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Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

Riccardo Vio1, Annalisa Angelini1, Cristina Basso1

  • 1Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, 35128 Padova, Italy.

Journal of Clinical Medicine
|June 2, 2021
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) share genetic roots and diastolic dysfunction. Familial RCM may be part of HCM

Area of Science:

  • Cardiology
  • Genetics
  • Pathophysiology

Background:

  • Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) share sarcomeric gene variants and diastolic dysfunction.
  • Familial RCM cases may represent a phenotypic spectrum of HCM, challenging distinct genetic classifications.
  • Infiltrative and storage diseases can mimic HCM or RCM phenotypes.

Purpose of the Study:

  • To explore the hypothesis that familial primary RCM is part of the HCM phenotypic spectrum.
  • To highlight the importance of accurate etiological diagnosis for sarcomeric cardiomyopathies and phenocopies.

Main Methods:

  • Review of existing literature and clinical observations regarding HCM and RCM.
  • Analysis of genetic backgrounds and pathophysiological mechanisms.
  • Comparison of clinical presentations and diagnostic criteria.

Main Results:

  • HCM and primary RCM share significant genetic and pathophysiological similarities.
  • A distinct pathophysiological profile of HCM with restrictive physiology supports a unified spectrum hypothesis.
  • Phenotypic overlap exists with infiltrative and storage diseases, complicating diagnosis.

Conclusions:

  • Familial RCM may not be a distinct genetic cardiomyopathy but rather a manifestation of HCM.
  • Accurate etiological diagnosis is crucial for guiding family screening and therapeutic strategies.
  • Distinguishing between HCM, primary RCM, and phenocopies is essential for patient management.

Keywords:
Fabry diseaseamyloidosiscardiomyopathiesgeneticsglycogen storage diseasesheart failurehypertrophic cardiomyopathyrestrictive cardiomyopathyrestrictive physiology

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