Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) — formerly called arrhythmogenic right ventricular dysplasia (ARVD) — is a rare but dangerous inherited heart muscle disease in which the normal muscle of the right ventricle is progressively replaced by fat and scar tissue. This fibrofatty replacement does not happen randomly: it begins in a predictable zone of the right ventricle called the triangle of dysplasia and, over years, spreads outward. The consequences are severe — the abnormal tissue creates short circuits in the heart's electrical system, generating life-threatening ventricular arrhythmias and sudden cardiac death, most often in young people during or shortly after vigorous exercise. ARVC is the leading cause of sudden cardiac death in young competitive athletes in some European countries, particularly Italy, and is a significant contributor in North America as well.

What Is ARVC?
Genetics — The Desmosomal Disease
Pathology — Fibrofatty Replacement and the Triangle of Dysplasia
Clinical Presentation
Diagnosis — The 2010 Task Force Criteria
ECG and Arrhythmia Patterns
Cardiac Imaging — Echo and CMR
Treatment and Management
Exercise, Athletes, and Lifestyle Restrictions
Genetic Counseling and Family Screening
Prognosis
Key Research Papers
Connections
Featured Videos

What Is ARVC?

ARVC is a primary cardiomyopathy — a disease of the heart muscle itself, not of the arteries or valves. Its distinguishing feature is the progressive substitution of right ventricular myocardium with fibrous and adipose (fat) tissue. Normal muscle cells die and are replaced by material that cannot contract and — critically — cannot conduct electrical impulses properly. The result is a patchwork of healthy muscle interspersed with scar and fat, creating a chaotic electrical landscape where dangerous arrhythmias can ignite and sustain themselves.

The disease primarily targets the right ventricle, which is the lower chamber that receives blood from the body and pumps it to the lungs. In advanced cases, the left ventricle can also be involved, and some genetic forms (particularly those caused by mutations in the gene DSP, encoding desmoplakin) affect the left ventricle more prominently than the right — a variant now sometimes called "left-dominant arrhythmogenic cardiomyopathy" or "DSP cardiomyopathy."

Prevalence: ARVC affects approximately 1 in 2,000 to 5,000 people. Because many cases are mild or subclinical, the true prevalence may be higher. There is a marked male predominance in clinical expression — men are diagnosed approximately three times more often than women — even though the underlying genetic mutations are inherited equally by both sexes. The exact reasons for this sex disparity are not fully understood but may involve differences in physical activity levels, hormonal influences, and cardiac size.

Age of onset: Clinical manifestations typically emerge in the second through fourth decades of life. Sudden cardiac death as the first presentation — with no prior symptoms or diagnosis — occurs in roughly 20% of cases, often during or just after intense exercise. Children under 12 rarely show symptoms even when they carry a causative mutation.

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Genetics — The Desmosomal Disease

ARVC is inherited in an autosomal dominant pattern in most families, meaning a single copy of the mutated gene (inherited from one parent) is sufficient to cause the disease. However, penetrance — the proportion of gene carriers who actually develop clinical ARVC — is highly variable, even within the same family. Some carriers develop severe disease with life-threatening arrhythmias in their twenties; others carry the same mutation and live to old age with minimal or no cardiac abnormality.

Approximately 60% of patients with familial ARVC have an identifiable mutation in one of the desmosomal genes. Desmosomes are specialized protein complexes that physically link adjacent heart muscle cells (cardiomyocytes) to each other, anchoring intermediate filaments and providing mechanical stability. When desmosomal proteins are abnormal, cardiomyocytes cannot adequately withstand the repetitive mechanical stress of each heartbeat — especially the intensified stress of exercise. Cells detach and die, and the gap they leave is filled in by scar tissue and fat.

