Genetics of hypertrophic cardiomyopathy: A review of current state.

Sabater Molina, María; Pérez Sánchez, Inmaculada; Gimeno, Juan Ramón; Hernández del Rincón, Juan Pedro

Publication:
Genetics of hypertrophic cardiomyopathy: A review of current state.

dc.contributor.author	Sabater Molina, María
dc.contributor.author	Pérez Sánchez, Inmaculada
dc.contributor.author	Gimeno, Juan Ramón
dc.contributor.author	Hernández del Rincón, Juan Pedro
dc.contributor.department	Ciencias Sociosanitarias
dc.date.accessioned	2024-02-12T12:03:30Z
dc.date.available	2024-02-12T12:03:30Z
dc.date.copyright	© 2017 John Wiley & Sons A/S.
dc.date.issued	2017-03-21
dc.description.abstract	Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in 1 of 8 sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants. Young patients with severe phenotype and other clinical features are included in proposed scores for prediction of high positive genetic result. The number of genes reported as disease-causing has increased in the last few years, in some cases without robust evidence. Currently available in silico tools are not always useful for differentiation between benign and deleterious variants. There is enough information on genotypephenotype correlations to start understanding the mechanisms of the disease. Genetic and environmental modifiers have been explored with some interesting insights from miRNA studies with potential as biomarkers and therapeutic agents. There is an additional value of genetic testing in HCM for prognosis. Knowledge about genetics and functional studies are the basis of near future therapies.	es
dc.format	application/pdf	es
dc.format.extent	12	es
dc.identifier.citation	Clinical Genetics 93(1) 2018: 3-14
dc.identifier.doi	https://doi.org/10.1111/cge.13027
dc.identifier.issn	Print: 0009-9163
dc.identifier.issn	Electronic: 1399-0004
dc.identifier.uri	http://hdl.handle.net/10201/139285
dc.language	eng	es
dc.publisher	Wiley
dc.relation	Investigators are part of a cardiovascular research network (RIC; RD12/0042/49) and of Instituto Murciano de Investigación Biosanitaria (IMIB) both of them from the Carlos III Health Institute. Investigators are part of clinical group of CIBERER and University of Murcia	es
dc.rights	Attribution-NonCommercial-NoDerivates 4.0 International
dc.rights.accessRights	info:eu-repo/semantics/openAccess
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject	Cardiomyopathy
dc.subject	Genetics
dc.subject	Hypertrophy
dc.subject	Sudden death
dc.title	Genetics of hypertrophic cardiomyopathy: A review of current state.	es
dc.type	info:eu-repo/semantics/article	es
dc.type.version	info:eu-repo/semantics/acceptedVersión
dspace.entity.type	Publication	es
relation.isAuthorOfPublication	b6e0add0-b2d7-4a9a-ad70-12b701f2cb29
relation.isAuthorOfPublication.latestForDiscovery	b6e0add0-b2d7-4a9a-ad70-12b701f2cb29