ICD10 code of Barth Syndrome and ICD9 code

Barth Syndrome is classified under ICD-10 code E88.89 (Other specified metabolic disorders) and was previously identified under ICD-9 code 277.89. Because it is a rare X-linked genetic disorder, precise diagnostic coding is essential for securing specialized care and insurance coverage for patients managing this complex condition.

What is the clinical significance of the Barth Syndrome diagnosis?

Barth Syndrome is a serious multisystem disorder primarily characterized by cardiomyopathy, neutropenia, skeletal muscle weakness, and growth delay. Because Barth Syndrome is rare—affecting approximately 1 in 300,000 to 400,000 individuals—standardized coding like ICD-10 E88.89 helps clinicians and researchers track health outcomes. At DiseaseMaps.org, we have seen 4 community members share their personal experiences with Barth Syndrome, highlighting the importance of accurate medical records in navigating specialized treatment pathways.

Is Barth Syndrome hereditary?

Yes, Barth Syndrome is an X-linked recessive disorder caused by mutations in the TAZ gene, which encodes the enzyme tafazzin. This genetic mechanism means that Barth Syndrome almost exclusively affects males. Genetic counseling is strongly recommended for families to understand the 50% inheritance risk for offspring of carrier mothers and to discuss reproductive options.

What are the primary diagnostic features?

Diagnosis of Barth Syndrome typically involves a combination of biochemical and genetic testing. Key indicators include:

• Elevated levels of monolysocardiolipin in blood spots or fibroblasts.


• Low levels of mature cardiolipin in cardiac or skeletal muscle tissue.


• Identification of a pathogenic mutation in the TAZ gene via molecular testing.


• Persistent or cyclic neutropenia (low white blood cell counts) observed in clinical blood panels.

Next steps

• Consult a pediatric cardiologist and a metabolic specialist to manage the multisystem impacts of Barth Syndrome.


• Join the DiseaseMaps.org community to connect with other families navigating this diagnosis.


• Register with the Barth Syndrome Foundation to access the latest clinical trial information and patient registries.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.

References

• NIH GARD: Barth Syndrome Overview (rarediseases.info.nih.gov)


• Orphanet: Barth Syndrome (orpha.net)


• OMIM: TAZ Gene and Barth Syndrome (omim.org)


• Barth Syndrome Foundation: Clinical resources and patient support (barthsyndrome.org)