Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine.

ABSTRACT: Genetic cardiomyopathies have been studied for decades, and it has become increasingly clear that these progressive diseases are more complex than originally thought. These complexities can be seen both in the molecular etiologies of these disorders and in the clinical phenotypes observed in patients. While these disorders can be caused by mutations in cardiac genes, including ones encoding sarcomeric proteins, the disease presentation varies depending on the patient mutation, where mutations even within the same gene can cause divergent phenotypes. Moreover, it is challenging to connect the mutation-induced molecular insult that drives the disease pathogenesis with the various compensatory and maladaptive pathways that are activated during the course of the subsequent progressive, pathoge

SUBMITTER: Greenberg MJ 

PROVIDER: S-EPMC7852459 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature