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Classification, Epidemiology, and Global Burden of Cardiomyopathies

William J McKenna1, Barry J Maron1, Gaetano Thiene2

  • 1From the Imperial College London, United Kingdom (W.J.M.); Hypertrophic Cardiomyopathy Institute, Division of Cardiology, Tufts Medical Center, Boston, MA (B.J.M.); and Department of Cardiac, Thoracic and Vascular Sciences, University of Padua Medical School, Italy (G.T.).

Circulation Research
|September 16, 2017
PubMed

Insights

Cardiomyopathy research has advanced significantly, identifying new types and genetic links. While diagnosis is straightforward, current treatments are palliative, highlighting the need for therapies targeting underlying molecular causes.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathies represent a significant cause of sudden death in young individuals and a leading indication for cardiac transplantation.
  • Recent decades have seen major advancements in the classification and understanding of cardiomyopathies.
  • Novel forms like arrhythmogenic, restrictive, and noncompaction cardiomyopathies have been identified and integrated into the World Health Organization classification.

Purpose of the Study:

  • To review the significant progress in the nosography and molecular genetics of cardiomyopathies over the past 25 years.
  • To discuss the reclassification of myocarditis as inflammatory cardiomyopathy and the inclusion of channelopathies.
  • To highlight the current therapeutic limitations and the future direction for curative treatments.

Main Methods:

  • Review of recent literature on cardiomyopathy classification and molecular genetics.
  • Analysis of the impact of genetic discoveries on understanding disease mechanisms.
  • Discussion of diagnostic and therapeutic strategies in current clinical practice.

Main Results:

  • Cardiomyopathies are now classified into distinct genetic and molecular subtypes, including cytoskeleton (dilated), sarcomeric (hypertrophic-restrictive), and desmosome (arrhythmogenic) diseases.
  • Inflammatory cardiomyopathy is the new term for myocarditis.
  • Channelopathies are recognized for their contribution to myocyte electrical dysfunction.

Conclusions:

  • Cardiomyopathies are increasingly understood at a molecular level, enabling precise classification.
  • Despite diagnostic advances, current treatments remain largely palliative.
  • Future curative therapies must target the fundamental molecular pathogenesis of these cardiovascular diseases.

Keywords:
cardiomyopathiesgeneticsheart transplantationmyocarditissudden death

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