Genetics of inherited cardiocutaneous syndromes: A review

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

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

5 Citations (Scopus)

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.

Original languageEnglish
Article numbere000442
JournalOpen Heart
Volume3
Issue number2
DOIs
Publication statusPublished - 2016
Externally publishedYes

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