Arrhythmogenic right ventricular cardiomyopathy: a focused update on diagnosis and risk stratification

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterised by fibrofatty replacement of predominantly the right ventricle and high risk of ventricular arrhythmias and sudden cardiac death (SCD). Early diagnosis and accurate risk assessment are challenging yet essential for SCD prevention. This manuscript summarises the current state of the art on ARVC diagnosis and risk stratification. Improving the 2010 diagnostic criteria is an ongoing discussion. Several studies suggest that early diagnosis may be facilitated by including deformation imaging (‘strain’) for objective assessment of wall motion abnormalities, which was shown to have high sensitivity for preclinical disease. Adding fibrofatty replacement detected by late gadolinium enhancement or T1 mapping in cardiac MRI as criterion for diagnosis is increasingly suggested but requires more supporting evidence from consecutive patient cohorts. In addition to the traditional right-dominant ARVC, standard criteria for arrhythmogenic cardiomyopathy (ACM) and arrhythmogenic left ventricular cardiomyopathy (ALVC) are on the horizon. After diagnosis confirmation, the primary management goal is SCD prevention, for which an implantable cardioverter-defibrillator is the only proven therapy. Prior studies determined that younger age, male sex, previous (non-) sustained ventricular tachycardia, syncope, extent of T-wave inversion, frequent premature ectopic beats and lower biventricular ejection fraction are risk factors for subsequent events. Previous implantable cardioverter-defibrillator indication guidelines were however limited to three expert-opinion flow charts stratifying patients in risk groups. Now, two multivariable risk prediction models (arvcrisk.com) combine the abovementioned risk factors to estimate individual risks. Of note, both the flow charts and prediction models require clinical validation studies to determine which should be recommended.

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

“…The frequency of pathogenic/likely pathogenic variants in ACM-associated genes of our cohort is relatively low (23%) compared with other described ACM populations. However, the adjudication approaches are really variable among different cohorts [ 6 , 26 , 27 , 28 ], and we used a stringent variant classification based on ACMG/AMP guidelines.…”

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

“…Genetic counseling and testing are performed according to previously published recommendations [23]. Cardiological follow-ups and treatment are continued according to the different clinical guidelines or recommendations, respectively [1,[24][25][26][27]. The reclassification of a variant will most likely have no direct consequence on the clinical treatment of our index patients since the recommendations are primarily based on clinical findings.…”

Cardiac magnetic resonance imaging of arrhythmogenic cardiomyopathy: evolving diagnostic perspectives

“…Native T1 mapping and extra-cellular volume (ECV) quantification are useful imaging techniques able to identify an increase of interstitial space, due to diffuse fibrosis or infiltration, particularly helpful in the differential diagnosis of cardiomyopathies with hypertrophic phenotype [59]. Although myocardial fibrofatty lesions in ACM are more commonly described as focal abnormalities, the diagnostic yield of native T1 mapping has been recently investigated also in these patients [60]. Bourfiss et al studied native T1 mapping and its dispersion in genotype-positive ACM patients, relatives, and controls and found that genotypepositive ACM patients had significantly higher native T1 values than controls, suggesting a predominant role of LV replacement fibrosis rather than fat infiltration (that usually reduces T1 values) in ACM pathogenesis.…”