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Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic

Carolyn Y Ho1, Nancy K Sweitzer, Barbara McDonough

  • 1Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass 02115, USA.

Circulation
|June 26, 2002
PubMed

Insights

Diastolic dysfunction detected by Doppler tissue imaging may precede left ventricular hypertrophy in hypertrophic cardiomyopathy (HCM) patients with beta-myosin heavy chain mutations. Combining diastolic function and ejection fraction improves early genotype prediction.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Left ventricular hypertrophy (LVH) is a hallmark of hypertrophic cardiomyopathy (HCM), but it doesn't identify all genetically affected individuals.
  • Altered diastolic function is a potential early indicator of HCM before LVH develops, but clinical data on imaging techniques are limited.

Purpose of the Study:

  • To investigate diastolic function using Doppler tissue imaging (DTI) as an early marker for HCM in genotyped individuals.
  • To assess the clinical utility of DTI in identifying HCM before the development of LVH.

Main Methods:

  • Echocardiographic studies with DTI were performed on genotyped HCM patients with beta-myosin heavy chain (beta-MHC) mutations.
  • Compared genotype-positive individuals with and without LVH to normal controls.

Main Results:

  • Genotype-positive individuals had significantly higher ejection fractions (EF) than controls.
  • Mean early diastolic myocardial velocities (Ea) were significantly lower in genotype-positive individuals, regardless of LVH.
  • A combination of EF > or =68% and Ea velocity <15 cm/s showed 100% specificity for predicting affected genotype.

Conclusions:

  • Diastolic dysfunction assessed by DTI precedes LVH in HCM patients with beta-MHC mutations.
  • Ea velocity alone is not sensitive enough, but its combination with EF is highly predictive of affected genotype in individuals without overt HCM manifestations.
Abstract

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