The Key Genes

PKP2 (Plakophilin-2) — the most commonly mutated gene in ARVC, accounting for 40–45% of familial cases in North America and Europe. Plakophilin-2 is a desmosomal scaffolding protein that connects desmoglein and desmocollin to the intermediate filament network. PKP2 mutations cause classical right-ventricular-predominant ARVC.
DSP (Desmoplakin) — mutations in desmoplakin, the largest desmosomal protein, account for 10–15% of cases and have a distinct clinical personality. DSP-related cardiomyopathy often involves the left ventricle as prominently as the right, produces early and extensive fibrosis detectable by cardiac MRI, and can cause severe early-onset arrhythmias. Some patients with DSP mutations are misdiagnosed as having dilated cardiomyopathy.
DSG2 (Desmoglein-2) and DSC2 (Desmocollin-2) — transmembrane desmosomal cadherins that mediate direct cell-to-cell adhesion. Together they account for a further 5–10% of cases.
JUP (Junctional Plakoglobin) — mutations in plakoglobin cause Naxos disease, a recessive form of ARVC (both gene copies must be mutated) that was first described in families from the Greek island of Naxos. It presents as a triad of ARVC, palmoplantar keratoderma (thickening of the skin on the palms and soles), and woolly hair. Naxos disease was the first genetic form of ARVC to be identified, enabling researchers to track ARVC back to the desmosomes. A similar recessive syndrome caused by DSP mutations is called Carvajal syndrome (ARVC + keratoderma + woolly hair + predominantly left-ventricular involvement).
TMEM43 — a non-desmosomal gene encoding a nuclear membrane protein. The TMEM43 p.S358L mutation is a founder mutation among Newfoundland, Canadian, and some European populations. It is autosomal dominant with near-complete penetrance and is one of the most malignant forms of ARVC — men with this mutation have very high rates of sudden death and heart failure.

In the remaining 40% of ARVC patients, no mutation is identified with current testing panels. Some of these cases may involve mutations in non-desmosomal genes (including ion channel genes, RYR2 encoding the ryanodine receptor 2, and LMNA encoding lamin A/C), or mutations in regulatory regions of known genes not captured by standard testing. Compound heterozygosity (mutations in two different desmosomal genes) appears to result in a more severe phenotype than single mutations.

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Pathology — Fibrofatty Replacement and the Triangle of Dysplasia

The hallmark pathological finding of ARVC is fibrofatty replacement of the right ventricular myocardium. Under the microscope, normal muscle cells are replaced by fibrous connective tissue and fat, typically in a patchy distribution. The surviving muscle cells between these areas of replacement become electrically isolated islands, separated from their neighbors by scar tissue that blocks normal electrical conduction. This chaotic architecture is the substrate for re-entrant ventricular tachycardia — the most common and dangerous arrhythmia in ARVC.

The disease does not affect the right ventricle uniformly. In classic ARVC, the earliest and most severe changes are concentrated in the triangle of dysplasia, a region that encompasses:

The right ventricular outflow tract (RVOT) — the funnel-shaped portion of the RV that connects to the pulmonary artery
The right ventricular apex — the pointed inferior tip of the right ventricle
The subtricuspid (or peritricuspid) area — the RV myocardium just beneath the tricuspid valve annulus

As fibrofatty replacement advances within the triangle of dysplasia, the RV free wall thins and its contractile function deteriorates. Regional wall motion abnormalities appear — areas of akinesia (no movement), dyskinesia (paradoxical outward bulging during systole), or small aneurysms that form at sites of maximum wall thinning. In advanced disease, the RV dilates globally and its ejection fraction falls. In some patients, disease eventually spreads to the left ventricle, producing biventricular dysfunction and heart failure.

The mechanism linking exercise to disease progression is central to understanding ARVC. The right ventricle is inherently thinner-walled and more vulnerable to mechanical stress than the left ventricle. During intense endurance exercise, cardiac output increases dramatically, and the RV — which pumps the same volume as the LV but through a lower-resistance pulmonary circuit — still undergoes extreme wall stress with each contraction. In an athlete, chronic high-intensity training causes physiological RV remodeling: the RV dilates and its walls adapt. In a person with desmosomal dysfunction, this very same mechanical stress accelerates the pathological process — desmosomal connections fail under the strain, cardiomyocytes die, and fibrofatty tissue fills the gap. This explains why competitive athletes with ARVC experience faster disease progression and higher arrhythmic risk than non-athletes with the same mutation.

