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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

69
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...
69
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

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

Cardiomyopathy I: Introduction and Classification

74
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...
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Related Experiment Video

Updated: Sep 21, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Precision Phenotyping of Dilated Cardiomyopathy Using Multidimensional Data.

Upasana Tayal1, Job A J Verdonschot2, Mark R Hazebroek3

  • 1National Heart Lung Institute, Imperial College London, London, United Kingdom; Royal Brompton Hospital (Guy's and St Thomas's NHS Foundation Trust), London, United Kingdom.

Journal of the American College of Cardiology
|June 2, 2022
PubMed
Summary
This summary is machine-generated.

Researchers identified three new dilated cardiomyopathy (DCM) subtypes using multiparametric data. These novel DCM subphenotypes improve patient stratification and prognosis prediction beyond ejection fraction.

Keywords:
heartmachine learningproteomics

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Area of Science:

  • Cardiology
  • Genetics
  • Biomarkers

Background:

  • Dilated cardiomyopathy (DCM) is a complex heart condition with diverse causes and poor outcomes.
  • Current methods for stratifying DCM patients, like ejection fraction, are insufficient for predicting adverse events.

Purpose of the Study:

  • To identify novel, reproducible DCM subphenotypes using comprehensive patient data.
  • To improve patient stratification and risk prediction in DCM.

Main Methods:

  • Utilized longitudinal data from UK and Dutch DCM cohorts (n=665) with clinical, genetic, cardiovascular magnetic resonance, and proteomic assessments.
  • Applied machine learning (profile regression) to identify subtypes and penalized multinomial logistic regression for validation.
  • Compared novel DCM groupings against conventional risk measures using nested Cox models.

Main Results:

  • Identified three distinct DCM subtypes: profibrotic metabolic, mild nonfibrotic, and biventricular impairment.
  • Prognosis significantly differed among subtypes in both derivation and validation cohorts (P < 0.0001).
  • The profibrotic metabolic subtype showed higher rates of diabetes, myocardial fibrosis, and elevated creatinine. Five variables (ventricular volumes, atrial volume, fibrosis, creatinine) were sufficient for classification, improving predictive accuracy (C-statistic from 0.60 to 0.76). Interleukin-4 receptor-alpha emerged as a novel prognostic biomarker.

Conclusions:

  • Discovered three reproducible, mechanistically distinct DCM subtypes using accessible clinical and biological data.
  • These subtypes offer added prognostic value beyond traditional risk models for dilated cardiomyopathy.
  • The identified DCM subphenotypes may facilitate personalized treatment strategies and improve patient selection for novel interventions, advancing precision medicine in cardiology.