Syndrome de Barth : le reconnaître, le traiter. Recommandations pour la prise en charge

Barth syndrome associates cardiomyopathy, myopathy and neutropenia in boys. This genetic disease is inherited as an X-linked trait and is associated to mutations in the TAZ gene. The disease is extremely rare (incidence at birth in France: 1-3 cases). Here, we propose guidelines for diagnosis and medical management associating cardiological, metabolic and hematological expertise. We also propose the use of prophylaxis of infections by intravenous immunoglobulin during infancy as mortality in Barth syndrome mainly occurs in infants and is usually the consequence of acute heart failure at the time of apparently common viral infection.