Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

Publication Date: May 13, 2019
Last Updated: December 15, 2022

Diagnosis

Who to Study

For individuals and decedents with either a clinical or necropsy diagnosis of ACM, genetic testing of the established ACM-susceptibility genes is recommended. (I, C-EO)
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For genetic testing of the established ACM-susceptibility genes, comprehensive analysis of all established genes with full coverage is recommended. (I, C-EO)
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Treatment

Limitations of genetic testing 

The interpretation of a cardiac genetic test by a team of providers with expertise in genetics and cardiology can be useful. (IIa, C-EO)
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Family history

It is recommended that a genetic counselor or appropriately experienced clinician obtain a comprehensive 3-generation family history. (I, C-EO)
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Age-related penetrance of disease in at-risk relatives

It is recommended that first-degree relatives undergo clinical evaluation every 1-3 years starting at 10-12 years of age. (I, B-NR)
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Cardiovascular evaluation should include 12-lead ECG, ambulatory ECG, and cardiac imaging. (I, B-NR)
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Cascade cardiac investigations

Exercise stress testing (arrhythmia provocation) may be considered as a useful adjunct to cardiovascular evaluation. (IIb, C-LD)
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Cascade genetic testing

In families with a variant classified as pathogenic, it may be reasonable for asymptomatic members of a family who do not have the familial variant and have a normal cardiovascular evaluation to be released from regular screening and educated to return if disease symptoms occur. (IIb, C-EO)
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Risk stratification and ICD decisions

The decision to implant an ICD in an individual with ACM should be a shared decision between the patient and the physician, taking into account the risks and benefits of the ICD over the potential longevity of the patient. (I, C-EO)
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In individuals with ACM who have suffered a cardiac arrest with VT or VF an ICD is recommended. (I, B-NR)
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In individuals with ACM who have sustained VT not hemodynamically tolerated, an ICD is recommended. (I, B-NR)
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In individuals with ACM and syncope suspected to be due to a ventricular arrhythmia, an ICD is reasonable. (IIa, B-NR)
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In individuals with ARVC with hemodynamically tolerated sustained VT, an ICD is reasonable. (IIa, B-NR)
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ICD implantation is reasonable for individuals with ARVCa and three major, two major and two minor, or one major and four minor risk factors for ventricular arrhythmia. (IIa, B-NR)
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ICD implantation may be reasonable for individuals with ARVCa and two major, one major and two minor, or four minor risk factors for ventricular arrhythmia. (IIb, B-NR)
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In individuals with ACM with LVEF 35% or lower and NYHA class II-III symptoms and an expected meaningful survival of greater than 1 year, an ICD is recommended. (I, B-R)
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In individuals with ACM with LVEF 35% or lower and NYHA class I symptoms and an expected meaningful survival of greater than 1 year, an ICD is reasonable. (IIa, B-R)
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In individuals with ACM (other than ARVC) and hemodynamically tolerated VT, an ICD is recommended. (I, B-NR)
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In individuals with phospholamban cardiomyopathy and LVEF <45% or NSVT, an ICD is reasonable. (IIa, B-NR)
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In individuals with lamin A/C ACM and two or more of the following: LVEF<45%, NSVT, male sex, an ICD is reasonable. (IIa, B-NR)
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In individuals with FLNC ACM and an LVEF <45%, an ICD is reasonable. (IIa, C-LD)
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In individuals with lamin A/C ACM and an indication for pacing, an ICD with pacing capabilities is reasonable. (IIa, C-LD)
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Major criteria: aNSVT, inducibility to VT at EPS, LVEF ≤49%. Minor criteria: male sex, >1000 PVCs/24 h, right ventricular dysfunction (as per major criteria of the 2010 Task Force Criteria, see Figure 5), proband status, two or more desmosomal variants. If both NSVT and PVC criteria are present, then only NSVT can be used.

Prevention

Medical therapies for right ventricular failure

In individuals with ACM and symptomatic right ventricular dysfunction, the use of ACE inhibitors or ARBs, as well as betablockers, aldosterone antagonists, and diuretics, is reasonable. (IIa, C-EO)
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In symptomatic individuals with ACM and right ventricular dysfunction, the use of isosorbide dinitrate to reduce preload may be considered. (IIb, C-EO)
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Antithrombotic therapy in ACM

For individuals with ACM, in the presence of atrial fibrillation, intracavitary thrombosis or venous/systemic thromboembolism, anticoagulant therapy is recommended. (I, B-NR)
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Antithrombotic therapy may be reasonable in individuals with left or right ventricular aneurysm. (IIb, C-EO)
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Arrhythmia management

Beta-blocker therapy is recommended in individuals with ACM with inappropriate ICD interventions resulting from sinus tachycardia, supraventricular tachycardia, or atrial fibrillation/ flutter with high ventricular rate. (I, C-LD)
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Beta-blocker therapy is reasonable in individuals with ACM who do not have an ICD. (IIa, C-EO)
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  • Amiodarone
(IIb, B-NR)
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  • and sotalol
(IIb, C-LD)
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may be reasonable in individuals with ACM for control of arrhythmic C-LD symptoms or to reduce ICD shocks.
Flecainide in combination with beta-blockers and in the absence of other antiarrhythmic drugs may be reasonable in individuals with ACM, an ICD, and preserved left and right ventricular function for control of ventricular arrhythmias that are refractory to other therapies. (IIb, C-LD)
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Role of catheter ablation

