Molecular mechanism of sarcomeric cardiomyopathies

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


In the early 1990s, researchers identified a genetic basis for hypertrophic cardiomyopathy (HCM) (Geisterfer-Lowrance et al., Cell, 62(5):999-1006, 1990). They proposed that mutations in sarcomeric genes are causal for the hypertrophic phenotype. This opened the door to a new understanding of the disease pathology (Seidman and Seidman, Cell, 104(4):557-67, 2001). Experimentation into the molecular mechanisms of these mutations, along with increased genetic testing, revealed that sarcomeric gene mutations are also causal for dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). This led to the redefining of these familial diseases as sarcomeric cardiomyopathies (Tardiff et al., Cardiovasc Res, 105(4):457-70, 2015; van der Velden et al., Cardiovasc Res, 105(4):449-56, 2015). This chapter provides an overview of the molecular mechanisms of sarcomeric cardiomyopathies and experimental therapies that target these mechanisms.

Original languageEnglish (US)
Title of host publicationCongestive Heart Failure and Cardiac Transplantation
Subtitle of host publicationClinical, Pathology, Imaging and Molecular Profiles
PublisherSpringer International Publishing
Number of pages10
ISBN (Electronic)9783319445779
ISBN (Print)9783319445755
StatePublished - Jun 1 2017

Bibliographical note

Publisher Copyright:
© Springer International Publishing AG 2017.


  • Adult cardiac myocytes
  • Calcium sensitivity
  • Myofilament
  • Sarcomere
  • Sarcomeric cardiomyopathies
  • Troponin


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