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Clinical Presentation

ARVC presents along a spectrum from completely asymptomatic gene carriers detected only through family screening to sudden cardiac death as the first and only manifestation of the disease. The classic presentation is a young athletic person, often male, with palpitations, presyncope, or syncope triggered by exercise.

Symptomatic Presentations

Palpitations — the most common symptom. Patients describe the sensation of a racing, pounding, or irregular heartbeat. These palpitations correspond to frequent premature ventricular contractions (PVCs), runs of non-sustained ventricular tachycardia (NSVT), or sustained VT.
Presyncope — lightheadedness or near-fainting, typically during exercise. The cardiac output drops when VT is fast enough to impair ventricular filling, reducing cerebral perfusion.
Syncope — loss of consciousness from VT or VF. Exercise-triggered syncope in a young person is a serious red flag requiring urgent cardiology evaluation.
Right heart failure — in advanced ARVC with severe RV dysfunction, patients develop the symptoms of right-sided heart failure: peripheral edema (swelling of the legs), fatigue, abdominal swelling from ascites, and exertional dyspnea.
Sudden cardiac death (SCD) — occurs in approximately 20% of ARVC patients as the presenting event before any diagnosis has been made. The victim — often a young competitive athlete — collapses during or shortly after vigorous physical exertion and cannot be resuscitated, or is resuscitated only with emergency defibrillation. SCD in ARVC results from ventricular fibrillation, usually triggered by exercise-induced VT that degenerates into VF.

The ARVC Disease Phases

Cardiologists describe ARVC as progressing through recognizable clinical phases, though not every patient follows this trajectory:

Concealed phase — the patient carries the mutation and has early structural changes detectable only on sensitive imaging (CMR), but is asymptomatic. Sudden death can occur even in this phase during extreme exercise.
Overt electrical disorder phase — symptoms appear: palpitations, PVCs, NSVT, sustained VT. Structural abnormalities are detectable on imaging. This is the phase in which most ARVC patients are diagnosed.
RV failure phase — the RV is severely dilated and dysfunctional. Right heart failure symptoms predominate. LV involvement may occur.
Biventricular failure phase — both ventricles are affected. The clinical picture resembles end-stage dilated cardiomyopathy. Heart transplantation may be required.

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Diagnosis — The 2010 Task Force Criteria

Diagnosing ARVC is genuinely challenging because no single test is pathognomonic, the disease is patchy, and many findings can be subtle in early or mild cases. The medical community standardized diagnosis in 2010 with the Revised Task Force Criteria, which organize diagnostic findings into six categories. Each finding is classified as either a Major criterion (more specific for ARVC) or a Minor criterion (supportive but less specific). A definitive diagnosis of ARVC requires:

2 Major criteria, OR
1 Major + 2 Minor criteria, OR
4 Minor criteria from different categories

The Six Diagnostic Categories

Global or regional dysfunction and structural alterations — detected by echocardiography, cardiac MRI, or RV angiography. Major criteria include significant RV dilation, reduced RV ejection fraction, or regional akinesia/dyskinesia/aneurysm of the RVOT plus specified measurement thresholds. Minor criteria use lower thresholds for the same findings.
Tissue characterization of the RV wall — endomyocardial biopsy finding fibrous replacement of >60% of the myocardium in at least 3 samples (Major), or fibrofatty replacement in 60% or less (Minor). Biopsy is rarely needed if imaging and other criteria are sufficient.
Repolarization abnormalities on ECG — T-wave inversions in leads V1–V3 (or beyond) in patients aged 14 and older without complete right bundle branch block is a Major criterion; T-wave inversions in V1 and V2 only, or V4–V6, are Minor criteria.
Depolarization or conduction abnormalities — the epsilon wave (a small deflection at the end of the QRS complex in leads V1–V3, representing delayed depolarization from areas of fibrofatty scar) is a Major criterion. Terminal activation duration >55 ms in V1–V3, or signal-averaged ECG late potentials, are Minor criteria.
Arrhythmias — non-sustained or sustained VT with left bundle branch block (LBBB) morphology and superior axis is a Major criterion (because LBBB morphology indicates the VT originates in the right ventricle, which depolarizes late). Over 500 PVCs in 24 hours on Holter monitoring is a Minor criterion.
Family history and genetic findings — a first-degree relative with confirmed ARVC, or a pathogenic mutation in an ARVC-associated gene, is a Major criterion; a first-degree relative with probable ARVC, or sudden death under age 35 from suspected ARVC in a first-degree relative, is a Minor criterion.