In individuals with ACM and recurrent sustained monomorphic VT who have failed or are intolerant of amiodarone, catheter ablation is reasonable for reducing recurrent VT and ICD shocks. (IIa, B-NR)
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In individuals with ACM and recurrent symptomatic sustained VT in whom antiarrhythmic medications are ineffective or not tolerated, catheter ablation with availability of a combined endocardial/epicardial approach is reasonable. (IIa, B-NR)
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In symptomatic individuals with ACM and a high burden of ventricular ectopy or nonsustained VT in whom beta-blockers and/or antiarrhythmic medications are ineffective or not tolerated, catheter ablation with availability of a combined endocardial/epicardial approach is reasonable. (IIa, C-EO)
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Individuals with ACM and recurrent symptomatic sustained VT in whom medical therapy has not failed may be considered for catheter ablation. (IIb, C-LD)
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Prevention of Disease Progression

Exercise and other ACM

Clinicians should counsel adolescent and adult individuals with a positive genetic test for ARVC but who are phenotype negative that competitive or frequent high-intensity endurance exercise is associated with increased likelihood of developing ARVC and ventricular arrhythmias. (I, B-NR)
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Individuals with ARVC should not participate in competitive or frequent high-intensity endurance exercise as this is associated with increased risk of ventricular arrhythmias and promoting progression of structural disease. (III - Harm, B-NR)
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Amyloidosis

In both symptomatic and asymptomatic individuals with cardiac amyloidosis and second-degree AV block type II, high-grade AV block or third-degree AV block, a permanent pacemaker is recommended. (I, B-NR)
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In individuals with cardiac amyloidosis who have survived a cardiac arrest, an ICD is recommended if meaningful survival greater than 1 year is expected. (I, C-EO)
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In individuals with cardiac amyloidosis, the use of digoxin may be considered if used with caution due to the high risk of toxicity. (IIb, B-NR)
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In individuals with cardiac amyloidosis and symptomatic atrial arrhythmias, the use of sotalol, dofetilide, or amiodarone may be considered. (IIb, C-EO)
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In individuals with AL-type cardiac amyloidosis with nonsustained ventricular arrhythmias, a prophylactic ICD may be considered if meaningful survival greater than 1 year is expected. (IIb, B-NR)
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In individuals with cardiac amyloidosis and symptomatic atrial arrhythmias, cardiac ablation may be considered. (IIb, C-LD)
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Left ventricular noncompaction treatment

If the proband has a disease-causing gene variant, it is recommended that first-degree relatives of individuals with LVNC undergo clinical screening for the disease along with genetic counseling and genetic testing. (I, B-NR)
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In individuals with the clinical diagnosis of pathologic LVNC, genetic counseling and genetic testing is reasonable for diagnosis and for gene-specific targeted cascade family screening. (IIa, B-NR)
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ICD implantation is recommended for individuals with LVNC and evidence of ventricular tachyarrhythmias associated with syncope or resuscitated sudden death if meaningful survival greater than 1 year is expected. (I, B-NR)
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ICD implantation is reasonable for individuals with LVNC and evidence of nonsustained VT associated with a reduced ejection fraction. (IIa, B-NR)
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Anticoagulation is recommended in individuals with LVNC with atrial fibrillation and in those with previous embolic events. (I, B-NR)
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Anticoagulation may be reasonable in individuals with LVNC with evidence of ventricular dysfunction. (IIb, B-NR)
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In individuals with suspected LVNC, the diagnostic criteria by echocardiography or cardiac MRI, measured as the maximal ratio of noncompaction to compaction (NC/C), may be reasonable for establishing a diagnosis. (IIb, B-NR)
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In individuals with suspected LVNC and ventricular arrhythmias, cardiac MRI or other advanced cardiac imaging may be reasonable for establishing a diagnosis and for risk stratification. (IIb, B-NR)
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Recommendation Grading

Overview

Title

Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

Authoring Organization

Heart Rhythm Society

Publication Month/Year

May 13, 2019

Last Updated Month/Year

November 5, 2024

Supplemental Implementation Tools

Document Type

Consensus

External Publication Status

In_development

Country of Publication

US

Document Objectives

This international consensus statement is intended to help cardiologists and other health care professionals involved in the care of adult and pediatric patients with arrhythmogenic cardiomyopathy (ACM), which encompasses a broad range of disorders, by providing recommendations for evaluation and management and supporting shared decision making between health care providers and patients in a document format that is also useful at the point of care.

Target Patient Population

Adult and pediatric patients with arrhythmogenic cardiomyopathy (ACM)

Target Provider Population

Cardiologists and other health care professionals involved in the care of adult and pediatric patients with arrhythmogenic cardiomyopathy (ACM)

PICO Questions

  1. Should a family member who is mutation-positive but phenotype-negative be restricted from strenuous exercise to prevent arrhythmogenic right ventricular cardiomyopathy (ARVC) disease expression?

  2. Should patients who meet Task Force Criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC), regardless of symptoms or disease severity, be restricted from strenuous exercise, compared to no restriction, to prevent ventricular tachycardia (VT) or ventricular fibrillation (VF)?

  3. Should patients who meet Task Force Criteria for the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC), regardless of symptoms or disease severity, be restricted from strenuous exercise, compared to no restriction, to prevent progression of right ventricular (RV) or left ventricular (LV) dysfunction?

Inclusion Criteria

Male, Female, Adult, Older adult

Health Care Settings

Ambulatory, Hospital

Intended Users

Nurse, nurse practitioner, physician, physician assistant

Scope

Diagnosis, Assessment and screening, Management

Diseases/Conditions (MeSH)

D019571 - Arrhythmogenic Right Ventricular Dysplasia, D056830 - Isolated Noncompaction of the Ventricular Myocardium, D012507 - Sarcoidosis

Keywords

arrhythmogenic cardiomyopathy, catheter ablation, exercise restriction, genetic testing, ICD decisions, left ventricular noncompaction, treatment of arrhythmogenic cardiomyopathy

Source Citation

Towbin JA et al. 2019 HRS Expert Consensus Statement on Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy