TY - JOUR
T1 - Genetics of inherited cardiocutaneous syndromes
T2 - A review
AU - Bardawil, Tara
AU - Khalil, Samar
AU - Bergqvist, Christina
AU - Abbas, Ossama
AU - Kibbi, Abdul Ghani
AU - Bitar, Fadi
AU - Nemer, Georges
AU - Kurban, Mazen
N1 - Publisher Copyright:
© 2016, BMJ Publishing Group. All rights reserved.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85016118229&partnerID=8YFLogxK
U2 - 10.1136/openhrt-2016-000442
DO - 10.1136/openhrt-2016-000442
M3 - Review article
AN - SCOPUS:85016118229
SN - 2053-3624
VL - 3
JO - Open Heart
JF - Open Heart
IS - 2
M1 - e000442
ER -