Arrhythmogenic Cardiomyopathy

Table of Contents

  1. 1. Overview
  2. 2. Pathophysiology
  3. 3. Genetics
  4. 4. Clinical Presentation
  5. 5. ECG Findings
  6. 6. Diagnosis
  7. 7. Risk Stratification
  8. 8. Treatment
  9. 9. Living with ACM
  10. 10. Prognosis
  11. 11. Research Papers
  12. 12. Connections
  13. 13. Featured Videos

1. Overview

Arrhythmogenic cardiomyopathy (ACM) — also called arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/ARVD) — is an inherited heart muscle disease in which the normal muscle cells of the heart are progressively replaced by fatty and fibrous (scar) tissue. This replacement creates abnormal electrical pathways that trigger dangerous heart rhythm disturbances, particularly in young adults and athletes.

The terms ACM, ARVC, and ARVD are often used interchangeably in clinical practice, though there are meaningful distinctions. ARVC refers to the classic right-sided form, which was first formally described. Arrhythmogenic cardiomyopathy (ACM) is the broader, more modern term that now encompasses biventricular variants (affecting both sides) and left-dominant forms, where the left ventricle is primarily affected. As understanding of the disease has deepened, the ACM umbrella has become preferred because many patients show involvement beyond just the right ventricle.

ACM affects approximately 1 in 2,000 to 1 in 5,000 people, though the true prevalence is likely higher because many cases go undetected until a cardiac event or family screening triggers evaluation. The condition is notable for being the leading cause of sudden cardiac death (SCD) in young athletes in Italy and other Mediterranean regions, and a significant cause of exercise-related SCD in young adults worldwide.

The disease typically affects people in their teens through their forties. Athletes are at particularly high risk because vigorous physical activity — especially endurance sports — accelerates both the structural damage and the risk of life-threatening arrhythmias. For this reason, ACM is one of the most important cardiac conditions to identify in competitive athletes before tragedy strikes.

Despite its serious potential consequences, ACM is manageable with the right combination of activity restriction, medications, implanted devices, and in some cases catheter-based procedures or transplantation. The earlier the diagnosis, the better the chance of preventing sudden death and slowing disease progression.

Back to Table of Contents

2. Pathophysiology

To understand ACM, it helps to think of the heart as a machine built from millions of individual muscle cells (cardiomyocytes) that are tightly linked together like bricks in a wall. The mortar between these bricks consists of specialized protein complexes at the cell-to-cell junctions — structures called desmosomes. In ACM, genetic mutations weaken these desmosomal proteins, and the mechanical stress of each heartbeat gradually pulls the cells apart.

Fibrofatty Replacement

When cardiomyocytes detach and die due to failing desmosomal connections, the heart cannot replace them with functional muscle cells. Instead, the lost muscle is replaced by fibrofatty tissue — a mixture of fat cells (adipocytes) and fibrous scar. This replacement tissue cannot contract, cannot conduct electrical signals normally, and cannot repair itself. Over years and decades, patches of fibrofatty infiltration grow within the heart wall.

This abnormal tissue creates two major problems. First, it disrupts the electrical signal that coordinates the heartbeat, creating arrhythmia substrates — zones where electrical signals can loop in dangerous re-entry circuits, triggering ventricular tachycardia (VT) or ventricular fibrillation (VF). Second, as more muscle is replaced by non-contractile scar, the affected chamber loses pumping ability, leading eventually to heart failure.

Why the Right Ventricle is Most Vulnerable

The right ventricle (RV) is preferentially affected in classic ARVC because it handles volume load differently from the left ventricle (LV). The RV is a thin-walled, compliant chamber that accommodates high volumes of blood returning from the body. This means the RV wall experiences greater mechanical stretch with every heartbeat. When desmosomal proteins are weakened, this repeated stretching accelerates cell detachment and death in the RV far more than in the thicker, pressure-driven LV.

