# Arrhythmogenic Right Ventricular Cardiomyopathy

Diagnose ARVC by integrating ventricular arrhythmia phenotype, ECG, quantitative right-ventricular imaging, and family or genetic data; then reduce exercise exposure, assess individualized ventricular-arrhythmia risk, and select ICD-based prevention for patients whose projected risk justifies device morbidity.

**Clinical question:** How should physicians confirm ARVC, distinguish phenocopies, and select patients for arrhythmia prevention and ICD therapy?

Updated: 2026-09-15T22:34:24.092185+00:00

## What matters in practice
- Do not diagnose ARVC from isolated RV dilation, T-wave inversion, PVCs, or a genetic variant; apply a multiparametric framework integrating ECG, ambulatory rhythm data, imaging, and family/genetic information. [2][22]
- For the classical RV phenotype, CMR structural criteria require regional RV akinesia, dyskinesia, or dyssynchronous contraction plus sex-specific RVEDV index or RVEF thresholds. [14][15]
- CMR and genetics broaden evaluation beyond classical ARVC because biventricular and left-dominant arrhythmogenic cardiomyopathy may present with early LV involvement and may not be adequately captured by the 2010 Task Force criteria. [1][2][6][21]
- Counsel patients with established ARVC and at-risk desmosomal variant carriers to avoid endurance exercise; exercise is associated with earlier symptoms and a greater likelihood of overt disease expression. [5][7]
- For patients without prior sustained ventricular arrhythmia, use individualized risk prediction to support shared ICD decisions; in one validation cohort, the 5-year ventricular-arrhythmia event rate was 24%. [23]

## Identify patients needing urgent arrhythmia evaluation

Prioritize arrhythmia stabilization before completing phenotype classification.

Treat sustained ventricular tachycardia, ventricular fibrillation, or syncope suspected to be arrhythmic as an urgent electrophysiology problem. ARVC commonly presents through PVCs, nonsustained or sustained VT, or ventricular fibrillation; advanced disease may instead declare itself through exertional dyspnea or volume overload. [22]

Refer promptly to an inherited cardiomyopathy or electrophysiology program when a patient has ventricular arrhythmias with RV-predominant structural abnormalities, right-precordial repolarization abnormalities, a first-degree relative with ARVC, or a pathogenic/likely pathogenic variant in an ARVC-associated gene. The diagnostic process requires integration of ECG, ambulatory monitoring, echocardiography, CMR, genetic testing, and selected family data; endomyocardial biopsy is rarely required. [22]

Do not use routine electrophysiology testing to establish ARVC. Reserve invasive EP study for VT ablation planning or performance in conjunction with ablation rather than as a general diagnostic test. [22]
- Obtain a 12-lead ECG and ambulatory rhythm monitoring to document ventricular ectopy, nonsustained VT, or sustained VT. [22]
- Perform transthoracic echocardiography and CMR when the clinical phenotype raises ARVC concern; use both ventricular assessment and tissue characterization to detect biventricular or LV-predominant disease. [1][21][22]
- Obtain a three-generation family history focused on cardiomyopathy, unexplained sudden death, ventricular arrhythmia, and exercise-associated collapse; pair this with genetic counseling before germline testing. [22][24]

*Immediate actions by presentation pattern. [22]*

| Presentation | Next action | Reason it changes management |
| --- | --- | --- |
| Sustained VT, ventricular fibrillation, or probable arrhythmic syncope | Urgent electrophysiology evaluation and structural assessment with echocardiography and CMR. [22] | These events identify a potentially malignant ventricular-arrhythmia presentation. [22] |
| Frequent PVCs or nonsustained VT with RV abnormality | Obtain 12-lead ECG, ambulatory monitoring, echocardiography, and CMR; assess family history and consider genetic testing. [22] | ARVC diagnosis depends on combined electrical, structural, and genetic/familial evidence. [2][22] |
| Asymptomatic relative or genotype-positive individual | Provide inherited-cardiomyopathy counseling and phenotype evaluation rather than diagnosing disease from genotype alone. [8][22][24] | Penetrance is lower in genomic screening populations than in clinically ascertained disease cohorts. [8] |

## Apply a multiparametric ARVC diagnostic framework

Use the 2010 modified Task Force approach for the classical RV phenotype.

