Restrictive cardiomyopathy: Genetics, pathogenesis, clinical manifestations, diagnosis, and therapy

Eli Muchtar, Lori A. Blauwet, Morie Gertz

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)819-837
Number of pages19
JournalCirculation Research
Volume121
Issue number7
DOIs
StatePublished - Sep 1 2017

Keywords

  • Amyloidosis
  • Cardiomyopathies
  • Diagnosis
  • Hemochromatosis
  • Sarcoidosis

ASJC Scopus subject areas

  • Physiology
  • Cardiology and Cardiovascular Medicine

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