Genetics of inherited cardiocutaneous syndromes: A review

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dc.contributor.authorBardawil, Tara
dc.contributor.authorKhalil, Samar
dc.contributor.authorBergqvist, Christina
dc.contributor.authorAbbas, Ossama M.
dc.contributor.authorKibbi, Abdul Ghani M.
dc.contributor.authorBitar, Fadi Fouad
dc.contributor.authorNemer, Georges M.
dc.contributor.authorKurban, Mazen S.
dc.contributor.departmentDermatology
dc.contributor.departmentBiochemistry and Molecular Genetics
dc.contributor.departmentPediatrics and Adolescent Medicine
dc.contributor.facultyFaculty of Medicine (FM)
dc.contributor.institutionAmerican University of Beirut
dc.date.accessioned2025-01-24T11:40:43Z
dc.date.available2025-01-24T11:40:43Z
dc.date.issued2016
dc.description.abstractThe 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. © 2016, BMJ Publishing Group. All rights reserved.
dc.identifier.doihttps://doi.org/10.1136/openhrt-2016-000442
dc.identifier.eid2-s2.0-85016118229
dc.identifier.urihttp://hdl.handle.net/10938/29541
dc.language.isoen
dc.publisherBMJ Publishing Group
dc.relation.ispartofOpen Heart
dc.sourceScopus
dc.subjectCyclic amp dependent protein kinase
dc.subjectDesmoplakin
dc.subjectDesmosine
dc.subjectPlakoglobin
dc.subjectPlakophilin
dc.subjectPlectin
dc.subjectAdrenal hyperplasia
dc.subjectBraf gene
dc.subjectCardiac muscle cell
dc.subjectCardiofaciocutaneous syndrome
dc.subjectCarney complex
dc.subjectCnc1 gene
dc.subjectCnc2 gene
dc.subjectCostello syndrome
dc.subjectCutis laxa
dc.subjectDesmosome
dc.subjectDisease severity
dc.subjectDown syndrome
dc.subjectEctoderm
dc.subjectEhlers danlos syndrome
dc.subjectEllis van creveld syndrome
dc.subjectEnvironmental factor
dc.subjectEpidermis
dc.subjectEpidermolysis bullosa
dc.subjectGene
dc.subjectGene mutation
dc.subjectGenetic disorder
dc.subjectHallux valgus
dc.subjectHeart death
dc.subjectHeart disease
dc.subjectHeart right ventricle dysplasia
dc.subjectHepatosplenomegaly
dc.subjectHras gene
dc.subjectHuman
dc.subjectHyperpigmentation
dc.subjectHypogonadism
dc.subjectLeopard syndrome
dc.subjectMarfan syndrome
dc.subjectMek 1 gene
dc.subjectMek 2 gene
dc.subjectMelanocyte
dc.subjectMesoderm
dc.subjectNoonan syndrome
dc.subjectPerception deafness
dc.subjectPhenotype
dc.subjectPrkaca gene
dc.subjectPrkacb gene
dc.subjectPrkar1a gene
dc.subjectProgeria
dc.subjectPseudoxanthoma elasticum
dc.subjectRefsum disease
dc.subjectReview
dc.subjectSudden cardiac death
dc.subjectTurner syndrome
dc.subjectWilliams beuren syndrome
dc.titleGenetics of inherited cardiocutaneous syndromes: A review
dc.typeReview

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