Rare X-linked disorder caused by tafazzin gene mutations affecting cardiolipin metabolism. Characterized by cardiomyopathy, neutropenia, skeletal myopathy, and growth delay. Primarily affects males.

• 1Cardiac imaging
• 2Complete blood count
• 3Cardiolipin analysis
• 4Genetic testing
• 5Metabolic testing
• 6Muscle biopsy

Significant improvement in survival with modern care. Cardiomyopathy often improves with age. Neutropenia may improve after childhood. Risk of sudden cardiac death highest in infancy. With proper management, many survive into adulthood. Cardiac transplant may be life-saving. Lifelong monitoring required.

• Genetic counseling
• Prenatal diagnosis
• Carrier testing
• Newborn screening (limited)