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Genetics of inherited cardiocutaneous syndromes: a review

The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development pr...

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Autores principales: Bardawil, Tara, Khalil, Samar, Bergqvist, Christina, Abbas, Ossama, Kibbi, Abdul Ghani, Bitar, Fadi, Nemer, Georges, Kurban, Mazen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133403/
https://www.ncbi.nlm.nih.gov/pubmed/27933191
http://dx.doi.org/10.1136/openhrt-2016-000442
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author Bardawil, Tara
Khalil, Samar
Bergqvist, Christina
Abbas, Ossama
Kibbi, Abdul Ghani
Bitar, Fadi
Nemer, Georges
Kurban, Mazen
author_facet Bardawil, Tara
Khalil, Samar
Bergqvist, Christina
Abbas, Ossama
Kibbi, Abdul Ghani
Bitar, Fadi
Nemer, Georges
Kurban, Mazen
author_sort Bardawil, Tara
collection PubMed
description The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development process may lead to fetal demise in utero. Conversely, abnormalities at later stages may result in structural and/or functional abnormalities of varying severities. The cardiovascular system and skin share certain developmental and structural factors; therefore, it is not surprising to find several inherited syndromes with both cardiac and skin manifestations. Here, we will review the overlapping pathways in the development of the skin and heart, as well as the resulting syndromes. We will also highlight several cutaneous clues that may help physicians screen and uncover cardiac anomalies that may be otherwise hidden and result in sudden cardiac death.
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spelling pubmed-51334032016-12-08 Genetics of inherited cardiocutaneous syndromes: a review Bardawil, Tara Khalil, Samar Bergqvist, Christina Abbas, Ossama Kibbi, Abdul Ghani Bitar, Fadi Nemer, Georges Kurban, Mazen Open Heart Special Populations The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development process may lead to fetal demise in utero. Conversely, abnormalities at later stages may result in structural and/or functional abnormalities of varying severities. The cardiovascular system and skin share certain developmental and structural factors; therefore, it is not surprising to find several inherited syndromes with both cardiac and skin manifestations. Here, we will review the overlapping pathways in the development of the skin and heart, as well as the resulting syndromes. We will also highlight several cutaneous clues that may help physicians screen and uncover cardiac anomalies that may be otherwise hidden and result in sudden cardiac death. BMJ Publishing Group 2016-11-22 /pmc/articles/PMC5133403/ /pubmed/27933191 http://dx.doi.org/10.1136/openhrt-2016-000442 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Special Populations
Bardawil, Tara
Khalil, Samar
Bergqvist, Christina
Abbas, Ossama
Kibbi, Abdul Ghani
Bitar, Fadi
Nemer, Georges
Kurban, Mazen
Genetics of inherited cardiocutaneous syndromes: a review
title Genetics of inherited cardiocutaneous syndromes: a review
title_full Genetics of inherited cardiocutaneous syndromes: a review
title_fullStr Genetics of inherited cardiocutaneous syndromes: a review
title_full_unstemmed Genetics of inherited cardiocutaneous syndromes: a review
title_short Genetics of inherited cardiocutaneous syndromes: a review
title_sort genetics of inherited cardiocutaneous syndromes: a review
topic Special Populations
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133403/
https://www.ncbi.nlm.nih.gov/pubmed/27933191
http://dx.doi.org/10.1136/openhrt-2016-000442
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