Understanding the early molecular pathophysiology of sarcomere mutations may illuminate modifiable pathways to prevent overt cardiomyopathy and adverse outcomes.
Does not alter clinical management of cardiomyopathy; leaves open whether targeting early sarcomere disruption can prevent progression.
Sarcomere cardiomyopathies are genetic diseases that perturb contractile function and lead to hypertrophic or dilated myocardial remodeling. Identification of preclinical mutation carriers has yielded insights into the earliest biomechanical defects that link pathogenic variants to cardiac dysfunction. Understanding this early molecular pathophysiology can illuminate modifiable pathways to reduce the emergence of overt cardiomyopathy and curb adverse outcomes. Here, the authors review current understandings of how human hypertrophic cardiomyopathy- and hypertrophic dilated cardiomyopathy-linked mutations disrupt the normal structure and function of the sarcomere.
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Garfinkel et al. (2018) studied this question.
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