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Phenotypic overlap in hypertrophic cardiomyopathy: apical hypertrophy, midventricular obstruction, and apical

Yuichiro Minami1, Shintaro Haruki1, Nobuhisa Hagiwara1

  • 1Department of Cardiology, Tokyo Women's Medical University, Tokyo, Japan.

Journal of Cardiology
|April 29, 2014
PubMed

Insights

This study clarifies the overlap between apical hypertrophy (APH), midventricular obstruction (MVO), and apical aneurysm (APA) in hypertrophic cardiomyopathy (HCM). Detailed classification of these overlapping phenotypes is clinically significant for predicting patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) presents a diverse spectrum of phenotypes.
  • Subgroups include apical hypertrophy (APH), midventricular obstruction (MVO), and apical aneurysm (APA).
  • Previous studies suggested overlap between these HCM phenotypes, but further clarification was needed.

Purpose of the Study:

  • To investigate the prevalence and overlap of APH, MVO, and APA in hypertrophic cardiomyopathy.
  • To elucidate the prognostic implications of these overlapping phenotypes.
  • To enhance clinical classification and risk stratification in HCM patients.

Main Methods:

  • Retrospective analysis of 544 hypertrophic cardiomyopathy patients.
  • Examination of prevalence and overlap of APH, MVO, and APA.
  • Longitudinal follow-up for assessment of clinical outcomes and event rates.

Main Results:

  • Significant overlap observed between APH, MVO, and APA, with combinations present in some patients.
  • Apical aneurysm (APA) without apical hypertrophy (APH) indicated extremely poor outcomes (≥50% risk of sudden death/arrhythmic events).
  • Apical hypertrophy (APH) without midventricular obstruction (MVO) showed favorable outcomes (<5% risk), while other overlaps had intermediate prognoses (10-40%).

Conclusions:

  • Substantial overlap exists among APH, MVO, and APA in hypertrophic cardiomyopathy.
  • Detailed classification of overlapping HCM phenotypes is clinically meaningful for prognosis.
  • Phenotypic subgrouping aids in refining risk stratification and patient management in HCM.
Abstract

Keywords:
AneurysmHypertrophic cardiomyopathyObstructionPrognosis

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