Related Experiment Video

Updated: May 3, 2026

Transthoracic Echocardiographic Examination in the Rabbit Model
14:46

Transthoracic Echocardiographic Examination in the Rabbit Model

Published on: June 1, 2019

12.7K

Double jeopardy in the echocardiography laboratory: coexistence of two distinct cardiomyopathies?

Timothy E Paterick1, Alix J Tercius, Anushree Agarwal

  • 1Aurora Cardiovascular Services, Aurora Sinai, Aurora St. Luke's Medical Centers, School of Medicine and Public Health, University of Wisconsin, Milwaukee, Wisconsin.

Echocardiography (Mount Kisco, N.Y.)
|January 23, 2014
PubMed

Insights

Six patients presented with co-occurring Hypertrophic Cardiomyopathy (HCM) and cardiac amyloidosis or left ventricular noncompaction (LVNC). A common genetic cause remains elusive, requiring further investigation into complex genetic substrates.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • A Hypertrophic Cardiomyopathy (HCM) Center identified six patients with apparent co-occurrence of two rare cardiac conditions.
  • This observation prompted an investigation into a potential shared underlying cause or common derivative.

Observation:

  • A retrospective review identified patients diagnosed with HCM, cardiac amyloidosis, and left ventricular noncompaction (LVNC).
  • Transthoracic echocardiography and magnetic resonance imaging revealed six patients with apical hypertrabeculations and myocardium suggestive of LVNC.

Findings:

  • Four of the six patients had co-existing HCM.
  • Two of the six patients had co-existing cardiac amyloidosis.

Implications:

  • The clinical significance of these concomitant cardiomyopathies is currently not well understood.
  • No common genetic link was identified, suggesting a potentially complex or yet-to-be-discovered genetic basis.
Abstract

Keywords:
amyloid heart diseasehypertrophic cardiomyopathyleft ventricular noncompactionphenotypic variability

More Related Videos

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

2.0K
Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice12:12

Echocardiographic Approaches and Protocols for Comprehensive Phenotypic Characterization of Valvular Heart Disease in Mice

Published on: February 14, 2017

16.0K

Related Concept Videos

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,...
790
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...
805
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...
826
Imaging Studies for Cardiovascular System II:Types of Echocardiography01:20

Imaging Studies for Cardiovascular System II:Types of Echocardiography

Echocardiography plays a role in assessing cardiac health and detecting heart conditions, with various types providing critical insights for diagnosis and treatment.
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for...
964
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...
952
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
493