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Related Concept Videos

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...
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,...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...

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Genetic Testing Yield for Dilated Cardiomyopathy in a Single Lithuanian Center.

Marius Šukys1, Eglė Ereminienė2,3, Kristina Aleknavičienė1

  • 1Department of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.

Diagnostics (Basel, Switzerland)
|July 15, 2026
PubMed
Summary

Genetic testing identified pathogenic variants in 20.7% of patients with dilated cardiomyopathy (DCM), with TTN being the most common gene. This aids in understanding DCM and managing at-risk relatives.

Keywords:
TTNdilated cardiomyopathygenetic testing

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Area of Science:

  • Cardiovascular Genetics
  • Medical Genomics
  • Molecular Cardiology

Background:

  • Dilated cardiomyopathy (DCM) is a complex heart condition with significant genetic underpinnings.
  • Hereditary DCM often results from variants in genes coding for sarcomere proteins or desmosomal components.
  • Identifying genetic causes is crucial for understanding DCM pathophysiology, prognosis, and personalized treatment.

Purpose of the Study:

  • To determine the diagnostic yield of next-generation sequencing (NGS) cardiovascular gene panels in adult patients with isolated DCM.
  • To identify frequently affected genes and novel variants in a Lithuanian cohort.
  • To assess the clinical utility of genetic testing for DCM diagnosis and management.

Main Methods:

  • Retrospective analysis of genetic data from 169 adult patients diagnosed with isolated DCM.
  • Utilized a next-generation sequencing cardiovascular gene panel for genetic testing.
  • Reanalyzed genetic variants according to current classification guidelines.

Main Results:

  • Achieved a final genetic testing diagnostic yield of 20.7% (35 out of 169 patients).
  • TTN variants were most frequent (n=30), followed by rare variants in BAG3, DSP, LMNA, and FLNC.
  • Identified 15 novel variants not previously reported in literature or databases.
  • No significant clinical differences were observed between patients with and without pathogenic variants.

Conclusions:

  • Genetic testing is a valuable tool for diagnosing complex DCM cases.
  • Early identification of genetic causes facilitates timely disease management for patients and their at-risk relatives.
  • Further research is needed to correlate specific genotypes with clinical phenotypes in DCM.