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Heart transplantation for Barth syndrome
S S Adwani1, B F Whitehead, P G Rees
1Cardiothoracic Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK.
Pediatric Cardiology
|March 1, 1997
Summary
Barth syndrome, a severe genetic disorder, often leads to early death in children. This report details a successful heart transplant in a patient with Barth syndrome, offering new hope.
Area of Science:
- Genetics and rare diseases
- Pediatric cardiology
- Immunology
Background:
- Barth syndrome is a rare X-linked recessive disorder.
- Key features include dilated cardiomyopathy, muscular hypotonia, and cyclical neutropenia.
- Infantile mortality is high due to septicemia and cardiac failure.