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Related Concept Videos

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 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...
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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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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

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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...
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Cardiomyopathy VI: Nursing Management01:29

Cardiomyopathy VI: Nursing Management

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Assessment: Nursing management of patients with cardiomyopathy begins with a thorough assessment of the patient's history, including a family history of cardiomyopathy or sudden cardiac death, personal history of heart disease, hypertension, diabetes, and any alcohol consumption or drug use.During the physical examination, assess vital signs, look for signs of heart failure (such as edema, jugular venous distention, and cyanosis), auscultate for abnormal heart sounds (like murmurs and gallops),...
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Related Experiment Video

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic counselling implementation in dilated cardiomyopathy.

Job A J Verdonschot1,2, Karin Y van Spaendonck-Zwarts3,4, Debby M E I Hellebrekers1

  • 1Department of Clinical Genetics, Maastricht University Medical Center+, P. Debyelaan 25, Maastricht 6229HX, The Netherlands.

European Heart Journal
|March 20, 2026
PubMed
Summary

Genetic testing is crucial for diagnosing dilated cardiomyopathy (DCM), aiding risk stratification, prognosis, and treatment decisions for patients and families. Advances are shifting focus from single-gene to polygenic causes, improving clinical utility.

Keywords:
Dilated cardiomyopathyGenetic testingPathogenic variant

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Area of Science:

  • Cardiovascular Genetics
  • Medical Diagnostics

Background:

  • Genetic testing is integral to diagnosing dilated cardiomyopathy (DCM).
  • Understanding of DCM's genetic basis has evolved from monogenic to polygenic models.
  • Current strategies often still rely on monogenic inheritance assumptions.

Purpose of the Study:

  • To highlight the expanding role of genetic testing in DCM diagnosis and clinical decision-making.
  • To discuss the evolving genetic landscape of DCM, including polygenic influences.
  • To propose an integrated approach for genetic testing in DCM patient care.

Main Methods:

  • Review of current genetic testing strategies for DCM.
  • Analysis of genetic testing yield (8-36%) based on etiology and family history.
  • Classification of genetic variants and their clinical interpretation.

Main Results:

  • Genetic testing has actionable clinical implications impacting risk stratification, prognosis, and treatment.
  • Results can guide decisions on device therapy, family screening, and reproductive options.
  • Interpreting variants requires considering patient phenotype and other factors.

Conclusions:

  • Genetic testing is warranted when results influence patient or family management.
  • A comprehensive approach integrating genetic insights into DCM care is essential.
  • The utility of genetic testing in DCM extends beyond risk identification to direct clinical management.