scholarly journals Mice Expressing Mutant Myosin Heavy Chains Are a Model for Familial Hypertrophic Cardiomyopathy

1996 ◽  
Vol 2 (5) ◽  
pp. 556-567 ◽  
Author(s):  
Karen L. Vikstrom ◽  
Stephen M. Factor ◽  
Leslie A. Leinwand
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Myosin Heavy Chains ◽  
Heavy Chains

scholarly journals Allele-Specific Silencing of MutantMyh6Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy

Science ◽  
2013 ◽  
Vol 342 (6154) ◽  
pp. 111-114 ◽  
Author(s):  
Jianming Jiang ◽  
Hiroko Wakimoto ◽  
J. G. Seidman ◽  
Christine E. Seidman
Keyword(s):  
Rna Interference ◽  
Hypertrophic Cardiomyopathy ◽  
Clinical Phenotype ◽  
Therapeutic Benefit ◽  
Myosin Heavy Chains ◽  
Specific Expression ◽  
Adeno Associated Virus ◽  
Heavy Chains ◽  
Allele Specific ◽  
Sarcomere Proteins

Dominant mutations in sarcomere proteins such as the myosin heavy chains (MHC) are the leading genetic causes of human hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. We found that expression of the HCM-causing cardiac MHC gene (Myh6) R403Q mutation in mice can be selectively silenced by an RNA interference (RNAi) cassette delivered by an adeno-associated virus vector. RNAi-transduced MHC403/+mice developed neither hypertrophy nor myocardial fibrosis, the pathologic manifestations of HCM, for at least 6 months. Because inhibition of HCM was achieved by only a 25% reduction in the levels of the mutant transcripts, we suggest that the variable clinical phenotype in HCM patients reflects allele-specific expression and that partial silencing of mutant transcripts may have therapeutic benefit.

Role of Cardiac MRI in Detecting Familial Hypertrophic Cardiomyopathy: Review

2016 ◽  
Vol 1 (1) ◽  
pp. 4
Author(s):  
Marymol Koshy ◽  
Bushra Johari ◽  
Mohd Farhan Hamdan ◽  
Mohammad Hanafiah
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Magnetic Resonance ◽  
Genetic Disorder ◽  
Familial Hypertrophic Cardiomyopathy ◽  
Non Invasive ◽  
Wide Range ◽  
Proper Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Potential Use

Hypertrophic cardiomyopathy (HCM) is a global disease affecting people of various ethnic origins and both genders. HCM is a genetic disorder with a wide range of symptoms, including the catastrophic presentation of sudden cardiac death. Proper diagnosis and treatment of this disorder can relieve symptoms and prolong life. Non-invasive imaging is essential in diagnosing HCM. We present a review to deliberate the potential use of cardiac magnetic resonance (CMR) imaging in HCM assessment and also identify the risk factors entailed with risk stratification of HCM based on Magnetic Resonance Imaging (MRI).

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