Genetics of inherited cardiocutaneous syndromes: A review
Loading...
Files
Date
Journal Title
Journal ISSN
Volume Title
Publisher
BMJ Publishing Group
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. © 2016, BMJ Publishing Group. All rights reserved.
Description
Keywords
Cyclic amp dependent protein kinase, Desmoplakin, Desmosine, Plakoglobin, Plakophilin, Plectin, Adrenal hyperplasia, Braf gene, Cardiac muscle cell, Cardiofaciocutaneous syndrome, Carney complex, Cnc1 gene, Cnc2 gene, Costello syndrome, Cutis laxa, Desmosome, Disease severity, Down syndrome, Ectoderm, Ehlers danlos syndrome, Ellis van creveld syndrome, Environmental factor, Epidermis, Epidermolysis bullosa, Gene, Gene mutation, Genetic disorder, Hallux valgus, Heart death, Heart disease, Heart right ventricle dysplasia, Hepatosplenomegaly, Hras gene, Human, Hyperpigmentation, Hypogonadism, Leopard syndrome, Marfan syndrome, Mek 1 gene, Mek 2 gene, Melanocyte, Mesoderm, Noonan syndrome, Perception deafness, Phenotype, Prkaca gene, Prkacb gene, Prkar1a gene, Progeria, Pseudoxanthoma elasticum, Refsum disease, Review, Sudden cardiac death, Turner syndrome, Williams beuren syndrome