The 2010 modified Task Force Criteria organize evidence across RV structural or functional abnormalities, repolarization and depolarization abnormalities, ventricular arrhythmias, tissue characterization, and family history or genetics. A single feature has limited diagnostic accuracy; diagnosis relies on concordant abnormalities across domains. [2][22]

For classical ARVC, the ACC summary describes a point-based approach in which definite disease is assigned at 4 points and probable disease at 3 points. Apply this framework only after ensuring that the phenotype is not better explained by acquired RV remodeling, another cardiomyopathy, congenital disease, ischemia, sarcoidosis, or myocarditis. [22]

Recognize the limitation of a purely RV-centered framework. The 2010 criteria have reduced sensitivity for left-sided ACM variants and do not incorporate CMR late gadolinium enhancement, whereas contemporary Padua criteria recognize right-dominant, left-dominant, and biventricular ACM. In a patient with LV scar or dysfunction out of proportion to RV disease, broaden the diagnostic label and differential rather than excluding arrhythmogenic cardiomyopathy. [1][2][6][21]
- ECG: T-wave inversion in V1 through V3 or beyond in individuals older than 14 years without complete right bundle-branch block is a major repolarization criterion. [16]
- ECG: T-wave inversion confined to V1 through V2 without complete right bundle-branch block, or V1 through V4 with complete right bundle-branch block, is a minor criterion in individuals older than 14 years. [16]
- Imaging: interpret regional RV wall-motion abnormalities with quantitative RV size or systolic function; isolated qualitative or volumetric findings do not meet the cited CMR criterion. [14][15]
- Pathology: reserve endomyocardial biopsy for selected unresolved cases; sampling limitations and the availability of CMR make it uncommon in routine evaluation. [21][22]

*RV imaging thresholds used in modified Task Force structural criteria. [14][15]*

| Modality | Major criterion | Minor criterion |
| --- | --- | --- |
| CMR | Regional RV akinesia, dyskinesia, or dyssynchronous contraction plus RVEDV index ≥110 mL/m² in men or ≥100 mL/m² in women, or RVEF ≤40%. [14][15] | Same regional abnormality plus RVEDV index 100 to <110 mL/m² in men or 90 to <100 mL/m² in women, or RVEF >40% to ≤45%. [15] |
| 2-dimensional echocardiography | Regional RV akinesia, dyskinesia, or aneurysm plus PLAX RVOT ≥32 mm or ≥19 mm/m², PSAX RVOT ≥36 mm or ≥21 mm/m², or RV fractional area change ≤33%. [14] | Regional RV abnormality plus PLAX RVOT 29 to <32 mm, PSAX RVOT 32 to <36 mm, or fractional area change >33% to ≤40%. [15] |
| RV angiography | Regional RV akinesia, dyskinesia, or aneurysm. [14][15] | Not specified in the cited excerpt. |

## Use CMR to separate classical ARVC from biventricular and acquired phenocopies

CMR should answer both phenotype and alternative-diagnosis questions.

Order CMR when echocardiography or arrhythmia findings suggest ARVC, when the RV is poorly characterized by echo, or when LV involvement is suspected. In pediatric evaluation using revised Task Force Criteria, CMR made the largest contribution among major criteria; regional wall-motion abnormalities were much more prevalent in definite than in no-ARVC groups. [3]

Assess both ventricles for regional wall-motion abnormality, RV volumes and ejection fraction, LV function, and late gadolinium enhancement. LV involvement in ARVC is common and may occur earlier than previously recognized; biventricular and left-dominant variants can resemble dilated cardiomyopathy. [1][6][21]

