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Aortic Stiffness in Youth with Hypertrophic Cardiomyopathy Genotype

Justin P Zachariah1, Philip K Johnson2,3, Steven D Colan2,3

  • 1Section of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, 6621 Fannin St WT 19th Floor, Houston, TX, 77030, USA. justin.zachariah@bcm.edu.

Pediatric Cardiology
|April 5, 2016
PubMed

Insights

Youth with hypertrophic cardiomyopathy (HCM) gene mutations showed lower aortic stiffness but higher wave reflection. Increased wave reflection correlated with left ventricular (LV) hypertrophy, suggesting potential therapeutic targets.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Pediatric Cardiology

Background:

  • Clinical events in hypertrophic cardiomyopathy (HCM) are linked to the severity of left ventricular (LV) hypertrophy.
  • Aortic stiffness is elevated in adult HCM patients, potentially exacerbating LV hypertrophy and clinical outcomes.
  • The impact of HCM-related genetic mutations on aortic structure and function in youth remains less understood.

Purpose of the Study:

  • To noninvasively compare aortic structure and function in youth with sarcomeric HCM genotypes versus healthy controls.
  • To investigate the relationship between aortic function parameters and the degree of LV hypertrophy in young HCM patients.

Main Methods:

  • Prospective study involving 28 HCM gene carriers and 26 controls (mean age 16.3 years).
  • Hemodynamic assessment included central pulse pressure, carotid-femoral pulse wave velocity (CFPWV), and augmentation index (AIx) via applanation tonometry.
  • LV mass-to-volume ratio from echocardiograms served as an index of hypertrophy; multivariable regression analyzed associations.

Main Results:

  • HCM carriers exhibited significantly lower CFPWV (a measure of aortic stiffness) compared to controls (4.46 vs. 4.97 m/s).
  • HCM carriers demonstrated a higher AIx magnitude (wave reflection) than controls (27% vs. 18%).
  • Within the HCM group, LV hypertrophy correlated with AIx but not CFPWV.

Conclusions:

  • Youth with HCM gene mutations present with reduced aortic stiffness but increased aortic wave reflection.
  • Aortic wave reflection, not stiffness, is associated with LV hypertrophy in this pediatric HCM cohort.
  • Targeting aortic wave reflection may offer a strategy to mitigate LV hypertrophy in young HCM patients.

Keywords:
AorticArterial stiffnessChildrenHypertrophic cardiomyopathyPediatricVascular

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