PLoS ONE (Jan 2012)

Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers.

  • Kai Hang Yiu,
  • Douwe E Atsma,
  • Victoria Delgado,
  • Arnold C T Ng,
  • Tomasz G Witkowski,
  • See Hooi Ewe,
  • Dominique Auger,
  • Eduard R Holman,
  • Anneke M van Mil,
  • Martijn H Breuning,
  • Hung Fat Tse,
  • Jeroen J Bax,
  • Martin J Schalij,
  • Nina Ajmone Marsan

DOI
https://doi.org/10.1371/journal.pone.0036115
Journal volume & issue
Vol. 7, no. 5
p. e36115

Abstract

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BACKGROUND: To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM) phenotype. METHODS AND FINDINGS: Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+) and 47 patients without phenotype expression (Mut+/Phen-) were observed. Twenty-five control subjects, matched with the Mut+/Phen- group, were recruited for comparison. Echocardiography was performed to evaluate conventional parameters, myocardial structural alteration by calibrated integrated backscatter (cIBS) and global and segmental longitudinal strain by speckle tracking analysis. All 3 groups had similar left ventricular dimensions and ejection fraction. Basal anteroseptal cIBS was the highest in Mut+/Phen+ patients (-14.0±4.6 dB, p-19.0 dB basal anteroseptal cIBS or >-18.0% basal anteroseptal longitudinal strain had a sensitivity of 98% and a specificity of 72% in differentiating Mut+/Phen- group from controls. CONCLUSION: The use of cIBS and segmental longitudinal strain can differentiate HCM Mut+/Phen- patients from controls with important clinical implications for the family screening and follow-up of these patients.