Genetic advances in sarcomeric cardiomyopathies: state of the art

• Published in: Cardiovascular research Vol. 105; no. 4; pp. 397 - 408
• Main Authors: Ho, Carolyn Y, Charron, Philippe, Richard, Pascale, Girolami, Francesca, Van Spaendonck-Zwarts, Karin Y, Pinto, Yigal
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.04.2015
• Series: Editor's choice
• Subjects: Animals; Cardiomyopathies - diagnosis; Cardiomyopathies - genetics; Cardiomyopathies - metabolism; Cardiomyopathies - physiopathology; Cardiomyopathies - therapy; Computational Biology; DNA Mutational Analysis; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing - methods; Genetic Therapy; Humans; Invited Spotlight Reviews; Mutation; Phenotype; Predictive Value of Tests; Risk Factors; Sarcomeres - metabolism; Sarcomeres - pathology; Hypertrophic cardiomyopathy; Genetics; Dilated cardiomyopathy; Sarcomere; Next Generation Sequencing

Genetic studies in the 1980s and 1990s led to landmark discoveries that sarcomere mutations cause both hypertrophic and dilated cardiomyopathies. Sarcomere mutations also likely play a role in more complex phenotypes and overlap cardiomyopathies with features of hypertrophy, dilation, diastolic abno...