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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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Autores principales: Jang, Subin, Taber, Allison, Bateman, Michael G., Steiner, Marie E., Ameduri, Rebecca K., Griselli, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215124/
https://www.ncbi.nlm.nih.gov/pubmed/34164357
http://dx.doi.org/10.3389/fped.2021.653633
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author Jang, Subin
Taber, Allison
Bateman, Michael G.
Steiner, Marie E.
Ameduri, Rebecca K.
Griselli, Massimo
author_facet Jang, Subin
Taber, Allison
Bateman, Michael G.
Steiner, Marie E.
Ameduri, Rebecca K.
Griselli, Massimo
author_sort Jang, Subin
collection PubMed
description 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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spelling pubmed-82151242021-06-22 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report Jang, Subin Taber, Allison Bateman, Michael G. Steiner, Marie E. Ameduri, Rebecca K. Griselli, Massimo Front Pediatr Pediatrics 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. Frontiers Media S.A. 2021-06-07 /pmc/articles/PMC8215124/ /pubmed/34164357 http://dx.doi.org/10.3389/fped.2021.653633 Text en Copyright © 2021 Jang, Taber, Bateman, Steiner, Ameduri and Griselli. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Jang, Subin
Taber, Allison
Bateman, Michael G.
Steiner, Marie E.
Ameduri, Rebecca K.
Griselli, Massimo
1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title_full 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title_fullStr 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title_full_unstemmed 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title_short 1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy—Two Cases Report
title_sort 1p36 deletion syndrome and left ventricular non-compaction cardiomyopathy—two cases report
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215124/
https://www.ncbi.nlm.nih.gov/pubmed/34164357
http://dx.doi.org/10.3389/fped.2021.653633
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