Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

Area of Science:

• Cardiology
• Immunology
• Genetics

Background:

• Barth syndrome is a rare genetic condition affecting the X chromosome, primarily impacting males.
• Cardiac dysfunction is a common and severe manifestation of Barth syndrome, often necessitating heart transplantation.
• Limited data exists on long-term outcomes of heart transplantation in Barth syndrome patients.

Observation:

• This study reports on four patients with Barth syndrome who underwent orthotopic heart transplantation.
• Follow-up periods ranged from 1 to 14.7 years post-transplantation.
• One patient experienced a severe infection during the follow-up period.

Findings:

• All four patients with Barth syndrome achieved successful orthotopic heart transplantation.
• Post-transplant renal dysfunction and coronary allograft vasculopathy were not accelerated compared to non-Barth syndrome recipients.
• Despite withholding purine synthesis inhibitors, these patients did not exhibit an increased rate of rejection.

Implications:

• Orthotopic heart transplantation appears to be a safe and effective treatment for severe cardiac manifestations of Barth syndrome.
• Barth syndrome patients may not require specific immunosuppression protocols beyond standard care to prevent rejection.
• Further research is warranted to confirm these findings in a larger cohort and elucidate the underlying mechanisms.