Related Experiment Video

Updated: Sep 10, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.7K

Phenotypic overlap in apical hypertrophic cardiomyopathy: one size does not fit all

Offdan Narvaez-Guerra1, Mina Botros2, Evan Offord2

  • 1Division of Cardiology, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA offdannarvaez@gmail.com.

BMJ Case Reports
|August 27, 2025
PubMed

Insights

This case highlights how multimodality imaging is crucial for managing hypertrophic cardiomyopathy (HCM) with overlapping phenotypes. Echocardiography and cardiac magnetic resonance (CMR) can reveal subclinical markers of adverse prognosis in apical HCM (ApHCM).

Area of Science:

  • Cardiology
  • Medical Imaging
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) presents with diverse left ventricular hypertrophy phenotypes, each carrying distinct morbidity and mortality risks.
  • Phenotypic overlap exists between apical HCM (ApHCM) and mid-ventricular HCM, complicating risk stratification.
  • Accurate diagnosis and risk assessment are vital for managing HCM patients.

Purpose of the Study:

  • To illustrate the importance of multimodality imaging in a case of phenotypically overlapping ApHCM.
  • To demonstrate the complementary roles of echocardiography and cardiac magnetic resonance (CMR) in assessing sudden cardiac death risk.
  • To highlight subclinical markers of adverse prognosis in ApHCM.

Main Methods:

  • Case report of a young woman with overlapping ApHCM.
  • Utilized multimodality imaging, including echocardiography and CMR.
  • Analyzed imaging findings for risk stratification and prognostic indicators.

Main Results:

  • Multimodality imaging identified a phenotypically overlapping ApHCM with varied sudden cardiac death risk.
  • Echocardiographic and CMR findings served as subclinical markers of adverse prognosis.
  • The case underscores the diagnostic and prognostic value of integrated imaging approaches.

Conclusions:

  • Multimodality imaging is essential for managing HCM patients with phenotypic overlap.
  • Echocardiography and CMR provide critical insights into prognosis for ApHCM.
  • Understanding imaging phenotypes aids in personalized risk assessment and management strategies for HCM.

Keywords:
Anatomic VariationCardiovascular medicine

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

5.8K
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

10.2K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
45
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
50
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
21
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
52
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
32
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
27