Why the study?
The 2010 International Task Force criteria exclusively addressed right-dominant manifestations of ACM, prompting updated criteria to diagnose the full spectrum including left-sided variants.
This review summarizes the genotype-phenotype correlations and the new 'Padua Criteria' for diagnosing left-dominant and biventricular variants of arrhythmogenic cardiomyopathy.
May inform diagnosis of left-dominant arrhythmogenic cardiomyopathy via Padua Criteria and CMR; leaves open prospective validation.
Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by loss of ventricular myocardium and fibrofatty replacement, which predisposes to scar-related ventricular arrhythmias and sudden cardiac death, particularly in the young and athletes. Although in its original description the disease was characterized by an exclusive or at least predominant right ventricle (RV) involvement, it has been demonstrated that the fibrofatty scar can also localize in the left ventricle (LV), with the LV lesion that can equalize or even overcome that of the RV. While the right-dominant form is typically associated with mutations in genes encoding for desmosomal proteins, other (non-desmosomal) mutations have been showed to cause the biventricular and left-dominant variants. This has led to a critical evaluation of the 2010 International Task Force criteria, which exclusively addressed the right phenotypic manifestations of ACM. An International Expert consensus document has been recently developed to provide upgraded criteria ("the Padua Criteria") for the diagnosis of the whole spectrum of ACM phenotypes, particularly left-dominant forms, highlighting the use of cardiac magnetic resonance. This review aims to offer an overview of the current knowledge on the genetic basis, the phenotypic expressions, and the diagnosis of left-sided variants, both biventricular and left-dominant, of ACM.
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Mattesi et al. (2021) studied this question.
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