Key result
Heart transplantation in two pediatric patients with 1p36 deletion syndrome and left ventricular non-compaction cardiomyopathy resulted in excellent outcomes with normal ventricular function and no rejection.
Why the study?
Does heart transplantation improve outcomes in pediatric patients with 1p36 deletion syndrome and LVNC cardiomyopathy?
Case Report (n=2)
No
Does heart transplantation improve outcomes in pediatric patients with 1p36 deletion syndrome and LVNC cardiomyopathy?
Heart transplantation is a viable and successful therapeutic option for severe left ventricular non-compaction cardiomyopathy in children with 1p36 deletion syndrome.
May support transplantation for severe LVNC in 1p36 deletion syndrome; leaves open need for larger studies.
1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and left ventricular non-compaction cardiomyopathy. They presented with severely depressed left ventricle function and underwent heart transplantation with excellent outcomes. Given the incidence of heart defects and cardiomyopathy in 1p36 deletion syndrome, it should be recommended that children with this genetic condition have screening for cardiac disease. These cases add to the current literature by demonstrating the potential therapeutic options for non-compaction in 1p36 deletion syndrome and showed the favorable outcomes.
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Jang et al. (2021) conducted a case report in 1p36 deletion syndrome and left ventricular non-compaction cardiomyopathy (n=2). Heart transplantation was evaluated on Post-transplant outcome (survival, ventricular function, rejection). Heart transplantation in two pediatric patients with 1p36 deletion syndrome and left ventricular non-compaction cardiomyopathy resulted in excellent outcomes with normal ventricular function and no rejection.
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