome enables your child to start treatments sooner. This slows the progression of symptoms and may prevent complications.

An accurate diagnosis requires many types of testing, such as:

• Biopsy of heart or muscle tissue to check for mitochondria defects and other abnormalities.
• Echocardiogram to check heart functioning.
• Genetic testing to confirm gene mutations responsible for Barth syndrome.
• Urine tests to detect high organic acid levels and low levels of immune system cells (neutrophils).

How will I know whether my child needs testing for Barth syndrome?

Testing is recommended if your child has growth delays and cardiomyopathy symptoms, and healthcare providers cannot pinpoint the source. Cardiomyopathy symptoms include dizziness, irregular heart beat (arrhythmia) and heart murmur.

What treatments are available for Barth syndrome?

There is no cure for Barth syndrome. Care focuses on preventing and treating complications. Your child may need:

• Antibiotics for infections.
• Drugs to stimulate white cell production.
• Medications to control heart issues, including ACE inhibitors, diuretics and beta-blockers.
• Physical and occupational therapy to cope with physical development challenges.
• Heart transplant in cases of severe heart failure.

What else is important to know about Barth syndrome treatment?

Your child will need regular checkups to track their response to treatment. Over time their care needs will change. These frequent checkups make it easier to change therapies before complications occur.

Checkups will also include lab tests to check immune system activity. Your child may need antibiotics to prevent an infection if neutrophil levels are low.

Can Barth syndrome be prevented?

Barth syndrome is a genetic condition. Since it’s inherited, a child with Barth syndrome has it for life.

If you are thinking of starting or expanding your family and there is a family history of Barth syndrome, genetic testing can help. Testing lets you and your partner know whether you carry TAZ gene mutations. If you do, a genetic counselor can explain the likelihood of having a child with Barth syndrome.

What is the life expectancy for people with Barth syndrome?

In the past, heart issues lead to a reduced life expectancy. Children would not survive infancy. With early diagnosis and treatment, patients are living longer. Many people live into their late 40s and hopefully beyond as science continues to advance our knowledge and suggest new treatments.

What’s it like living with Barth syndrome?

Barth syndrome may affect your child’s growth. Many children are small at birth and end up with short stature as adults.

Muscle weakness and other issues can cause delays in physical development. This includes difficulty crawling, walking or maintaining balance. Your child may fatigue tire more easily, especially after physical activity.

Barth syndrome typically does not affect intelligence. But your child may experience challenges with math or problem-solving skills.

How can I help my child manage heart issues associated with Barth syndrome?

Living a healthy lifestyle can ease some of the strain on your child’s heart. They should eat a healthy diet and limit fluid consumption. Light physical activity is also helpful. But make sure your child has plenty of time to rest afterward.

A note from Cleveland Clinic

Barth syndrome is a genetic disease affecting the heart, immune system, muscles and more. It typically affects boys. Symptoms occur at birth or shortly afterward. Children with Barth syndrome usually have a shorter lifespan due to heart issues. There is no cure. But treatments can lower the risk of complications and maximize quality of life.