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April 28, 2015EP EuropaceOpen Access

Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy

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Key result

Various non-mutually exclusive pathogenetic mechanisms, including inflammatory, apoptotic, and genetic factors such as desmosomal mutations, appear to underlie arrhythmogenic right ventricular cardiomyopathy.

Design

Review

Authors

DQDongdong QueZhujiang HospitalPYPingzhen YangZhujiang HospitalXSXudong SongHuaian First People’s Hospital

Discussion

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Implication

ARVC pathogenesis appears multifactorial; leaves open mechanism-specific therapies pending prospective validation.

Key Points

  • To review and contrast classical pathogenetic theories with emerging genetic mechanisms underlying arrhythmogenic right ventricular cardiomyopathy.
  • Synthesized findings from historical and contemporary literature addressing arrhythmogenic right ventricular cardiomyopathy (ARVC) pathology.
  • Evaluated classical inflammatory and apoptotic disease hypotheses alongside advances in desmosomal genetic sequencing.
  • Identified desmosomal mutations as a primary driver of familial and autosomal dominant disease transmission, though mutations alone do not explain all presentations.
  • Established that historical models of inflammation and apoptosis act alongside genetic defects, showing that multiple non-mutually exclusive pathways drive progressive fibrofatty replacement.

PICO

P
Population
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
E
Exposure / Comparator
Traditional vs. genetic pathogenesis

This review highlights that ARVC pathogenesis is multifactorial, involving both traditional inflammatory/apoptotic pathways and genetic mechanisms like desmosomal mutations.

Cite This Study

Que et al. (2015) conducted a review in Arrhythmogenic right ventricular cardiomyopathy (ARVC). Traditional vs. genetic pathogenesis was evaluated. Various non-mutually exclusive pathogenetic mechanisms, including inflammatory, apoptotic, and genetic factors such as desmosomal mutations, appear to underlie arrhythmogenic right ventricular cardiomyopathy.

synapsesocial.com/papers/6a1f2eda0a715b28e072a8dbhttps://doi.org/10.1093/europace/euv042

Topics

Myocarditis
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Also Consider

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  1. 1The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q241994 · 337 citations
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  4. 4Genetics of arrhythmogenic right ventricular cardiomyopathy2002 · 41 citations
  5. 5Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy2012 · 68 citations