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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
79
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

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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...
56
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

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Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
91
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

51
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,...
51
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

103
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...
103
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

1.9K
Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
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Related Experiment Video

Updated: Oct 4, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Disease Progression of Hypertrophic Cardiomyopathy: Modeling Using Machine Learning.

Matej Pičulin1, Tim Smole1, Bojan Žunkovič1

  • 1Faculty of Computer and Information Science, University of Ljubljana, Ljubljana, Slovenia.

JMIR Medical Informatics
|February 2, 2022
PubMed
Summary
This summary is machine-generated.

This study introduces a machine learning tool to predict hypertrophic cardiomyopathy (HCM) progression over 10 years. The models outperformed expert predictions for 5 of 6 clinical factors, aiding in managing this genetic heart condition.

Keywords:
AIMLSCDartificial intelligencecardiomyopathycardiovascular diseasedisease progressionhypertrophic cardiomyopathymachine learningpredictionprediction modelsudden cardiac deathvalidation

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Area of Science:

  • Cardiology
  • Medical Informatics
  • Machine Learning

Background:

  • Cardiovascular disorders cause 30% of global deaths.
  • Hypertrophic cardiomyopathy (HCM) affects 1 in 500 young adults, posing a risk for sudden cardiac death (SCD).
  • Current methods lack long-term clinical status prediction for HCM patients.

Purpose of the Study:

  • Develop a novel machine learning (ML) tool for predicting HCM disease progression.
  • Forecast adverse cardiac remodeling over a 10-year period.
  • Enhance patient management through long-term clinical status prediction.

Main Methods:

  • Utilized 6 predictive regression models for key clinical characteristics.
  • Independently predicted left atrial size, left atrial volume, ejection fraction, NYHA class, and ventricular diameters.
  • Employed Shapley additive explanation for model interpretability.

Main Results:

  • ML models demonstrated lower predictive error than human experts (average 0.34 vs. experts, 0.22 vs. consortium).
  • Semisupervised learning and virtual patient data improved predictive accuracy.
  • The best random forest model achieved an R² increase from 0.3 to 0.6.

Conclusions:

  • ML models showed favorable performance compared to experts for 5 of 6 predicted clinical targets.
  • Expert validation confirmed the models' clinical utility.
  • The tool offers a promising approach for long-term HCM management.