Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy

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Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy. / Vimalanathan, Anita Kiran; Ehler, Elisabeth; Gehmlich, Katja.

In: Biophysical Reviews, Vol. 10, No. 4, 01.08.2018, p. 973-982.

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Vimalanathan, Anita Kiran ; Ehler, Elisabeth ; Gehmlich, Katja. / Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy. In: Biophysical Reviews. 2018 ; Vol. 10, No. 4. pp. 973-982.

Bibtex

@article{ab1d41b2a46d44d2a79cac5e2c30f093,
title = "Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy",
abstract = "Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways. Mutated desmosomal proteins are thought to cause detachment of cardiac myocytes by the loss of cellular adhesions and also affect signalling pathways, leading to cell death and substitution by fibrofatty adipocytic tissue. However, mutations in desmosomal proteins are not the sole cause for ARVC as mutations in non-desmosomal genes were also implicated in its pathogenesis. This review will consider the pathology, genetic basis and mechanisms of pathogenesis for ARVC.",
keywords = "Desmosomes, Arrhythmogenic right ventricular cardiomyopathy, Desmoglein, Desmocollin, Desmoplakin, Plakoglobin, Plakophilin, Sudden cardiac death",
author = "Vimalanathan, {Anita Kiran} and Elisabeth Ehler and Katja Gehmlich",
year = "2018",
month = aug,
day = "1",
doi = "10.1007/s12551-018-0437-0",
language = "English",
volume = "10",
pages = "973--982",
journal = "Biophysical Reviews",
issn = "1867-2450",
publisher = "Springer",
number = "4",

}

RIS

TY - JOUR

T1 - Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy

AU - Vimalanathan, Anita Kiran

AU - Ehler, Elisabeth

AU - Gehmlich, Katja

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways. Mutated desmosomal proteins are thought to cause detachment of cardiac myocytes by the loss of cellular adhesions and also affect signalling pathways, leading to cell death and substitution by fibrofatty adipocytic tissue. However, mutations in desmosomal proteins are not the sole cause for ARVC as mutations in non-desmosomal genes were also implicated in its pathogenesis. This review will consider the pathology, genetic basis and mechanisms of pathogenesis for ARVC.

AB - Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways. Mutated desmosomal proteins are thought to cause detachment of cardiac myocytes by the loss of cellular adhesions and also affect signalling pathways, leading to cell death and substitution by fibrofatty adipocytic tissue. However, mutations in desmosomal proteins are not the sole cause for ARVC as mutations in non-desmosomal genes were also implicated in its pathogenesis. This review will consider the pathology, genetic basis and mechanisms of pathogenesis for ARVC.

KW - Desmosomes

KW - Arrhythmogenic right ventricular cardiomyopathy

KW - Desmoglein

KW - Desmocollin

KW - Desmoplakin

KW - Plakoglobin

KW - Plakophilin

KW - Sudden cardiac death

U2 - 10.1007/s12551-018-0437-0

DO - 10.1007/s12551-018-0437-0

M3 - Review article

C2 - 29995277

VL - 10

SP - 973

EP - 982

JO - Biophysical Reviews

JF - Biophysical Reviews

SN - 1867-2450

IS - 4

ER -