Related Experiment Video

Updated: May 3, 2026

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
07:11

Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography

Published on: October 28, 2020

2.8K

Unusual hypertrophic cardiomyopathy with severe right ventricular outflow tract obstruction and two septal aneurysms:

Yangyang Sun1, Shengcong Liu1, Jianping Li2,3

  • 1Department of Cardiology, Peking University First Hospital, Xishiku 8, Xicheng District, Beijing, 100034, China.

BMC Cardiovascular Disorders
|May 1, 2026
PubMed

Insights

Severe right ventricular outflow tract (RVOT) obstruction caused by hypertrophic cardiomyopathy (HCM) is rare. This case highlights unique cardiac features and novel genetic mutations in HCM, emphasizing individualized management and genotype-phenotype correlation.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Case Studies

Background:

  • Hypertrophic cardiomyopathy (HCM) typically involves left ventricular thickening, but right ventricular (RV) involvement is common and linked to poorer prognosis.
  • Right ventricular outflow tract (RVOT) obstruction is rare, with HCM being a prevalent cause.
  • Severe RVOT obstruction due to HCM is seldom reported, necessitating further investigation into its characteristics.

Purpose of the Study:

  • To describe a rare case of severe RVOT obstruction caused by HCM.
  • To characterize the unique phenotypic and genetic features of this HCM presentation.
  • To discuss the clinical implications and management of such rare cases.

Main Methods:

  • A case report of a 33-year-old woman with severe RVOT obstruction due to HCM.
  • Diagnostic methods included imaging, genetic testing, and histological findings.
  • The patient underwent RVOT myectomy, with follow-up echocardiography.

Main Results:

  • The patient presented with severe RVOT obstruction, apical hypertrophy, and septal/atrial aneurysms.
  • Genetic testing identified three novel mutation sites associated with cardiomyopathy.
  • Post-myectomy, echocardiography showed improved RV function and reduced RVOT pressure gradient.

Conclusions:

  • Isolated severe RVOT obstruction from HCM is rare and requires differentiation from congenital heart diseases.
  • Management should be individualized, guided by HCM principles.
  • This case demonstrates phenotypic and genetic heterogeneity in HCM, contributing to understanding genotype-phenotype correlations.
Abstract

Keywords:
Heart failureHypertrophic cardiomyopathyMembranous ventricular septal aneurysmRight ventricular outflow tract obstruction

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