Barth Syndrome and Referral to Heart Transplantation: Single-Center Experience and Literature Review.
Juliana Roberta Motta Ragozzino, Adailson Wagner Siqueira, Nana Miura et al.
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Case in brief
This report discusses three pediatric patients with genetically confirmed Barth syndrome who were referred for heart transplantation evaluation. Despite presenting with severe cardiac involvement, their heart failure trajectories varied significantly. Some patients showed substantial recovery with optimized heart failure therapy, while others progressed to end-stage heart failure necessitating transplantation. The findings highlight the importance of individualized management strategies.
Diagnostic / clinical pearl
Clinicians should recognize the heterogeneous clinical course of Barth syndrome cardiomyopathy, which can lead to varying responses to treatment and different outcomes.
Why it matters
The case underscores the necessity for early referral to specialized pediatric heart transplant centers and the importance of individualized transplant listing based on clinical evolution rather than solely on ejection fraction.