Arrhythmogenic cardiomyopathy (ACM) is now commonly used to describe any form of non-hypertrophic,
progressive cardiomyopathy characterised by fibrofatty infiltration of the ventricular
myocardium. Right ventricular (RV) involvement refers to the classical arrhythmogenic
right ventricular cardiomyopathy, but left ventricular, or bi-ventricular involvement
are now recognised. ACM is mostly hereditary and associated with mutations in genes
encoding proteins of the intercalated disc. ACM classically manifests as ventricular
arrhythmias, and sudden death may be the first presentation of the disease. Heart
failure is seen with advanced stages of the disease. Diagnosis can be challenging
due to variable expressivity and incomplete penetrance, and is guided by established
Taskforce criteria that incorporate electrical features (12-lead electrocardiography
(ECG), features of ventricular arrhythmias), structural features (on imaging via echo
and cardiac magnetic resonance imaging [MRI]), tissue characteristics (via biopsy),
and familial/genetic evaluation. Electrical abnormalities may precede structural alterations,
which also make diagnosis challenging, especially in differentiating ACM from other
conditions such as benign right ventricular arrhythmias, channelopathies such as Brugada,
or the Athlete’s Heart. Genetic testing is critical in identifying familial mutations
and initiating cascade testing, but finds a pathogenic mutation in only ∼50% of patients.
Some critical genotype-phenotype correlations do exist and may help guide risk stratification
and give clues to disease progression. Therapeutic strategies include restriction
from high endurance and competitive sports, ß-blockers, antiarrhythmic drugs, heart
failure medications, implantable cardioverter-defibrillators and combined endocardial/epicardial
catheter ablation. Ablation has emerged as the treatment of choice for recurrent ventricular
arrhythmias in ACM. This state-of-the-art review outlines the pathogenesis, diagnosis
and treatment of ACM in the contemporary era.
Abbreviations:
ACE-I (angiotensin-converting-enzyme inhibitors), ACM (arrhythmogenic cardiomyopathy), ARB (angiotensin II receptor blockers), ARVC (arrhythmogenic right ventricular cardiomyopathy), CA (catheter ablation), EF (ejection fraction), HF (heart failure), ICD (implanted cardioverter defibrillator), LB (left bundle), LGE (late gadolinium enhancement), LV (left ventricle), mV (millivolts), RB (right bundle), RBBB (right bundle branch block), RV (right ventricle), RVOT (right ventricular outflow tract), SCD (sudden cardiac death), TFC (Taskforce criteria), TWI (T wave inversions), VA (ventricular arrhythmia), VT (ventricular tachycardia), VF (ventricular fibrillation)Keywords
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Article info
Publication history
Published online: October 23, 2018
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Crown Copyright © 2018 Published by Elsevier B.V. on behalf of Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.
