Key result
DSP variants dominate arrhythmogenic left ventricular cardiomyopathy, marked by ICD implantation in ~29% of patients.
Why the study?
To assess the level of knowledge on the genetic background and clinical features of arrhythmogenic left ventricular cardiomyopathy.
Systematic Review
ALVC is a distinct phenotypic variant of arrhythmogenic cardiomyopathy predominantly associated with DSP mutations and characterized by a high degree of electrical instability and recurrent myocarditis-like episodes.
DSP screening and ICD risk assessment merit priority in ALVC; confirms DSP predominance with high electrical instability across aggregated reports.
In recent years a phenotypic variant of Arrhythmogenic cardiomyopathy has been described, characterized by predominant left ventricular (LV) involvement with no or minor right ventricular abnormalities, referred to as Arrhythmogenic left ventricular cardiomyopathy (ALVC). Different disease-genes have been identified in this form, such as Desmoplakin (DSP), Filamin C (FLNC), Phospholamban (PLN) and Desmin (DES). The main purpose of this critical systematic review was to assess the level of knowledge on genetic background and clinical features of ALVC. A search (updated to April 2022) was run in the PubMed, Scopus, and Web of Science electronic databases. The search terms used were "arrhythmogenic left ventricular cardiomyopathy" OR "arrhythmogenic cardiomyopathy" and "gene" OR "arrhythmogenic dysplasia" and "gene". The most represented disease-gene turned out to be DSP, accounting for half of published cases, followed by FLNC. Overall, ECG abnormalities were reported in 58% of patients. Major ventricular arrhythmias were recorded in 26% of cases; an ICD was implanted in 29% of patients. A total of 6% of patients showed heart failure symptoms, and 15% had myocarditis-like episodes. DSP is confirmed to be the most represented disease-gene in ALVC patients. An analysis of reported clinical features of ALVC patients show an important degree of electrical instability, which frequently required an ICD implant. Moreover, myocarditis-like episodes are common.
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Bariani et al. (2022) conducted a systematic review in Arrhythmogenic left ventricular cardiomyopathy (ALVC). Arrhythmogenic left ventricular cardiomyopathy (ALVC) associated genetic variants was evaluated on Genetic background and clinical features (including ECG abnormalities, ventricular arrhythmias, heart failure, and myocarditis-like episodes). Desmoplakin (DSP) is the most represented disease-gene in ALVC patients, who frequently present with significant electrical instability requiring an ICD implant (29%) and myocarditis-like episodes (15%).
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