Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy
(ACM) is essential due to their diagnostic implications. New data may relabel previous …

Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is
elusive in about 50–70% of cases. ACM presents a variable disease course which could be …

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by
ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous …

Background Accurate interpretation of rare genetic variants is a challenge for clinical
translation. Updates in recommendations for rare variant classification require the reanalysis …

Advances in DNA sequencing have made large, diagnostic gene panels affordable and
efficient. Broad adoption of such panels has begun to deliver on the promises of …

There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …

Phenotype is defined as a set of observable characteristics of an individual resulting from
the interaction of their genotype with the environment. It differs from 'disease'in that it does …

Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease characterized by a scarred
ventricular myocardium with a distinctive propensity to ventricular arrhythmias (VAs) and …

Background Clinical research on arrhythmogenic cardiomyopathy (ACM) is typically limited
by small patient numbers, retrospective study designs, and inconsistent definitions. Aim To …

Recent studies have identified novel causes of ACM providing new insights into the genetic
spectrum of the disease and highlighting an overlapping phenotype between ACM and …