Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion

KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor. ABSTRACT: Prenatal diagnosis of...

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Autores principales: Stabile, Mariano, Rispoli, Anna F., Capuozzo, Maurizio, Ferbo, Umberto, Stabile, Guglielmo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315447/
https://www.ncbi.nlm.nih.gov/pubmed/37405046
http://dx.doi.org/10.1002/ccr3.7602
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author Stabile, Mariano
Rispoli, Anna F.
Capuozzo, Maurizio
Ferbo, Umberto
Stabile, Guglielmo
author_facet Stabile, Mariano
Rispoli, Anna F.
Capuozzo, Maurizio
Ferbo, Umberto
Stabile, Guglielmo
author_sort Stabile, Mariano
collection PubMed
description KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor. ABSTRACT: Prenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed.
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spelling pubmed-103154472023-07-04 Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion Stabile, Mariano Rispoli, Anna F. Capuozzo, Maurizio Ferbo, Umberto Stabile, Guglielmo Clin Case Rep Case Report KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor. ABSTRACT: Prenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed. John Wiley and Sons Inc. 2023-07-02 /pmc/articles/PMC10315447/ /pubmed/37405046 http://dx.doi.org/10.1002/ccr3.7602 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Stabile, Mariano
Rispoli, Anna F.
Capuozzo, Maurizio
Ferbo, Umberto
Stabile, Guglielmo
Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title_full Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title_fullStr Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title_full_unstemmed Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title_short Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion
title_sort bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. critical points in family communication on 16p12.2 microdeletion
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315447/
https://www.ncbi.nlm.nih.gov/pubmed/37405046
http://dx.doi.org/10.1002/ccr3.7602
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