Barth syndrome

This code represents Barth syndrome, a rare X-linked genetic disorder characterized by dilated cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. It is caused by mutations in the TAZ gene, leading to impaired cardiolipin synthesis.

Use this code for patients diagnosed with confirmed Barth syndrome, typically identified through genetic testing or characteristic clinical features. Documentation should clearly indicate the diagnosis of Barth syndrome, often including details of cardiac, muscular, or hematological manifestations.

• Ensure genetic testing results or a definitive clinical diagnosis of Barth syndrome are present in the medical record.
• Do not confuse with other forms of cardiomyopathy or neutropenia; this code is specific to the syndromic presentation.
• Consider sequencing this code as a primary diagnosis when Barth syndrome is the main reason for the encounter, followed by codes for specific manifestations (e.g., dilated cardiomyopathy, neutropenia).