The genetic landscape of cardiomyopathy and its role in heart failure

Elizabeth M. McNally*, David Y. Barefield, Megan J. Puckelwartz

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

64 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)174-182
Number of pages9
JournalCell Metabolism
Volume21
Issue number2
DOIs
StatePublished - Feb 3 2015

ASJC Scopus subject areas

  • Physiology
  • Molecular Biology
  • Cell Biology

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