Barth Syndrome

Also known as

  • BTHS

Barth syndrome affects the heart, muscles, growth and the immune system. It affects boys and men.

Condition details

Babies born with Barth syndrome may have low blood sugar, lactic acidosis and failure to thrive. Feeding problems are common. Heart failure is another common symptom, resulting in a weak, enlarged heart which requires medication and sometimes transplant. Boys can also have a reduced resistance to infection. Weak muscles and increased fatigue are other symptoms.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • Not all these symptoms may be present: Low blood sugar
  • poor feeding
  • vomiting
  • heart problems including a risk of cardiac arrest or rhythm problems
  • repeated infections and fevers
  • nappy rash and thrush
  • delayed milestones
  • weak muscles
  • tiredness
  • Hypoglycaemia
  • failure to thrive
  • vomiting and or diarrhoea
  • dilated cardiomyopathy with risk of arrhythmia
  • neutropenia
  • hypotonia
  • fatigue
Toddler
Lay terms Clinical terms
  • Not all these symptoms may be present: Poor feeding
  • vomiting
  • heart problems including a risk of cardiac arrest or rhythm problems
  • repeated infections and fevers
  • nappy rash and thrush
  • delayed milestones
  • weak muscles
  • tiredness
  • Hypoglycaemia
  • failure to thrive
  • delayed milestones
  • vomiting and or diarrhoea
  • dilated cardiomyopathy with risk of arrhythmia
  • neutropenia
  • hypotonia
  • fatigue
Child 4-10
Lay terms Clinical terms
  • Often described as the 'honeymoon phase'
  • the age from 4 - 5 yrs old until 11-12 yrs is often a stable period.
  • Often a clinically stable period
Child 10-18
Lay terms Clinical terms
  • Puberty is usually delayed with growth happening around 16 years of age and continuing into early twenties. This can be a medically difficult time. Heart function can swing from normal to abnormal with little warning.
  • Delayed puberty with hyper growth in late teen years. Increased risk of arrhythmia
  • undulating cardiac phenotype with dramatic changes in cardiac function
Adult
Lay terms Clinical terms
  • Once adulthood is reached
  • things may settle down and men with Barth syndrome may go onto working and having families etc depending on their individual health. Ongoing vigilance is required with regular heart check ups and medications to prevent infections.
  • Regular follow up required to assess for risk of arrhythmia
  • cardiac function
  • neutropenia and excessive fatigue.

Affected genes identified to date

  • G4.5

Inheritance patterns

Is X-linked

Are carriers affected?

No

How many are affected?

Around 200 worldwide

Support groups and organisations

Mrs Michaela Damin
Barth Syndrome Trust
Tel
Facebook

Known experts

Professor Colin Steward
Field of interestNeutropenia
NHS Specialised Barth Syndrome Service Lead Clinician
Bristol Royal Hospital for Children
Upper Maudlin Street
Bristol
BS2 8BJ
UK
Tel 0117 342 8102
Facebook
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