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Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review

Riccardo Bariani1, Ilaria Rigato2, Marco Cason1

  • 1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, Italy.

Journal of Clinical Medicine
|July 27, 2022
PubMed

Insights

Arrhythmogenic left ventricular cardiomyopathy (ALVC) is linked to genes like DSP and FLNC. Patients often show ECG abnormalities, electrical instability requiring ICDs, and myocarditis-like episodes.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) has a variant with primary left ventricular (LV) impact, termed Arrhythmogenic Left Ventricular Cardiomyopathy (ALVC).
  • Key genes implicated in ALVC include Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN), and Desmin (DES).

Purpose of the Study:

  • To critically review and assess current knowledge on the genetic underpinnings and clinical manifestations of ALVC.
  • To synthesize findings from a systematic literature search updated to April 2022.

Main Methods:

  • A systematic literature search was conducted across PubMed, Scopus, and Web of Science databases.
  • Search terms included "arrhythmogenic left ventricular cardiomyopathy", "arrhythmogenic cardiomyopathy", "gene", "arrhythmogenic dysplasia".

Main Results:

  • Desmoplakin (DSP) was the most frequent disease-gene, identified in 50% of ALVC cases, followed by Filamin C (FLNC).
  • ECG abnormalities were present in 58% of patients, with 26% experiencing major ventricular arrhythmias, necessitating ICD implantation in 29%.
  • Heart failure symptoms occurred in 6% of patients, and 15% presented with myocarditis-like episodes.

Conclusions:

  • DSP is the predominant genetic cause of ALVC.
  • ALVC patients exhibit significant electrical instability, often requiring implantable cardioverter-defibrillator (ICD) therapy.
  • Myocarditis-like episodes are a common clinical feature in ALVC.

Keywords:
DesminDesmoplakinFilamin-CPhospholambanarrhythmogenic left ventricular cardiomyopathy

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