Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

Circ Res. 2017 Sep 15;121(7):819-837. doi: 10.1161/CIRCRESAHA.117.310982.

Abstract

Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Each of these 3 RCMs is challenging to diagnose, and recognition of each disease entity is frequently delayed. Clinical clues to promote recognition of cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis and imaging techniques used to facilitate diagnosis are discussed. Disease-specific therapies are reviewed. Early recognition remains a key barrier to improving survival in all RCMs.

Keywords: amyloidosis; cardiomyopathies; diagnosis; hemochromatosis; sarcoidosis.

Publication types

  • Review

MeSH terms

  • Animals
  • Biopsy
  • Cardiac Imaging Techniques*
  • Cardiomyopathy, Restrictive* / diagnosis
  • Cardiomyopathy, Restrictive* / genetics
  • Cardiomyopathy, Restrictive* / physiopathology
  • Cardiomyopathy, Restrictive* / therapy
  • DNA Mutational Analysis
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Molecular Diagnostic Techniques*
  • Mutation*
  • Myocardium / pathology*
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Risk Factors
  • Ventricular Dysfunction*

Substances

  • Genetic Markers