Barth syndrome

Symptoms

What are the main symptoms of Barth syndrome in young boys?

Young boys and all males with Barth syndrome are unique in their symptoms, but most commonly they have:

  • Heart problems, most commonly dilated cardiomyopathy, hypertrophic cardiomyopathy, or left ventricular noncompaction. These can progress or even change over time, and may cause trouble with heart function or rhythm.
  • Susceptibility to infections, which can be serious. Males with Barth syndrome may have frequent mouth infections, mouth ulcers, lung infections (pneumonia), or blood infections.
  • Growth problems, which can result in boys with Barth syndrome being underweight when compared to their peers without the condition. There are specific growth charts for children with Barth syndrome to help track their growth more accurately.
  • Muscle weakness, which can cause young children to be behind in achieving some milestones, such as sitting up and walking.
  • A distinct facial appearance, which can vary from child to child. Some boys with Barth syndrome may look very much like each other, even though they may not be related.
  • Laboratory tests may show high levels of 3-methylglutaconic acid (3-MGA) in urine or blood, as well as increased monolysocardiolipins (MLCL) and decreased cardiolipins (L4-CL).
References
  • Ferreira, C., Thompson, R., & Vernon, H. (2014, October 9). Barth syndrome. (R. Pagon, M. Adam, HH Ardinger, et al., Eds.) GeneReviews. Retrieved July 4, 2017 from https://www.ncbi.nlm.nih.gov/books/NBK247162/.
  • Roberts, A. et al. (2012, November). The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. American Journal of Medical Genetics. 158A(11), 2726-32.
  • Genetics Home Reference. Barth syndrome. Retrieved September 25, 2017 from https://ghr.nlm.nih.gov/condition/barth-syndrome.
Show More Content Like This

More Symptoms Content

What are the main symptoms of Barth syndrome in teenage boys?

What are the main symptoms of Barth syndrome?

What are the heart problems in Barth syndrome?

What are the immune system problems in Barth syndrome?

What are the main symptoms of Barth syndrome in teenage boys?

Teenage boys with Barth syndrome can be unique in their symptoms, but most commonly they have:

  • Heart problems, most commonly dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), or left ventricular noncompaction (LVNC). These can progress or even change over time, and may cause trouble with heart function or rhythm.
  • Susceptibility to infections, which can be serious. Teenage boys with Barth syndrome may have frequent mouth infections, mouth ulcers, lung infections (pneumonia), or blood infections.
  • A history of growth problems, as young boys with Barth syndrome may have been quite small for their age. However, teenagers may have a growth spurt after puberty and a bit of "catch-up" growth that is quite remarkable and noticeable later.
  • Muscle weakness, which can result in teenage boys needing foot and/or ankle braces (orthoses), walkers, or wheelchairs at some point. They may also have intolerance to exercise as well.
  • Certain distinctive facial characteristics, but these become less so as boys with Barth syndrome get older.
  • Laboratory tests may show high levels of 3-methylglutaconic acid (3-MGA) in urine or blood, as well as increased monolysocardiolipins (MLCL) and decreased cardiolipins (L4-CL).
References
What are the main symptoms of Barth syndrome?

Boys and men with Barth syndrome may experience the condition differently, but the common symptoms are:

  • Heart problems, most commonly dilated cardiomyopathy, hypertrophic cardiomyopathy, or left ventricular noncompaction. These can progress or even change over time, and may cause trouble with heart function or rhythm.
  • Susceptibility to infections, which can be serious. Boys with Barth syndrome may have frequent mouth infections, mouth ulcers, lung infections (pneumonia), or blood infections.
  • Growth problems, which can result in boys with Barth syndrome being underweight when compared to boys without the condition. There are specific growth charts for children with Barth syndrome to help track their growth more accurately.
  • Muscle weakness, which can cause young children to be behind in achieving some milestones, such as sitting up and walking.
  • A distinct facial appearance, which can vary from person to person. Some young boys with Barth syndrome may look very much like each other, even though they are not related. These facial characteristics can become less obvious over time.
  • Laboratory tests may show high levels of 3-methylglutaconic acid (3-MGA) in urine or blood, as well as increased monolysocardiolipins (MLCL) and decreased cardiolipins (L4-CL).
References
What are the heart problems in Barth syndrome?

Most commonly, the heart problems found in people with Barth syndrome are dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), or left ventricular noncompaction (LVNC). This can cause the heart muscle to become weak and not work properly. These can progress or even change over time, and may cause trouble with heart function or rhythm, causing congestive heart failure or even sudden death. Not everyone has all of these heart problems, or has them to the same extent.

References
What are the immune system problems in Barth syndrome?

An increased risk for infections is common in people with Barth syndrome and can be serious. Boys with Barth syndrome may have frequent mouth infections, mouth ulcers, lung infections (pneumonia), or blood infections. Not everyone has all of these symptoms, or has them to the same extent. Being extra careful about germs and maintaining daily hygiene is very important for people with Barth syndrome.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me