1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report

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 underwen...

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Published inFrontiers in pediatrics Vol. 9
Main Authors Jang, Subin, Taber, Allison, Bateman, Michael G., Steiner, Marie E., Ameduri, Rebecca K., Griselli, Massimo
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 07.06.2021
Subjects
1p36 deletion syndrome
cardiomyopathy
case report
LVNC
non-compaction
Pediatrics
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Summary: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.
Bibliography:Reviewed by: Shakuntala Prabhu, Bai Jerbai Wadia Hospital for Children, India; Joseph Rossano, Children's Hospital of Philadelphia, United States; Seiko Ohno, National Cerebral and Cardiovascular Center, Japan
Edited by: Estela Azeka, University of São Paulo, Brazil
This article was submitted to Pediatric Cardiology, a section of the journal Frontiers in Pediatrics
ISSN:2296-2360
2296-2360
DOI:10.3389/fped.2021.653633