The Triangle of Dysplasia

Fibrofatty replacement in classic ARVC does not occur uniformly throughout the RV. Instead, it concentrates in three anatomically vulnerable zones collectively called the Triangle of Dysplasia:

Recognizing these three zones helps cardiologists know where to look on cardiac MRI and during electrophysiology studies. Disease often begins in one zone and spreads to the others over time.

Exercise Accelerates Disease

One of the most clinically important insights in ACM is that competitive athletic activity is a powerful accelerant of the disease. When a person with underlying desmosomal mutations engages in endurance exercise — running, cycling, swimming — the heart beats faster and harder for hours at a time, multiplying the mechanical stress on already-weakened junctions. Studies comparing ACM mutation carriers who exercise at high levels against those who are sedentary consistently show worse structural progression and higher arrhythmia rates in the athletes. Exercise is not just a trigger for individual arrhythmia episodes — it actively drives the structural remodeling that makes the disease worse over years.

This understanding has transformed management: restriction from competitive and vigorous endurance sport is not merely recommended but is considered the single most important non-pharmacological intervention in desmosomal ACM.

Back to Table of Contents

3. Genetics

ACM is primarily a genetic disease, with the vast majority of cases caused by mutations in genes encoding desmosomal proteins — the structural molecules that lock cardiac muscle cells together at their contact points (intercalated discs). ACM is most commonly inherited in an autosomal dominant pattern, meaning a single defective copy of the relevant gene is enough to cause disease. However, penetrance is incomplete — not everyone who carries the mutation will develop clinical ACM — and expression is highly variable, even within the same family carrying the same mutation.

Desmosomal Gene Mutations (Dominant Forms)

Non-Desmosomal Mutations

Naxos Disease — A Syndrome with Diagnostic Clues Written on the Skin

Naxos disease is a rare autosomal recessive form of ACM caused by biallelic (two copies of mutant) mutations in JUP (or rarely PKP2). Unlike the dominant forms, both parents must carry one mutation for a child to be affected. The condition is named after the Greek island of Naxos where it was first discovered in an isolated population with high rates of consanguineous marriage.

What makes Naxos disease remarkable is its triad of features visible without any tests: ACM of the heart, woolly hair (tightly curled, abnormally textured hair present from birth), and palmoplantar keratoderma (thickened, callus-like skin of the palms and soles). These skin and hair manifestations occur because desmosomal proteins are not only critical in heart muscle — they are equally important for the structural integrity of skin and hair follicles. When both copies of the JUP gene are defective, all desmosome-dependent tissues are affected simultaneously. Identifying woolly hair and palmar thickening in a young person with arrhythmia symptoms is a clinical clue pointing directly to this diagnosis.

Carvajal Syndrome

A similar syndromic form called Carvajal syndrome results from biallelic mutations in DSP (desmoplakin). Like Naxos disease, affected individuals have woolly hair and palmoplantar keratoderma, but the cardiac phenotype is left-dominant ACM with features of dilated cardiomyopathy, often presenting with severe left heart failure in childhood or adolescence. First described in Ecuadorian families, Carvajal syndrome demonstrates that different desmosomal gene mutations — even in the recessive setting — preferentially affect different heart chambers.

Genetic Testing in Clinical Practice

Comprehensive genetic panel testing identifies a causative mutation in approximately 40–50% of clinically diagnosed ACM patients. A negative genetic test does not exclude ACM — it simply means the causative mutation was not identified (it may reside in a gene not yet included in panels, or be a novel variant of uncertain significance). A positive result, conversely, enables targeted family screening: first-degree relatives (parents, siblings, children) of a confirmed mutation carrier should undergo genetic testing and periodic cardiac evaluation, even if asymptomatic.

Back to Table of Contents

4. Clinical Presentation

ACM most commonly presents in young adults between the teens and forties, with a slight male predominance in classic ARVC (though left-dominant and biventricular forms show less sex bias). The disease evolves through four recognizable phases, though patients may be diagnosed at any stage — and tragically, some are diagnosed only after a cardiac arrest.

