Diastolic abnormalities in normal phenotype hypertrophic cardiomyopathy gene carriers: a study using speckle tracking echocardiography

Echocardiography. 2013 May;30(5):558-63. doi: 10.1111/echo.12076. Epub 2012 Dec 10.

Abstract

Background: Tissue Doppler imaging (TDI) of the mitral annulus has been proposed as an alternative for the identification of hypertrophic cardiomyopathy (HCM) genetically affected subjects without left ventricular hypertrophy (G+/LVH-). Unfortunately, conflicting results have been described in the literature, potentially caused by the angle-dependency of TDI. This study sought to assess abnormalities in mitral annular velocities in G+/LVH- subjects as detected by speckle tracking echocardiography (STE).

Methods: The study population consisted of 23 consecutive genotyped family members without major or minor criteria for the diagnosis of HCM (mean age 37 ± 13 years, 9 men) and 23 healthy volunteers (age 38 ± 12 years, 12 men) who prospectively underwent STE.

Results: There were no significant differences in global peak systolic annular velocity (7.4 ± 1.2 vs. 7.1 ± 1.0 cm/sec) and early diastolic annular velocity (10.2 ± 2.5 vs. 11.3 ± 2.2 cm/sec) between G+/LVH- and control subjects. Global peak late diastolic annular velocity was higher in G+/LVH- subjects (8.1 ± 1.7 vs. 5.7 ± 1.1 cm/sec, P < 0.001). Regionally, this difference was seen in all 6 studied LV walls.

Conclusions: This STE study confirms our previous TDI observations on increased peak late diastolic annular velocities in G+/LVH- subjects. Because of the complete overlap in early diastolic annular velocities this parameter cannot be used in the genotypes we studied to differentiate genotype (+) from genotype (-) individuals.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic / diagnostic imaging*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Case-Control Studies
  • Diastole / physiology
  • Echocardiography, Doppler, Pulsed / methods
  • Female
  • Heterozygote*
  • Humans
  • Male
  • Middle Aged
  • Mitral Valve / diagnostic imaging
  • Mitral Valve / physiopathology
  • Pedigree
  • Phenotype
  • Prospective Studies
  • Reference Values
  • Risk Assessment
  • Systole / physiology
  • Ventricular Dysfunction, Left / diagnostic imaging*
  • Ventricular Dysfunction, Left / genetics
  • Ventricular Dysfunction, Right / diagnostic imaging
  • Ventricular Dysfunction, Right / genetics