Treat marked athletic exposure as a diagnostic confounder rather than presumptive inherited ARVC. Exercise-induced arrhythmogenic cardiomyopathy has been proposed in competitive endurance athletes with substantial cumulative exposure, ventricular arrhythmias, and no inherited/genetic factors or other evident cause. In one cohort, RV structure and function remained stable in exercise-induced disease but deteriorated during follow-up in genotype-positive ARVC; ventricular-arrhythmia incidence was similar at 5 and 10 years. [9]

When CMR shows predominant LV scar or a myocarditis-like clinical course, do not force a classical ARVC diagnosis. Contemporary outcomes data associate substantial LV involvement with more heart failure and myocarditis-like episodes, whereas right-dominant disease appears more arrhythmogenic. [6]
- Classical ARVC phenotype: RV regional dysfunction plus qualifying RV dilation or reduced RVEF supports the RV-centered Task Force structural domain. [14][15]
- Biventricular or LV-dominant phenotype: pursue contemporary ACM phenotyping when LV late gadolinium enhancement or LV dysfunction is prominent despite limited RV disease. [1][2][6][21]
- Endurance athlete phenotype: document training burden, family history, and genetic testing results; serial RV imaging may help distinguish stable exercise-associated remodeling from progressive inherited disease. [5][9]

*Phenotype patterns that redirect the diagnostic pathway. [1][2][6][9][21]*

| Pattern | Interpretation | Next step |
| --- | --- | --- |
| RV-predominant abnormalities meeting quantitative structural criteria | Supports classical ARVC when ECG, arrhythmic, and family/genetic domains are concordant. [2][14][15] | Complete multiparametric criteria assessment and ventricular-arrhythmia risk evaluation. [22][23] |
| Early or disproportionate LV involvement, including LV LGE | Consider biventricular or left-dominant ACM rather than relying only on RV-focused criteria. [1][2][6][21] | Use comprehensive biventricular CMR interpretation and inherited-cardiomyopathy evaluation. [21][22] |
| Competitive endurance athlete with ventricular arrhythmias and no inherited/genetic factors | Consider exercise-induced arrhythmogenic cardiomyopathy after excluding other causes. [9] | Document exercise burden, restrict endurance exposure, and use serial imaging and rhythm follow-up. [5][9] |

## Use genetic findings for cascade evaluation, not as a stand-alone diagnosis

Genotype modifies the pretest probability but does not substitute for phenotype assessment.

Offer genetic counseling and consider genetic testing in patients with suspected or established ARVC, particularly when there is a family history of inherited arrhythmia syndrome or arrhythmogenic cardiomyopathy. Desmosomal genes account for more than half of reported ARVC cases; commonly implicated genes include PKP2, DSP, DSG2, DSC2, and JUP, with non-desmosomal contributors including TMEM43, DES, PLN, TTN, and RYR2. [4][19][24]

Interpret pathogenic or likely pathogenic results in the clinical context. ARVC is incompletely penetrant, and penetrance is markedly lower among individuals identified through genomic screening than in disease-ascertained populations; a genotype-positive, phenotype-negative person should receive counseling and longitudinal clinical surveillance rather than automatic disease labeling or primary-prevention ICD implantation. [4][8]

For relatives, perform phenotype assessment with ECG, ambulatory rhythm monitoring, echocardiography, and CMR when indicated by the family phenotype or initial findings. The purpose is to identify electrical or structural expression early, recognizing that ARVC can involve both ventricles and that phenotype may evolve over time. [1][22][24]
- A positive result supports family cascade testing and targeted clinical evaluation. [22][24]
- A negative or uninformative genetic result does not exclude a clinical diagnosis when multiparametric ARVC criteria are met. [2][22]
- Counsel genotype-positive relatives that endurance exercise can increase disease expression in desmosomal mutation carriers. [5][7]

