Amyloid heart disease: genetics translated into disease-modifying therapy

Heart. 2017 Jun;103(11):812-817. doi: 10.1136/heartjnl-2016-309914. Epub 2017 Mar 2.

Abstract

Given increased awareness and improved non-invasive diagnostic tools, cardiac amyloidosis has become an increasingly recognised aetiology of increased ventricular wall thickness and heart failure with preserved ejection fraction. Once considered a rare disease with no treatment options, translational research has harnessed novel pathways and led the way to promising treatment options. Gene variants that contribute to amyloid heart disease provide unique opportunities to explore potential disease-modifying therapeutic strategies. Amyloidosis has become the model disease through which gene therapy using small interfering RNAs and antisense oligonucleotides has evolved.

Keywords: Amyloid heart disease; gene silencing; restrictive cardiomyopathy.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloidosis / genetics*
  • Amyloidosis / therapy
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / therapy
  • Genetic Therapy / methods*
  • Humans