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ECG and Arrhythmia Patterns

The 12-lead electrocardiogram is central to ARVC evaluation and often provides the first clue to diagnosis. Several ECG patterns are characteristic:

T-Wave Inversions in Right Precordial Leads

T-wave inversions in leads V1 through V3 — and sometimes extending to V4 or V5 — are the most common ECG abnormality in ARVC, present in over 50% of patients. These inversions reflect abnormal repolarization of the RV free wall. In clinical practice, T-wave inversions in the right precordial leads in a young person without right bundle branch block should always prompt evaluation for ARVC (as well as other conditions, including pulmonary hypertension and Brugada syndrome).

The Epsilon Wave

The epsilon wave is a small, notched deflection that appears just after the end of the QRS complex in leads V1–V3. It represents delayed electrical activation of the portions of the RV that are separated from the rest of the myocardium by fibrofatty scar. The epsilon wave is highly specific for ARVC but requires a careful eye and high-quality ECG recording to detect — it is subtle and easily missed on a standard ECG tracing. Signal-averaged ECG (SAECG) amplifies these late potentials electronically and is more sensitive than standard ECG for detecting them.

Ventricular Tachycardia with LBBB Morphology

In ARVC, VT originates in the diseased right ventricle. Because the RV activates before the LV in normal conduction (traveling through the right bundle branch), VT arising from the RV activates the left ventricle late, via slow muscle-to-muscle conduction rather than through the specialized conduction system. This produces a QRS complex that looks like left bundle branch block on ECG — the hallmark of right-sided origin. VT in ARVC characteristically has LBBB morphology. Furthermore, VT originating from the RVOT typically has an inferior axis (positive QRS in leads II, III, and aVF), while VT from other RV sites may have a superior axis. A superior axis with LBBB morphology is the Major criterion because it is most characteristic of ARVC as opposed to idiopathic RVOT tachycardia, which is a benign condition.

Holter Monitoring

24- to 48-hour ambulatory ECG monitoring (Holter monitoring) frequently reveals high PVC burden (often >1,000 PVCs per day, sometimes >10,000), runs of NSVT, or brief episodes of sustained VT that the patient may not have perceived. Holter monitoring is recommended for all patients being evaluated for ARVC and for surveillance of known ARVC patients.

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Cardiac Imaging — Echo and CMR

Echocardiography

Echocardiography is widely available, inexpensive, and radiation-free, making it the first-line imaging tool in ARVC evaluation. The RV is inherently more difficult to image than the LV because of its complex geometry and thin free wall. Echo in ARVC seeks to identify:

RV dilation — measured as RV outflow tract diameter in parasternal long-axis view (PLAX-RVOT) and short-axis view (PSAX-RVOT)
Reduced RV fractional area change (a surrogate for RV ejection fraction on 2D echo)
Regional wall motion abnormalities — akinesia, dyskinesia, or aneurysm in the RVOT, apex, or subtricuspid region

Echo has significant limitations in ARVC: it cannot detect fibrofatty infiltration directly, the RV free wall is often poorly visualized, and early or mild disease may appear entirely normal on echo. 3D echocardiography and tissue Doppler imaging improve RV assessment but are not universally available.