Phase 1: The Concealed Phase

In the early concealed phase, significant fibrofatty replacement is already accumulating within the right ventricle, but the patient has no symptoms. This is the most dangerous phase because the structural disease creates an arrhythmia substrate capable of causing sudden cardiac death, yet the person feels perfectly well. Athletes in this phase may be at the peak of their physical performance, unaware they carry a silent threat. The concealed phase may last years to decades, and is why family screening and pre-participation athletic screening are so important.

Phase 2: The Overt Electrical Phase

As fibrofatty infiltration progresses, abnormal electrical activity begins to generate symptoms:

Phase 3: Right Ventricular Dysfunction

As large segments of RV muscle are replaced by non-contractile fibrofatty scar, the right ventricle begins to fail as a pump. Signs and symptoms of right-sided heart failure emerge:

Phase 4: Biventricular Failure

In a subset of patients — particularly those with DSP, DSG2, LMNA, or left-dominant variants — the disease spreads to involve the left ventricle as well, producing a picture of biventricular dilated cardiomyopathy indistinguishable from idiopathic DCM without genetic testing or careful imaging review. At this stage, both systemic and pulmonary circulation are compromised, and advanced heart failure therapies including transplantation may be required.

Sudden Cardiac Death as the First Presentation

In a proportion of patients — disproportionately athletes in the concealed phase — sudden cardiac death is the first and only manifestation of the disease. Autopsy studies in young people who die suddenly during sport identify ACM as the underlying cause in a significant fraction of cases, particularly in Italy where systematic post-mortem examination of young SCD victims has generated much of the foundational epidemiology of this disease.

Back to Table of Contents

5. ECG Findings

The 12-lead electrocardiogram (ECG) is one of the most important and accessible diagnostic tools in ACM. Several characteristic findings reflect the underlying fibrofatty infiltration and abnormal conduction within the right ventricle. No single finding is perfectly sensitive or specific, but certain patterns are highly suggestive — particularly when seen together.

The Epsilon Wave — Pathognomonic Sign

The epsilon wave is the single most specific ECG finding in ACM. It appears as a small positive deflection immediately following the end of the QRS complex in the right precordial leads (V1–V3), visible as a tiny notch or bump between the QRS and the T-wave. The epsilon wave represents delayed depolarization of fibrofatty-infiltrated RV myocardium — pockets of surviving muscle cells embedded within scar that activate later than the surrounding healthy myocardium, producing a low-amplitude late potential visible at the body surface.

The epsilon wave is present in only about 30% of ACM patients, but when it is present, it is considered pathognomonic (virtually diagnostic) of the condition. It should be looked for carefully using the Fontaine bipolar leads (which use alternative electrode placements to amplify right ventricular signals) when standard ECG quality is insufficient to detect a subtle epsilon wave.

T-Wave Inversions in Right Precordial Leads

T-wave inversion in leads V1 through V3 (and sometimes V4) is the most common ECG abnormality in ACM, found in approximately 55–85% of patients. It reflects abnormal repolarization of the right ventricular myocardium due to fibrofatty replacement. In the Task Force Criteria, T-wave inversion in V1–V3 in the absence of complete right bundle branch block constitutes a major criterion for diagnosis in individuals over age 14.

An important caveat: T-wave inversion in V1–V3 is also seen in normal women (as a normal variant) and in highly trained athletes ("athlete's heart"). Careful interpretation in clinical context is essential — isolated V1–V3 inversions in an asymptomatic woman with no family history and a structurally normal heart require a different level of concern than the same finding in a young male athlete with syncope.

LBBB-Morphology Ventricular Tachycardia

When VT arises in the right ventricle, the electrical impulse spreads from right to left, activating the left ventricle late — exactly mimicking left bundle branch block (LBBB) on ECG. Therefore, LBBB-morphology VT (wide QRS with LBBB pattern, rapid rate) in a young person without structural RV disease is the characteristic arrhythmia of ACM. The axis of the VT can help localize its origin: inferior axis VT in LBBB morphology often comes from the RVOT, while superior axis VT suggests an inferobasal RV origin.

