Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice
Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for
30%–40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic …
30%–40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic …
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity
AR Harper, A Goel, C Grace, KL Thomson… - Nature …, 2021 - nature.com
Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …
Targeting the population for gene therapy with MYBPC3
L Carrier - Journal of Molecular and Cellular Cardiology, 2021 - Elsevier
Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease
characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and …
characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and …
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
RJ Schmidt, M Steeves, P Bayrak-Toydemir… - Genetics in …, 2024 - Elsevier
Purpose Genetic variants at the low end of the penetrance spectrum have historically been
challenging to interpret because their high population frequencies exceed the disease …
challenging to interpret because their high population frequencies exceed the disease …
Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population
Background: Pathogenic and likely pathogenic variants associated with arrhythmogenic
right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic …
right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic …
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on
clinical gene panel testing. The contribution of variants in non-coding DNA elements that …
clinical gene panel testing. The contribution of variants in non-coding DNA elements that …
Molecular genetic basis of hypertrophic cardiomyopathy
AJ Marian - Circulation research, 2021 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the myocardium characterized
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …
by a hypertrophic left ventricle with a preserved or increased ejection fraction. Cardiac …
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy
K Chiswell, L Zaininger, C Semsarian - Progress in Cardiovascular …, 2023 - Elsevier
Studies over the last 30 years have identified hypertrophic cardiomyopathy (HCM) as
predominantly an autosomal dominant disorder caused by disease-causing variants in …
predominantly an autosomal dominant disorder caused by disease-causing variants in …
Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy
BACKGROUND: The 2 sarcomere genes most commonly associated with hypertrophic
cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (β-myosin heavy …
cardiomyopathy (HCM), MYBPC3 (myosin-binding protein C3) and MYH7 (β-myosin heavy …
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3
M Holliday, ES Singer, SB Ross, S Lim… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: Transcriptome sequencing can improve genetic diagnosis of Mendelian
diseases but requires access to tissue expressing disease-relevant transcripts. We explored …
diseases but requires access to tissue expressing disease-relevant transcripts. We explored …