Cardiac Magnetic Resonance Imaging (CMR)

Cardiac MRI is the gold standard imaging modality for ARVC. Its advantages include superior visualization of the RV free wall (which is invisible on echo), the ability to detect fat within the myocardium on T1-weighted sequences, and the capacity to identify areas of fibrosis through late gadolinium enhancement (LGE). CMR provides:

Accurate RV volumes and ejection fraction — the Task Force Criteria use CMR-derived values with specific thresholds for Major and Minor criteria
Regional wall motion analysis — cine sequences identify akinesia, dyskinesia, and aneurysms with excellent precision
Tissue characterization — fat appears bright on T1-weighted sequences; fibrosis appears as LGE after gadolinium contrast injection. LGE in the RV (and in DSP-associated disease, the LV free wall and lateral wall) is a marker of scar and arrhythmic substrate
Wall thickness — thinning of the RV free wall (<2 mm) is a feature of advanced disease

CMR interpretation in ARVC requires expertise. Epicardial fat — which is normal — can be mistaken for intramyocardial fat infiltration. Motion artifacts from breathing and cardiac contraction can create false wall motion abnormalities. CMR should be performed at centers experienced in inherited cardiomyopathies.

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Treatment and Management

ARVC management has two primary goals: preventing sudden cardiac death and slowing disease progression. Neither goal is achieved by a single intervention — effective management combines device therapy, medications, ablation when needed, and strict exercise restriction.

Implantable Cardioverter-Defibrillator (ICD)

The ICD is the cornerstone of sudden death prevention in ARVC. The device continuously monitors heart rhythm and delivers a high-energy shock when it detects ventricular fibrillation or ventricular tachycardia too fast to be tolerated — terminating the arrhythmia and restoring normal rhythm. ICD implantation is recommended:

Secondary prevention — all survivors of cardiac arrest from VF or VT, and all patients with sustained VT causing syncope or hemodynamic compromise
Primary prevention — high-risk patients without prior cardiac arrest: those with unexplained syncope (presumed arrhythmic), non-sustained VT on monitoring, severe RV dysfunction (low RVEF), or extensive disease on imaging

ICD implantation is a significant decision, particularly in young patients, because the device requires generator replacement every 5–10 years, carries a small but real risk of inappropriate shocks (which are painful and reduce quality of life), and has infection risks. Shared decision-making — including discussing what the device does, what it cannot do, and the specific patient's risk profile — is essential.

Antiarrhythmic Medications

Medications do not prevent the structural progression of ARVC but can reduce arrhythmia burden and the frequency of ICD shocks:

Beta-blockers — first-line for suppressing symptomatic PVCs and reducing VT episodes. They are also beneficial if RV or biventricular dysfunction develops. Sotalol (which has both beta-blocking and Class III antiarrhythmic properties) is commonly preferred over pure beta-blockers in ARVC because of its additional antiarrhythmic effect.
Sotalol — most widely used antiarrhythmic in ARVC; effective for VT suppression and reducing ICD shocks. Must be initiated in a monitored setting because of QT-prolongation risk (especially in patients with renal impairment or on other QT-prolonging drugs).
Flecainide — used in some patients for PVC/VT suppression; typically used in combination rather than as monotherapy. Not appropriate in patients with significantly reduced LV or RV function.
Amiodarone — reserved for refractory, frequent VT that is not adequately controlled by other agents and is causing recurrent ICD shocks. Amiodarone's extensive side effect profile (thyroid toxicity, pulmonary toxicity, liver toxicity, corneal deposits, photosensitivity) limits its long-term use, especially in young patients.