QRS Duration Prolongation in V1

A QRS duration greater than 110 ms in leads V1–V3 (called terminal activation duration prolongation), representing slowed conduction through diseased RV myocardium, is a minor diagnostic criterion. This subtle slurring or notching of the terminal QRS in the right precordial leads reflects the same phenomenon as the epsilon wave but at a less specific level of resolution.

Signal-Averaged ECG (SAECG) and Late Potentials

The signal-averaged ECG is a high-resolution technique that averages hundreds of cardiac cycles to reduce noise and reveal tiny, low-amplitude electrical signals at the end of the QRS complex — called late potentials. These represent the same delayed depolarization seen as epsilon waves on standard ECG, but detected with far greater sensitivity. Abnormal SAECG with late potentials is a minor diagnostic criterion in the Task Force Criteria. Because it is more sensitive than the standard epsilon wave, SAECG is valuable for screening in patients with borderline findings.

Back to Table of Contents

6. Diagnosis

Diagnosing ACM is one of the most challenging tasks in clinical cardiology, largely because no single test is definitively diagnostic and because many findings overlap with normal variants or other conditions. The internationally accepted framework for diagnosis is the 2010 Revised Task Force Criteria, which synthesize findings from six domains into a scoring system defining definite, borderline, and possible ACM.

The 2010 Revised Task Force Criteria

Criteria are organized into six categories, each with major and minor criteria. Definite ACM requires: 2 major criteria, OR 1 major + 2 minor criteria, OR 4 minor criteria from different categories. Borderline = 1 major + 1 minor, or 3 minor. Possible = 1 major, or 2 minor.

  1. Global or regional RV dysfunction and structural alteration — detected by echocardiography, cardiac MRI, or contrast ventriculography. Major criteria include severe RV dilation, RV aneurysm, or regional RV wall motion abnormality (akinesis, dyskinesis). Minor criteria include milder forms of the same findings.
  2. Tissue characterization of the RV wall — fibrofatty replacement seen on endomyocardial biopsy (low sensitivity, high specificity; the RV free wall is not routinely biopsied due to perforation risk; septum biopsies are safer but less informative). Residual cardiomyocytes below 60% in at least one sample with fibrous replacement is a major criterion.
  3. Repolarization abnormalities — T-wave inversion in V1–V3 in the absence of complete RBBB is a major criterion; T-wave inversion in V1 and V2 or V4–V6, or with RBBB, are minor criteria.
  4. Depolarization and conduction abnormalities — epsilon wave is a major criterion; late potentials on SAECG or terminal QRS prolongation in V1–V3 are minor criteria.
  5. Arrhythmias — non-sustained or sustained VT with LBBB morphology and inferior axis is a major criterion; LBBB-morphology VT with superior or indeterminate axis, or more than 500 PVCs per 24 hours, are minor criteria.
  6. Family history — confirmed ACM in a first-degree relative who meets Task Force Criteria (major); ACM in a first-degree relative where full clinical evaluation was not performed (minor); sudden death at age under 35 in a first-degree relative suspected to be due to ACM (minor); confirmed pathogenic ACM mutation in the index case or first-degree relative (major).

Cardiac MRI — The Gold Standard for Structural Assessment

Cardiac magnetic resonance imaging (CMR) is the most powerful non-invasive tool for evaluating ACM. Unlike echocardiography, CMR can directly visualize the RV free wall — a region notoriously difficult to image with ultrasound — and provides tissue characterization through:

CMR interpretation in ACM requires expertise; false-positive findings are common in inexperienced hands, particularly regarding fatty infiltration (normal epicardial fat can be misinterpreted). CMR should be performed and read at experienced cardiomyopathy centers.

