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遗传性心脏皮肤综合征的遗传学:综述

Genetics of inherited cardiocutaneous syndromes: a review.

作者信息

Bardawil Tara, Khalil Samar, Bergqvist Christina, Abbas Ossama, Kibbi Abdul Ghani, Bitar Fadi, Nemer Georges, Kurban Mazen

机构信息

American University of Beirut , Beirut Lebanon.

Department of Dermatology , American University of Beirut , Beirut Lebanon.

出版信息

Open Heart. 2016 Nov 22;3(2):e000442. doi: 10.1136/openhrt-2016-000442. eCollection 2016.

DOI:10.1136/openhrt-2016-000442
PMID:27933191
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5133403/
Abstract

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.

摘要

人类的生命起源于一个单细胞,在某些因素的影响下,这个单细胞依次分裂成多个细胞,随后这些细胞开始发育并分化成不同的结构和器官。发育过程早期出现的改变可能导致胎儿在子宫内死亡。相反,后期的异常可能导致不同严重程度的结构和/或功能异常。心血管系统和皮肤有某些共同的发育和结构因素;因此,发现几种同时有心脏和皮肤表现的遗传性综合征也就不足为奇了。在此,我们将回顾皮肤和心脏发育过程中的重叠途径,以及由此产生的综合征。我们还将强调一些皮肤线索,这些线索可能有助于医生筛查和发现那些可能隐藏起来并导致心源性猝死的心脏异常情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/1e7e631715dd/openhrt2016000442f06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/c4b71b846884/openhrt2016000442f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/9f4e9cf989a6/openhrt2016000442f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/856da21dd61b/openhrt2016000442f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/d0ef32f73925/openhrt2016000442f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/80b9a49c8b33/openhrt2016000442f05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/1e7e631715dd/openhrt2016000442f06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/c4b71b846884/openhrt2016000442f01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/9f4e9cf989a6/openhrt2016000442f02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/856da21dd61b/openhrt2016000442f03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/d0ef32f73925/openhrt2016000442f04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/80b9a49c8b33/openhrt2016000442f05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c822/5133403/1e7e631715dd/openhrt2016000442f06.jpg

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