Akhtar, M;
Elliott, P;
(2018)
The genetics of hypertrophic cardiomyopathy.
Global Cardiology Science and Practice
, 2018
(3)
, Article 36. 10.21542/gcsp.2018.36.
Preview |
Text
347-1314-1-PB.pdf - Published Version Download (3MB) | Preview |
Abstract
Hypertrophic cardiomyopathy (HCM) is most commonly transmitted as an autosomal dominant trait, caused by mutations in genes encoding cardiac sarcomere proteins1-3. Other inheritable causes of the disease include mutations in genes coding for proteins important in calcium handling or that form part of the cytoskeleton4-6. At present, the primary clinical role of genetic testing in HCM is to facilitate familial screening to allow the identification of individuals at risk of developing the disease7,8. It is also used to diagnose genocopies, such as lysosomal9-11 and glycogen storage disease which have different treatment strategies, rates of disease progression and prognosis12-14. The role of genetic testing in predicting prognosis is limited at present, but emerging data suggest that knowledge of the genetic basis of disease will assume an important role in disease stratification15-17 and offer potential targets for disease-modifying therapy in the near future18.
Type: | Article |
---|---|
Title: | The genetics of hypertrophic cardiomyopathy |
Location: | Qatar |
Open access status: | An open access version is available from UCL Discovery |
DOI: | 10.21542/gcsp.2018.36 |
Publisher version: | https://doi.org/10.21542/gcsp.2018.36 |
Language: | English |
Additional information: | This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science |
URI: | https://discovery.ucl.ac.uk/id/eprint/10061994 |
Archive Staff Only
View Item |