Echocardiography

Echocardiography remains the first-line imaging test for practical reasons: availability, cost, and ability to perform serially to monitor disease progression. However, the RV is inherently difficult to image with echo, and subtle early ACM findings can be missed. Advanced techniques (3D echo, strain imaging, contrast echo) improve sensitivity. Specific findings include RV dilation, reduced RV fractional area change, and RV wall motion abnormalities in the Triangle of Dysplasia zones.

Genetic Testing

Comprehensive desmosomal and ACM gene panel testing is recommended in all patients who meet or are suspected to meet Task Force Criteria. A pathogenic mutation serves as a major criterion (Family History category) and, critically, enables cascade genetic screening of family members. However, the majority of patients will be genotype-negative, and a negative result does not reduce the clinical diagnosis. Variants of uncertain significance (VUS) are common and require careful interpretation — VUS alone should not be used to diagnose or exclude ACM.

Exercise Testing

Exercise stress testing in ACM is used not for diagnosis but for arrhythmia provocation in a controlled, monitored setting. Exercise-induced VT in LBBB morphology strongly supports the diagnosis and identifies patients at higher arrhythmic risk. Exercise testing is also used to evaluate whether antiarrhythmic therapy is suppressing exercise-triggered VT effectively.

Back to Table of Contents

7. Risk Stratification

Not all patients with ACM face the same risk of life-threatening events. Identifying who is at highest risk for sudden cardiac death (SCD) or hemodynamically unstable VT is essential for appropriate ICD implantation decisions, since ICDs carry their own risks — lead complications, inappropriate shocks, and procedural morbidity. The following features indicate high risk requiring aggressive management:

High-Risk Clinical Features

Sports Restriction — Non-Negotiable

The 2019 HRS Expert Consensus Statement and multiple international guidelines unanimously recommend that patients with definite ACM (regardless of genotype or current symptom status) should not participate in competitive or vigorous endurance sports, lifelong. This is not a suggestion to be weighed against athletic goals — it is a safety imperative. Exercise does not merely trigger individual arrhythmias; it fundamentally alters the disease course by accelerating desmosomal disruption, fibrofatty replacement, and RV remodeling. Stopping competitive sport is the most powerful intervention available to slow structural progression.

Low-intensity leisure activity (walking, mild recreational exercise) is generally permitted and may be beneficial for general health. The specific threshold of "permitted activity" is individualized based on genotype, arrhythmia burden, and structural severity — decisions best made at specialized cardiomyopathy centers.

Back to Table of Contents

8. Treatment

Management of ACM is multifaceted, combining devices, medications, catheter procedures, lifestyle modification, and in end-stage disease, heart transplantation. The goals are to prevent sudden cardiac death, control arrhythmia symptoms, and slow structural progression.

Implantable Cardioverter-Defibrillator (ICD)

The ICD is the cornerstone of SCD prevention in ACM. It continuously monitors heart rhythm and delivers a life-saving shock to terminate VF or hemodynamically unstable VT. ICD implantation is recommended:

ICDs in young patients carry real long-term burdens: lead fractures, inappropriate shocks (from sinus tachycardia during exercise or T-wave oversensing), device infections, and psychological impact. Programming the device to discriminate appropriately between sinus tachycardia (which should not be shocked) and VT/VF (which should) requires careful individualized optimization.

Antiarrhythmic Drug Therapy

Catheter Ablation

Catheter ablation targets the arrhythmia substrate within fibrofatty scar to eliminate VT circuits. It is recommended for:

ACM ablation has a technical challenge: the fibrofatty substrate in ACM is predominantly epicardial (on the outer surface of the RV wall), whereas standard catheter ablation approaches from the inside of the heart (endocardial) may miss the critical substrate. Many patients require combined endocardial and epicardial ablation — the epicardial approach is performed via subxiphoid pericardial access, requiring specialized expertise. Even with combined approaches, ACM ablation carries higher recurrence rates than ablation for other arrhythmias, because the underlying disease continues to progress and new arrhythmia substrates can form.