*Actionable interpretation of genetic results in suspected ARVC. [4][8][19][22][24]*

| Result | Clinical interpretation | Action |
| --- | --- | --- |
| Pathogenic or likely pathogenic variant with concordant phenotype | Strengthens inherited ARVC/ACM attribution. [4][19][22] | Evaluate relatives and incorporate phenotype, arrhythmia burden, and ventricular function into management. [22][24] |
| Pathogenic or likely pathogenic variant without phenotype | Indicates genetic susceptibility, not necessarily manifest cardiomyopathy, because penetrance is incomplete. [4][8] | Counsel, assess baseline phenotype, restrict endurance exercise exposure, and follow clinically. [5][7][22] |
| No causative variant identified | Does not negate a phenotype-based ARVC diagnosis. [2][22] | Continue diagnostic classification and family assessment according to clinical findings. [22] |

## Restrict endurance exercise and individualize ICD decisions

Reduce an important disease modifier while matching device therapy to arrhythmic risk.

Recommend avoidance of endurance sports and high-intensity sustained exercise in established ARVC and counsel genotype-positive desmosomal variant carriers similarly. Exercise is a disease modifier: individuals participating in endurance sports become symptomatic earlier and are more likely to develop overt disease expression. [5][7]

Use ICD therapy as the principal sudden-death prevention strategy for symptomatic and high-risk patients, while recognizing that antiarrhythmic drugs and catheter ablation are adjunctive strategies for recurrent ventricular arrhythmias rather than substitutes for risk-directed defibrillator protection. [18][22]

For patients diagnosed by 2010 Task Force Criteria who have not yet had a ventricular-arrhythmia event, incorporate the ARVCrisk calculator into shared decision-making. In a 429-patient validation cohort, 24% experienced a ventricular-arrhythmia event over 5 years, corresponding to an annual event rate of 5%; sudden cardiac arrest and sudden cardiac death occurred in 6.8% and 2.9%, respectively. The model showed a C-index of 0.70 and outperformed several guideline or consensus approaches in decision-curve analysis for ICD use. [23]

Discuss the tradeoff explicitly: a projected arrhythmic benefit must justify long-term ICD complications and treatment burden, especially in younger patients and those without prior sustained ventricular arrhythmia. Risk models refine but do not replace phenotype review, patient values, and specialist electrophysiology assessment. [23]
- Use catheter ablation when recurrent VT requires rhythm-control intervention; EP testing is most useful immediately before or with the ablation procedure. [18][22]
- Consider antiarrhythmic therapy as adjunctive ventricular-arrhythmia suppression in patients with ICDs and/or after ablation; a small retrospective series reported potential benefit from flecainide combined with sotalol or metoprolol after single-agent therapy and/or ablation failure. [18]
- In pregnancy, metoprolol, propranolol, nadolol, quinidine, and sotalol are considered safe by HRS guidance; mexiletine may be used with caution. [24]
- Monitor for progression of ventricular dysfunction and heart failure, particularly in biventricular disease; substantial LV involvement is associated with heart failure and myocarditis-like episodes. [6]

*Arrhythmia-management choices in ARVC. [18][22][23][24]*

| Clinical situation | Management direction | Important limitation |
| --- | --- | --- |
| Symptomatic or high-risk ARVC | Evaluate for ICD-based sudden-death prevention. [18][22] | Risk-benefit assessment remains individualized. [23] |
| No prior ventricular-arrhythmia event | Use ARVCrisk prediction with clinical review to inform primary-prevention ICD discussion. [23] | The model was validated in patients meeting 2010 Task Force Criteria and should not replace phenotype assessment. [23] |
| Recurrent VT despite initial treatment | Consider catheter ablation and adjunctive antiarrhythmic therapy. [18][22] | Ablation and drugs suppress arrhythmia but do not replace risk-directed ICD decisions. [18] |
| Pregnancy with arrhythmia requiring drug treatment | Consider metoprolol, propranolol, nadolol, quinidine, or sotalol; use mexiletine cautiously. [24] | Drug choice requires maternal arrhythmia indication and obstetric-cardiology oversight. [24] |

