Related Experiment Video

Updated: Aug 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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[Hypertrophic cardiomyopathies and ATTR amyloidosis - a current review for clinical practice]

Carsten Tschöpe1,2,3, Ahmed Elsanhoury1, Sonja Diekmann2

  • 1Berlin Institute of Health at Charité (BIH), Universitätsmedizin Berlin, BIH Center for Regenerative Therapies (BCRT), Berlin, Germany.

Deutsche Medizinische Wochenschrift (1946)
|August 28, 2022
PubMed

Insights

Hypertrophic cardiomyopathies (HCM) involve left ventricular wall thickening (≥15 mm). Distinguishing HCM from genetic sarcomeric diseases and cardiac amyloidoses is crucial for patient prognosis and effective treatment strategies.

Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Cardiomyopathies encompass dilated, restrictive, and hypertrophic forms.
  • Hypertrophic cardiomyopathy (HCM) is defined by left ventricular wall thickness ≥15 mm.
  • HCM can be obscured by genetic sarcomeric diseases, storage diseases, or syndromes.

Purpose of the Study:

  • To highlight the diagnostic challenges in differentiating HCM subtypes.
  • To emphasize the clinical significance of distinguishing between sarcomere mutations and cardiac amyloidoses.
  • To underscore the importance of early diagnosis for improved patient prognosis.

Main Methods:

  • Review of clinical definitions and diagnostic criteria for cardiomyopathies.
  • Discussion of underlyingPathophysiological mechanisms including genetic and storage diseases.
  • Analysis of differential diagnostic approaches in clinical practice.

Main Results:

  • HCM diagnosis relies on specific left ventricular wall thickness measurements.
  • Genetic sarcomeric diseases and cardiac amyloidoses present overlapping features with HCM.
  • Accurate differentiation is often challenging due to shared clinical presentations.

Conclusions:

  • Distinguishing between genetic sarcomeric diseases and cardiac amyloidoses is critical for HCM management.
  • Early and accurate diagnosis significantly impacts patient prognosis.
  • Further research into specific biomarkers and diagnostic tools may improve differentiation.

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