Heart Failure Therapy

Patients who develop right or biventricular heart failure are managed with standard heart failure medications: ACE inhibitors or ARBs, beta-blockers, aldosterone antagonists, diuretics for fluid management. SGLT2 inhibitors (empagliflozin, dapagliflozin) are now incorporated into heart failure management and may benefit ACM patients with reduced ejection fraction, though specific trial data in ACM are limited. Cardiac resynchronization therapy (CRT) may benefit selected patients with biventricular failure and left bundle branch block.

Sports Restriction and Lifestyle Modification

As emphasized throughout, cessation of competitive and vigorous endurance activity is the most important single intervention for slowing structural progression and reducing arrhythmia risk. Physical activity should be limited to low-intensity leisure activities. Patients should avoid stimulants and excessive caffeine intake that may trigger arrhythmias. Alcohol restriction is advisable as alcohol can provoke arrhythmias.

Heart Transplantation

For patients who develop end-stage biventricular failure refractory to medical therapy, or for patients with intractable VT storm not amenable to ablation or drug therapy, heart transplantation is the definitive treatment. Outcomes after transplantation in ACM patients are generally good, comparable to other cardiomyopathy indications. Approximately 10% of ACM patients require transplantation over long-term follow-up.

Back to Table of Contents

9. Living with ACM

A diagnosis of ACM carries profound personal, social, and psychological implications — especially when the person affected is a young athlete whose identity and daily life have been built around sport. Understanding what to expect, how to adapt, and where to find support can make an enormous difference in quality of life.

The Emotional Weight of Sports Restriction

For competitive athletes, being told they must stop their sport permanently is not simply a change in routine — it can feel like a loss of identity. Research in ACM patients has documented high rates of depression, anxiety, and grief in the aftermath of diagnosis and sports restriction. It is entirely normal to feel angry, sad, or resistant to this recommendation. These feelings deserve acknowledgment, not dismissal. Psychological counseling, peer support groups (organizations like the ARVC Foundation connect patients with others navigating the same experience), and involvement of mental health professionals experienced with athletes are all valuable.

Low-intensity activities — walking, gentle cycling, yoga, swimming at a recreational pace — are generally permitted and should be encouraged both for physical health and for the psychological benefits of continued movement. The distinction between "forbidden" and "permitted" activity should be discussed explicitly with a cardiologist, since the boundary is personalized rather than categorical.

Family Screening and Genetic Counseling

Because ACM is an inherited condition, a new diagnosis in one family member means others are potentially at risk. All first-degree relatives (parents, siblings, adult children) of a confirmed ACM patient should be referred for:

Genetic counselors can help families navigate the implications of a positive or negative genetic test, insurance concerns (genetic non-discrimination laws vary by country and type of insurance), and reproductive planning for those wishing to have children.

Pregnancy in ACM

Pregnancy in women with ACM carries a moderately increased risk compared to the general population, due to the cardiac hemodynamic changes of pregnancy (increased blood volume, cardiac output, and heart rate) that can provoke arrhythmias. Most women with mild-to-moderate ACM tolerate pregnancy reasonably well with appropriate monitoring, though those with severe ventricular dysfunction or a history of serious arrhythmias require specialized management at a center with expertise in high-risk obstetric cardiology (a "cardio-obstetrics" team). Antiarrhythmic medications must be reviewed for teratogenicity risk.

Living with an ICD

For patients who receive an ICD, daily life adjustments are modest but real. Modern ICDs are generally compatible with common electronic devices (cell phones, computers, household appliances). Contact sports should be avoided due to risk of device damage. Patients who receive an appropriate shock (the device correctly treating a dangerous arrhythmia) often experience significant anxiety about future shocks — this is normal and benefit from psychological support alongside medical management. Inappropriate shocks (the device firing when it should not) are distressing and can sometimes be painful; working closely with the device team to optimize programming minimizes this risk.