## References
1. Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy — www.ahajournals.org — https://www.ahajournals.org/doi/10.1161/JAHA.119.014628
2. Evolving Diagnostic Criteria for Arrhythmogenic Cardiomyopathy — www.ahajournals.org — https://www.ahajournals.org/doi/abs/10.1161/JAHA.121.021987
3. Importance of CMR Within the Task Force Criteria for the Diagnosis of ARVC in Children and Adolescents — www.jacc.org — https://www.jacc.org/doi/10.1016/j.jacc.2014.12.041
4. Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis | Scientific Reports — www.nature.com — https://www.nature.com/articles/srep41387
5. Arrhythmogenic Cardiomyopathy | Circulation Research — www.ahajournals.org — https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.309345?doi=10.1161%2FCIRCRESAHA.117.309345
6. Precision Phenotyping in Arrhythmogenic Cardiomyopathy: What’s in a Name?∗ — www.jacc.org — https://www.jacc.org/doi/10.1016/j.jacc.2024.01.007
7. Arrhythmogenic Cardiomyopathy — www.ahajournals.org — https://www.ahajournals.org/doi/abs/10.1161/circresaha.117.309345
8. Genome-First Arrhythmogenic Right Ventricular Cardiomyopathy ... — www.jacc.org — https://www.jacc.org/doi/10.1016/j.jacadv.2025.102464
9. Disease Progression in Exercise-Induced Arrhythmogenic Cardiomyopathy Compared With Arrhythmogenic Right Ventricular Cardiomyopathy — www.jacc.org — https://www.jacc.org/doi/10.1016/j.jcmg.2025.03.018
10. Treatment of arrhythmogenic right ventricular cardiomyopathy ... — academic.oup.com — https://academic.oup.com/eurheartj/article/36/46/3227/2398258
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14. Heart Right Ventricle Enddiastolic Volume - an overview | ScienceDirect Topics — www.sciencedirect.com — https://www.sciencedirect.com/topics/nursing-and-health-professions/heart-right-ventricle-enddiastolic-volume
15. Heart Right Ventricle Ejection Fraction - an overview — www.sciencedirect.com — https://www.sciencedirect.com/topics/nursing-and-health-professions/heart-right-ventricle-ejection-fraction
16. T Wave Inversion - an overview — www.sciencedirect.com — https://www.sciencedirect.com/topics/nursing-and-health-professions/t-wave-inversion
17. Arrhythmogenic right ventricular cardiomyopathy - Wiley Online Library — onlinelibrary.wiley.com — https://onlinelibrary.wiley.com/doi/full/10.1002/joa3.12012
18. Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy - ScienceDirect — www.sciencedirect.com — https://www.sciencedirect.com/science/article/abs/pii/S1547527116311663
19. Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management - Muller - 2025 - Journal of Cardiovascular Electrophysiology - Wiley Online Library — onlinelibrary.wiley.com — https://onlinelibrary.wiley.com/doi/10.1111/jce.16519
20. Arrhythmogenic right ventricular cardiomyopathy/Dysplasia (ARVC/D) — onlinelibrary.wiley.com — https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31368
21. Cardiac MRI in the Diagnosis of Arrhythmogenic Cardiomyopathy - American College of Cardiology — www.acc.org — https://www.acc.org/education-and-meetings/patient-case-quizzes/2026/05/05/16/43/cardiac-mri-in-the-diagnosis-of-arrhythmogenic-cardiomyopathy
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24. 2023 HRS Guidance on Management of Arrhythmias During Pregnancy: Key Points - American College of Cardiology — www.acc.org — https://www.acc.org/latest-in-cardiology/ten-points-to-remember/2023/06/01/14/23/2023-hrs-expert-consensus-arrhythmias

## Editorial note

Prepared from cited clinical literature using Astra's research workflow. Verify recommendations against current guidance and patient-specific factors.