Key result
Cardiomyopathies exhibit complex manifestations with incomplete penetrance and genetic heterogeneity, raising hopes for the development of novel disease-modifying therapies.
Highlights the complex genetic landscape of cardiomyopathies, suggesting that understanding incomplete penetrance and genetic heterogeneity could lead to novel disease-modifying therapies.
Does not yet alter clinical management; leaves open targeted therapy development amid genetic heterogeneity in cardiomyopathies.
Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as well as their genetics. Studies done in the last few decades revealed a new concept of complex manifestation of cardiomyopathies with different heterogeneity level, penetration, and inheritance. The incomplete penetrance, genetic heterogeneity, and variable expression in cardiomyopathies paradoxically raise hopes that the development of novel disease modifying therapies may be achievable.
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Rao et al. (2015) conducted a review in Cardiomyopathies. Cardiomyopathies exhibit complex manifestations with incomplete penetrance and genetic heterogeneity, raising hopes for the development of novel disease-modifying therapies.
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