Multiple myocardial crypts on modified long-axis view are a specific finding in pre-hypertrophic HCM mutation

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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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Wessel P Brouwer1, Tjeerd Germans, Maaike C Head

  • 1Department of Cardiology, VU University Medical Center, De Boelelaan 1117, Amsterdam, The Netherlands. w.brouwer@vumc.nl

European Heart Journal. Cardiovascular Imaging
|January 27, 2012
PubMed

Insights

Cardiovascular magnetic resonance imaging (CMR) can identify specific myocardial crypts in hypertrophic cardiomyopathy (HCM) mutation carriers. These crypts, especially when multiple, are highly specific for carriers and aid in family screening.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Genetics

Background:

  • Myocardial crypts are observable via cardiovascular magnetic resonance imaging (CMR).
  • Their specific morphology in hypertrophic cardiomyopathy (HCM) mutation carriers without hypertrophy remains unclear.
  • Standard long-axis views can detect crypts, but modified views may improve detection.

Purpose of the Study:

  • To compare crypt morphology in HCM mutation carriers versus controls.
  • To determine the optimal imaging plane (modified two-chamber vs. standard long-axis views) for crypt detection.
  • To evaluate the accuracy of crypts for identifying HCM carriers in family screening.

Main Methods:

  • Prospective CMR imaging including standard long-axis and modified two-chamber views.
  • Study population comprised HCM mutation carriers (n=43), controls (n=252), and mutation-negative family members (n=15).
  • Analysis focused on crypt presence, depth, and correlation with carriership.

Main Results:

  • Crypts were detected in 70% of carriers versus 12% of controls (P<0.001).
  • Crypts in carriers showed deeper myocardial penetration (74% vs. 59%, P<0.01).
  • Detection of ≥2 crypts demonstrated 51% sensitivity and 94% specificity for carriership; modified views doubled sensitivity.

Conclusions:

  • Multiple myocardial crypts without left ventricular hypertrophy are highly specific for HCM mutation carriers.
  • Modified two-chamber views enhance crypt detection sensitivity compared to standard views.
  • CMR with crypt analysis is valuable for identifying HCM carriers during family screening.
Abstract

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