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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...
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Cardiomyopathy I: Introduction and Classification01:25

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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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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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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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Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

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Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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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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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic Testing in Pediatric Cardiomyopathy.

Chalani D Ellepola1, Linda M Knight2, Peter Fischbach3

  • 1Emory University School of Medicine, Atlanta, GA, USA.

Pediatric Cardiology
|December 1, 2017
PubMed
Summary
This summary is machine-generated.

Genetic testing in pediatric non-hypertrophic cardiomyopathy shows a 77% yield, identifying TTN mutations as common. Mutation-positive patients experienced higher rates of cardiac transplantation and death, highlighting the need for genetic data in management.

Keywords:
CardiomyopathyDilatedGeneticOutcomePediatricRestrictive

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Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Genetic testing is recommended for dilated cardiomyopathy (DCM) but yields are less understood in non-hypertrophic forms.
  • Limited genotype-phenotype data exists for pediatric DCM patients, hindering targeted management.
  • Understanding genetic contributions is crucial for prognostication and treatment strategies in pediatric cardiomyopathies.

Purpose of the Study:

  • To evaluate the diagnostic yield of genetic testing in pediatric patients with non-hypertrophic cardiomyopathy.
  • To identify common genetic variants and their correlation with clinical outcomes in this cohort.
  • To assess the impact of genetic findings on patient management, including transplantation and mortality.

Main Methods:

  • Retrospective review of 70 pediatric non-hypertrophic cardiomyopathy probands undergoing genetic evaluation.
  • Analysis of clinical data including age at presentation, ejection fraction, and LVEDd z-score.
  • Classification of cardiomyopathy subtypes and identification of causative gene mutations, including variants of uncertain significance (VUS).

Main Results:

  • Genetic testing yielded a 77% success rate (including VUS), with TTN gene mutations being the most frequent.
  • In patients with a positive family history, the diagnostic yield for pathogenic mutations was 57%.
  • Mutation-positive patients showed significantly higher rates of cardiac transplantation (48% vs. 34%) and mortality (17% vs. 2%) compared to mutation-negative counterparts.

Conclusions:

  • Genetic testing offers a high diagnostic yield in pediatric non-hypertrophic cardiomyopathy, identifying key genes like TTN.
  • Genetic findings significantly correlate with adverse clinical outcomes, including increased need for transplantation and mortality.
  • Large-scale data analysis is essential to leverage genetic information for improved management and prognostication in pediatric DCM.