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Genetic Landscape of Cardiomyopathy and Its Role in Heart Failure

Journal

CELL METABOLISM
Volume 21, Issue 2, Pages 174-182

Publisher

CELL PRESS
DOI: 10.1016/j.cmet.2015.01.013

Keywords

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Funding

  1. NHLBI NIH HHS [R01 HL061322, R01 HL122109] Funding Source: Medline
  2. NIAMS NIH HHS [U54 AR052646] Funding Source: Medline
  3. NINDS NIH HHS [P01 NS072027] Funding Source: Medline

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Heart failure is highly influenced by heritability, and nearly 100 genes link to familial cardiomyopathy. Despite the marked genetic diversity that underlies these complex cardiovascular phenotypes, several key genes and pathways have emerged. Hypertrophic cardiomyopathy is characterized by increased contractility and a greater energetic cost of cardiac output. Dilated cardiomyopathy is often triggered by mutations that disrupt the giant protein titin. The energetic consequences of these mutations offer molecular targets and opportunities for new drug development and gene correction therapies.

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