Cardiac and skeletal striated muscles are intricately designed machines responsible for
muscle contraction. Coordination of the basic contractile unit, the sarcomere, and the …

Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …

The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …

Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …

Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere
mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also …

Cellular viability requires tight regulation of actin cytoskeletal dynamics. Distinct families of
nucleation-promoting factors enable the rapid assembly of filament nuclei that elongate and …

Despite the striking advances in medical and surgical therapy, the morbidity, mortality, and
economic burden of heart failure (HF) remain unacceptably high. There is increasing …

Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique,
supported by 30 years of research into its genetic etiology. Although pathogenic variants are …