Saving lives through education, advances in treatment and finding a cure for Barth syndrome
How to diagnose Barth syndrome
Could you perhaps be missing a case of Barth syndrome?
There is no charge for testing UK patients as this is funded by NHS Specialised Services. Please make use of the free diagnostic test if the boy in question has ANY of the following symptoms.
- Left ventricular non-compaction
- Weak muscles
- Family history of a male pattern of cardiomyopathy where no genetic cause can be found
Especially if any of the above symptoms also coincide with either:
- Developmental delay
- Feeding and/or growth problems
Did you know?
- Barth syndrome can behave very differently between affected males
- 10% of affected boys and men always have normal blood neutrophil counts
- The level of 3-methylglutaconic acid can sometimes be normal in urine
- 3-5% of all young males with DCM may have Barth syndrome as the cause of their heart failure (This percentage may be even higher in those who are in heart failure at birth or develop it within the first year of life)
New testing method
Previously, definitive testing for Barth syndrome relied on sequencing of the responsible TAZ gene, but this is expensive and time-consuming. A more practical approach to testing is now possible since the development of a biochemical "cardiolipin test" which can be performed very reliably on only a small volume of blood. The test result is usually available within 1-2 weeks and this is a more straightforward test than DNA sequencing (although gene testing would usually still be performed as further confirmation in someone with a positive cardiolipin test). When done on blood samples sent by first class post, cardiolipin testing is a very reliable diagnostic test.
Routine blood testing: Cardiolipin Analysis
3 ml of whole blood collected into a K-EDTA (full blood count) tube is required for cardiolipin analysis. It is important that samples arrive in the laboratory within 24 hours of collection. We therefore recommend that these are taken on Monday to Thursday and posted by first class post to:
Ann Bowron or Janet Stone
Barth Syndrome Service
Department of Clinical Biochemistry
Bristol Royal Infirmary
Label the box 'Urgent clinical sample - for immediate delivery to the Biochemistry laboratory'.
Post mortem testing
If a patient is suspected to have died as a result of Barth syndrome, cardiolipin analysis can be performed in cultured fibroblasts (skin cells). If fibroblasts are unavailable, please contact Ann Bowron to discuss details on 0117 342 2590 or by e-mail at ann.bowron@UHBristol.nhs.uk
The information on this page is taken from the NHS Barth Syndrome Service site – for further details please visit Barth Syndrome Service - Testing
Testing for Barth syndrome outside of the United Kingdom
Genetic testing is available in many different countries and we suggest you visit the following sites for details:
Cardiolipin tests (for a fee) are also available in The Netherlands where the test was developed with financial assistance and samples provided by BST and BSF.
For further information please contact Dr Kulik via e-mail firstname.lastname@example.org or phone (+31 0 20 566 2427)
Dr. W. Kulik (Mass Spectrometry/Metabolomics)
Clinical Biochemical Geneticist i.t.
Academic Medical Centre, University of Amsterdam
Lab. Genetic Metabolic Diseases, F0-224
P.O. Box 22700 1100 DE
Do you suspect your patient might have Barth syndrome?