Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study.

07:00 EST 8th November 2019 | BioPortfolio

Summary of "Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study."

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a life-threatening entity with a highly heterogeneous genetic background. Cardiac magnetic resonance (CMR) imaging can identify fibrofatty scar by late gadolinium enhancement (LGE). Our aim is to investigate genotype-phenotype correlation in ARVC/D mutation carriers, focusing on CMR-LGE and myocardial fibrosis patterns.


Journal Details

This article was published in the following journal.

Name: European heart journal cardiovascular Imaging
ISSN: 2047-2412


DeepDyve research library

PubMed Articles [19151 Associated PubMed Articles listed on BioPortfolio]

Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.

HCM is the most common inherited cardiomyopathy. Historically, there has been poor correlation between genotype and phenotype. However, CMR has the potential to more accurately assess disease phenotyp...

Molecular mechanisms of arrhythmogenic cardiomyopathy.

Arrhythmogenic cardiomyopathy is a genetic disorder characterized by the risk of life-threatening arrhythmias, myocardial dysfunction and fibrofatty replacement of myocardial tissue. Mutations in gene...

Current understanding of fibrosis in genetic cardiomyopathies.

Myocardial fibrosis is the excessive deposition of extracellular matrix proteins, including collagens, in the heart. In cardiomyopathies, the formation of interstitial fibrosis and/or replacement fibr...

Procollagen type I carboxy-terminal propeptide (PICP) and MMP-2 are potential biomarkers of myocardial fibrosis in patients with hypertrophic cardiomyopathy.

Whether current proposed biomarkers of myocardial fibrosis (BMFs) actually reflect the changes in fibrous characteristics of myocardial tissue remains unclear. The relation between peripheral BMFs and...

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype...

Clinical Trials [6540 Associated Clinical Trials listed on BioPortfolio]

Hypertrophic Cardiomyopathy Pilot Study

This study evaluates mechanisms of arrhythmogenicity in hypertrophic cardiomyopathy, in comparison to patients with well-understood arrhythmogenic substrate (ischemic cardiomyopathy), as w...

Study of Myocardial Deformation Parameters in Patients With Hypertrophic Cardiomyopathy

The purpose of the study is to investigate the potential correlations of global longitudinal strain and peak left atrial strain, measured by speckle tracking echocardiography with the seve...

Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation

The study aims at searching for a genotype-phenotype correlation in patients with a genetic pathology of the ocular surface, in order to identify genetic abnormalities associated with the ...

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

The purpose of this trial is to study the genetic and phenotypic aspects of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), and determine the impact of genetic testing ...

Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic Cardiomyopathy

Fibrosis, myocardial deformation and biomarkers in hypertrophic cardiomyopathy (HCM)

Medical and Biotech [MESH] Definitions

A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

The totality of characteristics of reproductive structure, functions, PHENOTYPE, and GENOTYPE, differentiating the MALE from the FEMALE organism.

A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.

A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).

Quick Search

DeepDyve research library

Searches Linking to this Article