Hypertrophic Cardiomyopathy: An Overview of Genetics and Management
Abstract
:1. Introduction
2. HCM Phenotypes
2.1. Clinical Phenotypes
2.2. Pathological Phenotypes
3. Genetics of HCM
3.1. Cardiac Sarcomere
3.2. Sarcomere Gene Mutations in HCM
3.3. Beyond the Sacomere Genes
3.4. HCM Phenocopy
4. Genetic Testing
5. Current and Emerging Therapies
6. Conclusions
Funding
Acknowledgments
Conflicts of Interest
References
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Gene | Inheritance | Protein Class (HPRD) | Disorders and Associated Phenotypes |
---|---|---|---|
mtDNA | Mi | Mitochondrial protein | Kearns–Sayre syndrome and multisystem involvement |
BRAF | AD | Serine/threonine kinase | Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous syndrome |
FXN | AR | Transport/cargo protein | Friedreich ataxia |
GAA | AR | Enzyme: Glucosidase | Pompe disease |
GLA | XL | Enzyme: Galactosidase | Fabry disease |
HRAS | AD | GTPase | Costello syndrome, Congenital myopathy with excess of muscle spindles |
KRAS | AD | GTPase | Noonan syndrome, Cardiofaciocutaneous syndrome |
LAMP2 | XL | Adhesion molecule | Danon disease |
MAP2K1 | AD | Dual specificity kinase | Cardiofaciocutaneous syndrome |
MAP2K2 | AD | Dual specificity kinase | Cardiofaciocutaneous syndrome |
NRAS | AD | GTPase | Noonan syndrome |
PRKAG2 | AD | Serine/threonine kinase | Hypertrophic cardiomyopathy (HCM), Wolff–Parkinson–White syndrome, glycogen storage disease of heart |
PTPN11 | AD | Tyrosine phosphatase | Noonan syndrome |
RAF1 | AD | Serine/threonine kinase | LEOPARD syndrome, Noonan syndrome |
RIT1 | AD | GTPase | Noonan syndrome |
SOS1 | AD | Guanine nucleotide exchange factor | Noonan syndrome |
SOS2 | AD | Guanine nucleotide exchange factor | Noonan syndrome 9 |
TTR | AD | Transport/cargo protein | Hereditary transthyretin amyloidosis, |
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Teekakirikul, P.; Zhu, W.; Huang, H.C.; Fung, E. Hypertrophic Cardiomyopathy: An Overview of Genetics and Management. Biomolecules 2019, 9, 878. https://doi.org/10.3390/biom9120878
Teekakirikul P, Zhu W, Huang HC, Fung E. Hypertrophic Cardiomyopathy: An Overview of Genetics and Management. Biomolecules. 2019; 9(12):878. https://doi.org/10.3390/biom9120878
Chicago/Turabian StyleTeekakirikul, Polakit, Wenjuan Zhu, Helen C. Huang, and Erik Fung. 2019. "Hypertrophic Cardiomyopathy: An Overview of Genetics and Management" Biomolecules 9, no. 12: 878. https://doi.org/10.3390/biom9120878