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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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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Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

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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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Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
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Mitral regurgitation (MR) is a valvular heart disorder in which the mitral valve fails to close tightly, allowing blood to leak backward into the heart. Understanding the clinical manifestations, assessment, diagnostic findings, and medical management of MR is crucial to effectively managing affected patients.Clinical Manifestations of Mitral RegurgitationMitral regurgitation can be acute or chronic, each presenting differently and requiring different approaches:1. Acute Mitral...
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Genetic Testing in Pediatric Left Ventricular Noncompaction.

Erin M Miller1, Robert B Hinton2, Richard Czosek2

  • 1From the Division of Cardiology (E.M.M., R.B.H., R.C., A.L., A.P., A.R.S.) and Division of Biostatistics and Epidemiology (R.F.I.), Cincinnati Children's Hospital Medical Center, OH; and Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis (S.M.W.). erin.miller@cchmc.org.

Circulation. Cardiovascular Genetics
|December 8, 2017
PubMed
Summary
This summary is machine-generated.

Cardiomyopathy gene panel testing yields positive results in 9% of pediatric left ventricular noncompaction (LVNC) cases. Genetic testing is recommended for LVNC with cardiomyopathy but not for isolated LVNC without a family history.

Keywords:
cardiomyopathiesgenetic testinginfantpediatricsphenotype

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Area of Science:

  • Pediatric Cardiology
  • Clinical Genetics
  • Cardiovascular Research

Background:

  • Left ventricular noncompaction (LVNC) is a rare congenital heart defect that can occur alone or with other cardiac conditions.
  • The diagnostic yield of genetic testing for LVNC in pediatric patients is not well-established.
  • Understanding genetic factors in LVNC is crucial for diagnosis and management.

Purpose of the Study:

  • To determine the yield of cardiomyopathy gene panel testing in children and adolescents with LVNC.
  • To compare genetic testing yield in isolated LVNC versus LVNC with co-occurring cardiac findings.
  • To identify factors influencing genetic testing outcomes in pediatric LVNC.

Main Methods:

  • Retrospective analysis of 128 pediatric patients (≤21 years) diagnosed with LVNC.
  • Review of genetic testing results, including cardiomyopathy gene panels and known variant testing.
  • Correlation of genetic findings with clinical data, including LVNC severity, cardiac features, and family history.

Main Results:

  • The overall yield of cardiomyopathy gene panel testing in pediatric LVNC was 9%.
  • Patients with LVNC and co-occurring cardiomyopathy had a significantly higher positive genetic testing rate (12%) compared to those with isolated LVNC (0%).
  • LVNC severity, pathogenesis, family history, or myocardial dysfunction did not correlate with genetic testing results.

Conclusions:

  • Genetic testing is indicated for pediatric patients with LVNC and co-occurring cardiomyopathy.
  • Cardiomyopathy gene panel testing is not recommended for isolated LVNC in the absence of a family history of cardiomyopathy.