Catheter Ablation

VT catheter ablation is an important tool in ARVC management, particularly for patients with recurrent VT causing frequent ICD shocks or poor quality of life despite antiarrhythmic medications. In ablation, electrophysiologists map the VT circuit using specialized catheters and then deliver radiofrequency energy to destroy the critical tissue that sustains the arrhythmia. Key considerations in ARVC:

Epicardial approach is often essential — because fibrofatty disease in ARVC tends to be located on the outer surface (epicardium) and middle layers of the RV free wall rather than the inner endocardium, ablation via standard endocardial catheter alone is often insufficient. A combined endocardial + epicardial approach, accessing the epicardial surface via a subxiphoid pericardial puncture, dramatically improves acute success rates.
Electroanatomical mapping — three-dimensional mapping systems create a voltage map of the RV, identifying low-voltage areas (scar) and the critical channels of surviving muscle tissue that carry the VT circuit. Substrate ablation targets these channels even when VT is not actively inducible.
High recurrence rate — ablation is not curative in ARVC. The underlying desmosomal disease continues to progress, generating new scar and new VT circuits. The majority of patients require repeat ablation procedures over time. Ablation is a tool to reduce arrhythmia burden and improve quality of life, not to eliminate the disease.

Heart Transplantation

A minority of ARVC patients progress to end-stage disease despite all therapies — either through intractable, life-threatening ventricular arrhythmias unresponsive to ablation and medications, or through severe biventricular heart failure. Heart transplantation is the definitive therapy in this setting and provides excellent long-term outcomes in ARVC. Sarcoidosis and amyloidosis can recur in the transplanted heart, but ARVC does not recur after transplantation, because the new heart does not carry the donor's genetic mutation.

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Exercise, Athletes, and Lifestyle Restrictions

The relationship between exercise and ARVC is unique in cardiology — no other inherited heart disease has such a well-established and mechanistically understood link between physical activity and disease worsening. Exercise restriction is therefore one of the most important and most difficult management decisions in ARVC.

Why Exercise Is Dangerous in ARVC

The reasons are both electrical and structural:

Acute arrhythmia risk — catecholamines (adrenaline) released during exercise increase heart rate and enhance the automaticity and excitability of cardiomyocytes. In a right ventricle riddled with fibrofatty scar, these catecholamines lower the threshold for VT and VF. The great majority of SCD events in ARVC occur during or within 1 hour of vigorous exercise.
Structural disease acceleration — as explained in the pathology section, high-intensity endurance exercise imposes intense wall stress on the RV, which in a desmosomal-deficient heart accelerates cardiomyocyte detachment, death, and replacement by fibrofatty tissue. Multiple studies have shown that ARVC patients who continue competitive sports progress to more severe structural disease faster than those who restrict activity.

Exercise Recommendations

Current guidelines are clear and strict: competitive athletics and high-intensity recreational exercise are contraindicated in all patients with ARVC, regardless of whether they have a defibrillator. The ICD reduces the risk of death from a VT/VF episode, but it does not prevent the exercise-accelerated structural deterioration. Key points for patients:

Disqualification from competitive sports is recommended for all patients with confirmed ARVC
Asymptomatic family members who carry a pathogenic mutation but have no clinical ARVC should also restrict competitive sports pending complete evaluation
Low-intensity recreational activities — gentle walking, easy cycling on level ground, recreational swimming at a leisurely pace — may be acceptable after careful discussion with a specialized cardiomyopathy team
The heart rate threshold below which exercise is "safe" is not precisely established; many centers advise keeping heart rate below 120–130 bpm as a rough guide for permitted activities
These restrictions are psychologically devastating for competitive athletes who have trained since childhood and built their identity around sport. A structured approach involving sports psychologists, patient support groups, and honest conversations about the underlying biology helps patients accept and adhere to restrictions

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Genetic Counseling and Family Screening

Because ARVC is an autosomal dominant disease with significant SCD risk in young adults, cascade screening of first-degree relatives (parents, siblings, and children) is a critical part of management. Identifying affected relatives before they have a cardiac event — particularly before they experience sudden death during exercise — can be lifesaving.

When a Pathogenic Mutation Is Identified

If the index patient's genetic testing identifies a pathogenic variant in a known ARVC gene, all first-degree relatives should be offered targeted genetic testing. A relative who tests positive is a mutation carrier and requires cardiac evaluation regardless of symptoms. A relative who tests negative has a much lower (though not zero) probability of ARVC and requires less intensive surveillance.

