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Genetic Infiltrative Cardiomyopathies

Mary E Sweet1, Luisa Mestroni1, Matthew R G Taylor1

  • 1Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Anschutz, 12700 East 19th Avenue, Aurora, CO 80045, USA.

Heart Failure Clinics
|March 12, 2018
PubMed

Insights

Inherited infiltrative cardiomyopathies involve abnormal substance deposition in the heart, causing dysfunction. This review details genetic causes, mechanisms, cardiac effects, and treatments for these conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Infiltrative cardiomyopathies result from abnormal substance accumulation in cardiac tissue.
  • These conditions can be inherited, stemming from specific gene mutations.
  • They present with diverse extracardiac features and overlapping cardiac phenotypes.

Purpose of the Study:

  • To provide a comprehensive overview of inherited infiltrative cardiomyopathies.
  • To describe causative genes, pathological mechanisms, and cardiac manifestations.
  • To outline current and developing therapeutic strategies.

Main Methods:

  • Literature review of inherited infiltrative cardiomyopathies.
  • Analysis of genetic bases and pathogenic pathways.
  • Synthesis of clinical cardiac presentations and treatment options.

Main Results:

  • Detailed descriptions of various inherited infiltrative cardiomyopathies.
  • Identification of key genes and their roles in disease pathogenesis.
  • Summary of the spectrum of cardiac dysfunction and therapeutic interventions.

Conclusions:

  • Understanding the genetic underpinnings is crucial for diagnosing and managing infiltrative cardiomyopathies.
  • Targeted therapies are emerging for specific genetic defects.
  • Further research is needed to improve treatment outcomes.

Keywords:
AmyloidosisCardiac oxalosisDanon diseaseFabry diseaseFriedreich ataxiaHemochromatosisMucopolysaccharidosisPRKAG2 syndrome

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