Abstract
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.
Highlights
The 1p36 deletion syndrome is the most common terminal deletion syndrome in humans, which occurs in 1 in 5,000 live births [1]
This paper presents two cases of patients with 1p36 deletion and left-ventricular non-compaction (LVNC) cardiomyopathy
A 5-month-old, 6.1-kg girl with 1p36 deletion syndrome with acute-on-chronic left ventricular failure due to LVNC cardiomyopathy was admitted to our institution for worsening heart failure and possible need for cardiac transplantation
Summary
The 1p36 deletion syndrome is the most common terminal deletion syndrome in humans, which occurs in 1 in 5,000 live births [1]. A 5-month-old, 6.1-kg girl with 1p36 deletion syndrome with acute-on-chronic left ventricular failure due to LVNC cardiomyopathy was admitted to our institution for worsening heart failure and possible need for cardiac transplantation. She had a history of hypotonia, global developmental. A suitable organ donor became available 7 days after BHE implantation, and the patient was successfully bridged to orthotopic heart transplantation As of this writing, the patient is 2 years 5 months after heart transplantation and has done well from cardiac perspective, with normal ventricular function and no rejection history (Figure 4). The patient is 1 year 8 months after cardiac transplantation and has done well from a cardiac perspective with normal function and no history of rejection (Figure 4)
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