When No Mutation Is Found

In the 40% of ARVC patients without an identified mutation, genetic testing of relatives cannot be used to exclude the disease. All first-degree relatives of any ARVC patient — with or without an identified mutation — should undergo clinical cardiac screening regardless.

Screening Protocol

The standard screening evaluation for a first-degree relative of an ARVC patient includes a 12-lead ECG, signal-averaged ECG, 24-hour Holter monitor, and echocardiography. Cardiac MRI is performed if any initial tests are abnormal or suspicious. Screening should begin at age 10–12, and negative screening should be repeated every 2–3 years until age 50 (because ARVC can emerge at any point in these years). First-degree relatives who are mutation carriers with currently normal screening are advised to restrict competitive sports and be rescreened regularly.

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Prognosis

In the era before ICDs, ARVC was associated with a high rate of sudden death in young adults, with annual mortality estimates of 1–3% in symptomatic patients. ICD therapy has dramatically changed outcomes for those who are identified and treated: annual mortality in ICD-protected ARVC cohorts followed at experienced centers is now well under 1% per year.

However, prognosis is not uniform. High-risk features associated with worse outcomes include: sustained VT or prior cardiac arrest at presentation; severe RV dysfunction (RVEF <40%); LV involvement; male sex; TMEM43 p.S358L mutation carrier status; and continued competitive exercise despite the diagnosis. Young patients with mild ARVC detected through family screening who restrict exercise and are followed closely have an excellent long-term prognosis.

Disease progression is variable and largely unpredictable. The structural disease — fibrofatty replacement of the RV — generally advances slowly over decades, though episodes of rapid progression can occur. The discovery that exercise accelerates progression means that activity restriction, while socially difficult, is one of the most impactful interventions a patient can make.

ARVC registries have identified that total arrhythmic burden (total lifetime number of VT/VF episodes and ICD shocks) tends to be lower in patients diagnosed through family screening (before symptoms emerge) than in those diagnosed after a symptomatic event. This underscores the value of proactive cascade screening.

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Key Research Papers

Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31(7):806–814. PMID: 20172912
Corrado D, Basso C, Thiene G, et al. Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997;30(6):1512–1520. PMID: 9362410
Gerull B, Heuser A, Wichter T, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 2004;36(11):1162–1164. PMID: 15489853
Maron BJ, Haas TS, Ahluwalia A, Murphy CJ, Garberich RF. Demographics and epidemiology of sudden deaths in young competitive athletes: from the United States National Registry. Am J Med. 2016;129(11):1170–1177. PMID: 27475422
Kirchhof P, Fabritz L, Zwiener M, et al. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Circulation. 2006;114(17):1799–1806. PMID: 17030684
James CA, Bhonsale A, Tichnell C, et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol. 2013;62(14):1290–1297. PMID: 23871885
Bhonsale A, James CA, Bhonsale S, et al. Incremental utility of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Cardiovasc Electrophysiol. 2014;25(11):1239–1247. PMID: 24980740
Bai R, Di Biase L, Shivkumar K, et al. Ablation of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy: arrhythmia-free survival after endo-epicardial substrate based mapping and ablation. Circ Arrhythm Electrophysiol. 2011;4(4):478–485. PMID: 21659638
Calkins H, Corrado D, Marcus F. Risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation. 2017;136(21):2068–2082. PMID: 29158261
Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2015;36(41):2793–2867. PMID: 26320108
Te Riele AS, James CA, Bhonsale A, et al. Malignant arrhythmogenic right ventricular dysplasia/cardiomyopathy with a normal 12-lead electrocardiogram: a rare but underappreciated clinical entity. Heart Rhythm. 2013;10(8):1212–1220. PMID: 23608597
Bhonsale A, Groeneweg JA, James CA, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J. 2015;36(14):847–855. PMID: 25616645

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