Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome

Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She e...

Descripción completa

Detalles Bibliográficos
Autores principales: Vargiami, Euthymia, Ververi, Athina, Al-Mutawa, Hamda, Gioula, Georgia, Gerou, Spyridon, Rouvalis, Fotios, Kambouris, Marios, Zafeiriou, Dimitrios I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867054/
https://www.ncbi.nlm.nih.gov/pubmed/27239352
http://dx.doi.org/10.1155/2016/3056053
_version_ 1782432001280704512
author Vargiami, Euthymia
Ververi, Athina
Al-Mutawa, Hamda
Gioula, Georgia
Gerou, Spyridon
Rouvalis, Fotios
Kambouris, Marios
Zafeiriou, Dimitrios I.
author_facet Vargiami, Euthymia
Ververi, Athina
Al-Mutawa, Hamda
Gioula, Georgia
Gerou, Spyridon
Rouvalis, Fotios
Kambouris, Marios
Zafeiriou, Dimitrios I.
author_sort Vargiami, Euthymia
collection PubMed
description Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO.
format Online
Article
Text
id pubmed-4867054
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-48670542016-05-29 Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome Vargiami, Euthymia Ververi, Athina Al-Mutawa, Hamda Gioula, Georgia Gerou, Spyridon Rouvalis, Fotios Kambouris, Marios Zafeiriou, Dimitrios I. Case Rep Genet Case Report Kleefstra syndrome is characterized by hypotonia, developmental delay, dysmorphic features, congenital heart defects, and so forth. It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. She exhibits a rare and complex cardiopathy, encompassing multiple coronary artery microfistulas, VSD/ASD, and PFO. Hindawi Publishing Corporation 2016 2016-04-30 /pmc/articles/PMC4867054/ /pubmed/27239352 http://dx.doi.org/10.1155/2016/3056053 Text en Copyright © 2016 Euthymia Vargiami et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Vargiami, Euthymia
Ververi, Athina
Al-Mutawa, Hamda
Gioula, Georgia
Gerou, Spyridon
Rouvalis, Fotios
Kambouris, Marios
Zafeiriou, Dimitrios I.
Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title_full Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title_fullStr Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title_full_unstemmed Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title_short Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
title_sort multiple coronary artery microfistulas in a girl with kleefstra syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867054/
https://www.ncbi.nlm.nih.gov/pubmed/27239352
http://dx.doi.org/10.1155/2016/3056053
work_keys_str_mv AT vargiamieuthymia multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT ververiathina multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT almutawahamda multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT gioulageorgia multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT gerouspyridon multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT rouvalisfotios multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT kambourismarios multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome
AT zafeirioudimitriosi multiplecoronaryarterymicrofistulasinagirlwithkleefstrasyndrome

Ejemplares similares