Monitoring and Follow-Up

ACM is a progressive disease in many patients, so regular monitoring is essential. Typical follow-up includes annual (or more frequent) clinic visits with ECG and Holter monitoring, periodic repeat cardiac MRI (or echo), device interrogation for ICD patients, and repeat genetic testing updates as new disease genes are identified. Patients should know the warning signs requiring urgent evaluation: new or worsening palpitations, dizziness, syncope, ankle swelling, or inappropriate ICD shocks.

Back to Table of Contents

10. Prognosis

The prognosis of ACM has improved substantially over the past three decades as understanding of the disease, diagnostic tools, and treatment options have all advanced. However, ACM remains a serious condition requiring lifelong attention and management.

Risk of Sudden Cardiac Death

In diagnosed ACM patients who are appropriately managed (sports restriction, medical therapy, ICD when indicated), the annual risk of sudden cardiac death is approximately 1–2%. Without diagnosis and management — particularly in competitive athletes who continue high-intensity activity — the risk is far higher. Studies from Italy, where systematic athletic screening programs have been in place since the 1980s, have shown that pre-participation ECG screening reduces SCD in young athletes by up to 89% through identifying conditions like ACM before a fatal event.

Disease Progression

ACM is progressive in many patients, with gradual expansion of fibrofatty replacement over years. The rate of progression varies enormously by genotype, sex, activity level, and individual biology. Male sex, competitive athletics, certain genotypes (TMEM43, multiple mutations), and high PVC burden are associated with faster progression. Patients who strictly adhere to sports restriction and appropriate medical therapy tend to have slower structural decline.

Heart Failure Outcomes

Progression to symptomatic heart failure occurs in a significant minority of patients over long-term follow-up. Of those who develop biventricular failure, approximately 10% ultimately require heart transplantation. Post-transplant outcomes in ACM are generally excellent, with survival rates comparable to other cardiomyopathy diagnoses. Rare reports of ACM recurrence in transplanted hearts (presumably from fibroblast/adipose remodeling initiated by systemic signals or residual disease) exist but are uncommon.

Impact of Early Diagnosis and Management

The most important prognostic determinant is early diagnosis followed by appropriate management. Patients diagnosed during family screening (before developing symptoms) and who promptly restrict from competitive sport, undergo appropriate risk stratification, and receive indicated ICD therapy have dramatically better outcomes than those diagnosed after cardiac arrest or late-stage structural failure. This underscores the importance of cascading family screening whenever ACM is identified, and of high clinical suspicion in young athletes with palpitations, syncope, or LBBB-morphology arrhythmias.

Back to Table of Contents

11. Research Papers

The following peer-reviewed publications represent key milestones in the understanding, diagnosis, and management of arrhythmogenic cardiomyopathy.

  1. Thiene G, et al. Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med. 1988;318(3):129–133. PMID: 3336399
  2. Marcus FI, 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
  3. Corrado D, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. J Am Coll Cardiol. 1994;23(3):806–807. PMID: 8113567
  4. McKenna WJ, et al. Diagnosis, risk stratification, and management of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J. 1994;15(7):863–872. PMID: 7925500
  5. Basso C, et al. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009;373(9671):1289–1300. PMID: 19362677
  6. Corrado D, et al. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Circulation. 2015;132(5):441–453. PMID: 26216085
  7. Calkins H, et al. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. J Am Coll Cardiol. 2018;72(14):e91–e220. PMID: 29097296
  8. Towbin JA, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301–e372. PMID: 31078652
  9. Bauce B, et al. Clinical spectrum and pathophysiology of right ventricular cardiomyopathy. Ital Heart J. 2002;3(4):277–282. PMID: 12025374
  10. Dalal D, et al. Arrhythmogenic right ventricular dysplasia: a United States experience. Circulation. 2005;112(25):3823–3832. PMID: 16344387
  11. Nava A, et al. Natural history of Naxos disease. J Am Coll Cardiol. 2000;35(7):1927–1935. PMID: 10841243
  12. Te Riele AS, et al. Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Heart Assoc. 2013;2(5):e000285. PMID: 24091601

Search PubMed for More Research

Back to Table of Contents

12. Connections

Back to Table of Contents