Related Experiment Video

Updated: Aug 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Beyond Sarcomeric Hypertrophic Cardiomyopathy: How to Diagnose and Manage Phenocopies

Maurizio Pieroni1, Michele Ciabatti2, Elisa Saletti2

  • 1Cardiovascular Department, San Donato Hospital, Via Pietro Nenni 22, 52100, Arezzo, Italy. mauriziopieroni@yahoo.com.

Current Cardiology Reports
|September 2, 2022
PubMed

Insights

Identifying hypertrophic cardiomyopathy phenocopies is crucial for accurate diagnosis and treatment. This review outlines common phenocopies, their causes, and diagnostic steps for effective management.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Hypertrophic cardiomyopathy (HCM) diagnosis is evolving with advanced cardiac imaging and genetic testing.
  • HCM phenocopies, mimicking HCM but with different underlying causes, require precise differentiation.
  • Accurate diagnosis is essential due to varying prognoses and emerging targeted therapies.

Purpose of the Study:

  • To detail common phenocopies of hypertrophic cardiomyopathy.
  • To explain the pathogenesis and clinical presentation of these phenocopies.
  • To propose a diagnostic workflow for differentiating HCM from its phenocopies.

Main Methods:

  • Review of current literature on HCM phenocopies.
  • Analysis of diagnostic approaches including clinical history, family history, cardiac imaging, and genetic testing.
  • Synthesis of information to create a step-by-step diagnostic work-up.

Main Results:

  • Common phenocopies of HCM are identified and described.
  • Key similarities and differences in clinical presentation are highlighted.
  • A structured diagnostic approach is presented to aid in differential diagnosis.

Conclusions:

  • Distinguishing HCM phenocopies is critical for appropriate patient management and treatment selection.
  • A comprehensive diagnostic strategy, integrating clinical, imaging, and genetic data, is necessary.
  • Recognizing red flags throughout the work-up is essential for accurate diagnosis.
Abstract

Keywords:
AmyloidosisCardiac imagingHypertrophic cardiomyopathyPhenocopiesRare diseasesStorage disorders

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