Phenotypic diversity in hypertrophic cardiomyopathy
- PMID: 12351586
- DOI: 10.1093/hmg/11.20.2499
Phenotypic diversity in hypertrophic cardiomyopathy
Abstract
In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy (HCM) switched from discovering novel genes and defining disease-causing mutations to studies of mutation distribution in disease populations. Eventually these studies will define genotype-phenotype relationships, which may provide clues to understanding the disease process and help to select the most appropriate treatment strategy. Animal models engineered to recapitulate human disease provide a unique tool to investigate the pathogenic mechanisms and evaluate potential therapies. In this review, we present the spectrum of clinical HCM in the context of the genetic heterogeneity of this common human disease. Recent progress made in understanding molecular pathways that result in cardiac hypertrophy and the factors that modify these processes are discussed.
Similar articles
-
Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Minerva Med. 2001 Dec;92(6):435-51. Minerva Med. 2001. PMID: 11740432 Free PMC article. Review.
-
Research progress of the correlation between genotype and phenotype in hypertrophic cardiomyopathy.Yi Chuan. 2022 Mar 20;44(3):198-207. doi: 10.16288/j.yczz.21-324. Yi Chuan. 2022. PMID: 35307643
-
Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.J Am Coll Cardiol. 2012 Aug 21;60(8):705-15. doi: 10.1016/j.jacc.2012.02.068. Epub 2012 Jul 11. J Am Coll Cardiol. 2012. PMID: 22796258 Review.
-
A One Health Approach to Hypertrophic Cardiomyopathy.Yale J Biol Med. 2017 Sep 25;90(3):433-448. eCollection 2017 Sep. Yale J Biol Med. 2017. PMID: 28955182 Free PMC article. Review.
-
Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.Mol Cell Biochem. 2009 Jan;321(1-2):189-96. doi: 10.1007/s11010-008-9932-0. Epub 2008 Oct 25. Mol Cell Biochem. 2009. PMID: 18953637
Cited by
-
Circular RNA circZFPM2 regulates cardiomyocyte hypertrophy and survival.Basic Res Cardiol. 2024 Aug;119(4):613-632. doi: 10.1007/s00395-024-01048-y. Epub 2024 Apr 19. Basic Res Cardiol. 2024. PMID: 38639887 Free PMC article.
-
Phospholamban p.Leu39* Cardiomyopathy Compared with Other Sarcomeric Cardiomyopathies: Age-Matched Patient Cohorts and Literature Review.J Cardiovasc Dev Dis. 2024 Jan 28;11(2):41. doi: 10.3390/jcdd11020041. J Cardiovasc Dev Dis. 2024. PMID: 38392255 Free PMC article.
-
A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia.Clin Case Rep. 2024 Feb 1;12(2):e8304. doi: 10.1002/ccr3.8304. eCollection 2024 Feb. Clin Case Rep. 2024. PMID: 38314191 Free PMC article.
-
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy.Circulation. 2024 Jan 9;149(2):107-123. doi: 10.1161/CIRCULATIONAHA.123.065987. Epub 2023 Nov 6. Circulation. 2024. PMID: 37929589 Free PMC article.
-
Improving sudden cardiac death risk stratification in hypertrophic cardiomyopathy using established clinical variables and genetic information.Clin Res Cardiol. 2024 May;113(5):728-736. doi: 10.1007/s00392-023-02310-4. Epub 2023 Oct 4. Clin Res Cardiol. 2024. PMID: 37792019 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical