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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness?

Tjeerd Germans1, Iris K Rüssel, Marco J W Götte

  • 1Department of Cardiology, VU University Medical Center, Amsterdam, the Netherlands. t.germans@vumc.nl

Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance
|March 17, 2010
PubMed

Insights

Cardiovascular magnetic resonance (CMR) identified reduced myocardial strain and strain rate in hypertrophic cardiomyopathy (HCM) mutation carriers, even before significant hypertrophy develops. These functional assessments, alongside structural evaluation, aid in early carrier identification.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) mutation carriers may exhibit subtle myocardial functional abnormalities detectable by tissue Doppler imaging prior to overt hypertrophy.
  • Clinical data on myocardial function in HCM mutation carriers is limited.

Purpose of the Study:

  • To confirm functional abnormalities in HCM mutation carriers using cardiovascular magnetic resonance (CMR).
  • To investigate if sensitive functional assessments can identify HCM mutation carriers.

Main Methods:

  • Cardiovascular magnetic resonance (CMR) was used to assess global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS), peak diastolic circumferential strain rate (DCSR), and late Gadolinium enhancement (LGE).
  • Echocardiographic tissue Doppler imaging measured septal and lateral myocardial velocities.
  • 28 carriers and 28 controls were studied.

Main Results:

  • HCM mutation carriers showed reduced peak SCS and peak DCSR, particularly in the basal lateral wall, compared to controls.
  • Carriers had larger LA volumes and a higher septal to lateral wall thickness ratio (SL ratio).
  • A combination of SL ratio > 1.2 and peak DCSR < 105%.s-1 accurately identified carriers.

Conclusions:

  • HCM mutation carriership independently determines reduced peak SCS and peak DCSR, even with normal LV wall thickness.
  • Increased LA volumes and SL ratio are associated with HCM mutation carriership.
  • Combining SL ratio and peak DCSR offers high accuracy for carrier identification, but morphology and LGE evaluation are also recommended for comprehensive screening.
Abstract

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