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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...
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Cardiomyopathy I: Introduction and Classification

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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Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
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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,...
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Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Immunophenotypical pleomorphism expression in sudden cardiac death.

M Ceauşu1, C Curcă, Carmen Ardeleanu

  • 1Department of Pathology, Victor Babeş National Institute for Research and Development in Pathology and Biomedical Sciences, Bucharest, Romania. ceausu_mihai@yahoo.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
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PubMed
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Sudden cardiac death in patients with damaged hearts may be predicted by specific markers. Researchers identified Fas-L, b-FGF, and Myo-D1 as potential independent indicators in myocardial tissue analysis.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Cardiovascular Pathology
  • Molecular Biology
  • Immunohistochemistry

Background:

  • Sudden cardiac death (SCD) often results from ischemic or hypoxic myocardial damage.
  • Histopathological and immunohistochemical markers are crucial for understanding myocardial injury.
  • Identifying predictive markers for SCD in compromised hearts is clinically significant.

Purpose of the Study:

  • To evaluate histopathological and immunohistochemical markers in myocardium affected by ischemia and hypoxia in SCD cases.
  • To assess the expression of programmed cell death markers, muscular markers, and growth factor receptors.
  • To determine potential independent markers for predicting SCD in patients with pre-existing myocardial damage.

Main Methods:

  • Analysis of myocardial tissue samples from 17 middle-aged and young SCD patients using HE stain.
  • Application of indirect tristadial ABC peroxidase immunohistochemistry for 12 antibodies.
  • Antibodies targeted programmed cell death (bcl-2, p53, Fas/CD95, Fas-L, bax, caspase 9), muscular markers (Myo-D1, myogenin, desmin, actin), and growth factor receptors (b-FGF, VEGF, NGF).

Main Results:

  • Myogenin and desmin showed varying sensitivity and specificity for identifying ischemic myocardial fibers.
  • Fas-L, caspase 9, and bax were expressed in over 75% of perilesional cardiomyocytes, showing significant correlation.
  • b-FGF, VEGF, and NGF exhibited focal expression and were statistically independent.

Conclusions:

  • Fas-L, b-FGF, and Myo-D1 demonstrated potential as independent markers for predicting SCD in individuals with prior myocardial damage.
  • The study highlights the utility of specific immunohistochemical markers in assessing myocardial injury related to SCD.
  • Further validation of these markers could aid in risk stratification for sudden cardiac death.