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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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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 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 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

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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: Jan 30, 2026

Targeted DNA Methylation Analysis by Next-generation Sequencing
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Targeted next-generation sequencing in Slovak cardiomyopathy patients.

E Nagyova, J Radvanszky, M Hyblova

    Bratislavske Lekarske Listy
    |January 29, 2019
    PubMed
    Summary

    Next-generation sequencing identified pathogenic variants in 69% of Slovak cardiomyopathy patients. This genetic testing approach should be integrated into routine diagnostics for better disease management.

    Keywords:
    Slovak patientscardiomyopathygene panel genetic testing.next-generation sequencing

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    Area of Science:

    • Cardiovascular Genetics
    • Molecular Diagnostics
    • Genomic Medicine

    Background:

    • Cardiomyopathies are prevalent in Slovakia (1/440).
    • Current genetic diagnostics rely on Sanger sequencing, limiting comprehensive gene analysis.
    • The contribution of known cardiomyopathy genes to Slovak patient cases is largely unknown.

    Purpose of the Study:

    • To implement targeted next-generation sequencing (NGS) for genetic variant detection in Slovak cardiomyopathy patients.
    • To identify candidate pathogenic variants in a cohort of Slovak individuals diagnosed with various cardiomyopathy subtypes.
    • To assess the utility of NGS in the genetic diagnosis of cardiomyopathies within the Slovak population.

    Main Methods:

    • Utilized a targeted NGS panel encompassing 46 known cardiomyopathy-associated genes.
    • Analyzed genetic material from 16 Slovak cardiomyopathy patients (6 dilated, 8 hypertrophic, 2 non-compaction).
    • Focused on detecting candidate pathogenic variants to understand genetic underpinnings.

    Main Results:

    • Identified candidate pathogenic variants in 11 out of 16 patients (69% detection rate).
    • MYBPC3, MYH, and TTN genes showed the highest frequency of variants (3 each).
    • Discovered seven novel variants, including ACTC1 (c.329C>T) and TTN (multiple), potentially indicating Slovak-specific genetic causes.

    Conclusions:

    • NGS successfully identified a high proportion of candidate pathogenic variants in previously untested Slovak cardiomyopathy patients.
    • The study recommends integrating NGS into routine genetic diagnostic practices in Slovakia due to its high yield.
    • This approach can improve the genetic diagnosis and management of cardiomyopathies in the Slovak population.