Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

📋 Key Information Summary

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ARVC is an inherited cardiomyopathy caused by desmosomal protein mutations (PKP2, DSP, DSG2, DSC2, JUP), leading to fibrofatty replacement of the right ventricular myocardium.
Predominant mode of inheritance is autosomal dominant with variable penetrance and expressivity; compound/digenic heterozygotes have more severe disease.
ARVC is an important cause of sudden cardiac death (SCD) in young athletes aged <35 years; exercise and high-intensity sport are potent disease modifiers.
The revised 2010 Task Force Criteria (TFC) classify diagnosis as definite, borderline, or possible based on major and minor criteria across six categories.
Classic ECG findings include epsilon waves, T-wave inversion in V1–V3 (age >14), and prolonged S-wave upstroke ≥55 ms in V1–V3.
Cardiac MRI with late gadolinium enhancement is the gold-standard imaging modality, demonstrating RV wall thinning, fatty infiltration, regional RV akinesia/dyskinesia, and reduced RV ejection fraction.
All patients should undergo genetic testing targeting a panel of at least the five core desmosomal genes; cascade screening of first-degree relatives is mandatory.
Implantable cardioverter-defibrillator (ICD) implantation is indicated for survivors of ventricular fibrillation/sustained VT (Class I) and selected high-risk patients (Class IIa).
Antiarrhythmic drug therapy includes sotalol (first-line) or amiodarone; catheter ablation is reserved for recurrent ICD shocks or drug-refractory VT.
Complete cessation of competitive and high-intensity endurance sport is strongly recommended regardless of genotype to slow disease progression.
Management of heart failure in ARVC follows standard HF therapy (ACE inhibitor/ARB, beta-blocker, diuretics); advanced cases may require cardiac transplantation.
Aboriginal and Torres Strait Islander peoples face barriers including limited access to genetic testing, cardiac MRI, and specialist electrophysiology services in remote areas.

Introduction & Australian Epidemiology

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy characterised by progressive fibrofatty replacement of the right ventricular myocardium. First described by Fontaine and colleagues in 1977, ARVC is now recognised as one of the leading causes of sudden cardiac death (SCD) in individuals under 35 years of age, particularly among competitive athletes.

The estimated prevalence in the general population ranges from 1 in 2,000 to 1 in 5,000. In Australia, ARVC accounts for an estimated 10–15% of SCD cases in young athletes referred to the Victorian Institute of Forensic Medicine and is consistently identified in national SCD registries. The prevalence appears higher in certain geographic regions, including the Veneto region of Italy (from which early case series originated), and in populations with high rates of consanguinity.

ARVC typically manifests in adolescence or early adulthood (mean age at diagnosis 25–35 years), with a male predominance for symptomatic arrhythmias (male-to-female ratio approximately 3:1). Female patients tend to present later and more often with heart failure than arrhythmia. Disease expression is influenced by genotype (number of affected desmosomal genes, specific mutation type), exercise exposure, and sex.

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Sport and sudden death: ARVC accounts for up to 22% of exercise-related SCD in young athletes in some series. High-intensity and endurance exercise accelerates phenotypic expression and increases arrhythmia risk. Complete activity restriction is a cornerstone of management.

In the Australian context, the Cardiac Inherited Diseases Registry (previously based at the Baker Heart and Diabetes Institute, now expanding nationally) and the Coroner's Court SCD review process have been instrumental in identifying affected families. Access to specialist cardiomyopathy and genetic counselling services varies significantly between metropolitan and remote Australia.

Genetics & Pathophysiology (Desmosomal Mutations)

Molecular Genetics

ARVC is predominantly caused by pathogenic variants in genes encoding desmosomal proteins. The desmosome is a cell–cell adhesion complex critical for mechanical and electrical coupling of cardiomyocytes.

Gene	Protein	Frequency of Pathogenic Variants	Key Phenotypic Features
PKP2	Plakophilin-2	30–43% of genotype-positive cases	Most common; classic ARVC phenotype; generally milder than compound/digenic
DSP	Desmoplakin	10–15%	Biventricular or left-dominant disease (ARVC/D-Like); high SCD risk; skin/woolly hair associations
DSG2	Desmoglein-2	5–10%	Variable penetrance; may overlap with DCM phenotype
DSC2	Desmocollin-2	2–5%	Rare; autosomal recessive forms described
JUP	Junction plakoglobin (γ-catenin)	<2%	Naxos disease in autosomal recessive form (palmar-plantar keratoderma, woolly hair)

Non-Desmosomal Genes

Approximately 40–50% of patients meeting Task Force Criteria have no identifiable desmosomal mutation. Non-desmosomal genes associated with ARVC or ARVC-like phenotypes include TMEM43 (ARVC-5, p.S358L founder mutation in Newfoundland), PLN (phospholamban — hot-spot R14del variant), DES (desmin), TTN, RYR2, and LMNA. Whole-exome and whole-genome sequencing panels are increasingly used in Australian diagnostic laboratories.

Inheritance Patterns

Autosomal dominant (most common): Variable penetrance (60–70% by age 60); compound heterozygosity or digenic inheritance in ~5–10% of cases confers earlier onset and worse prognosis.
Autosomal recessive: Naxos disease (JUP), Carvajal syndrome (DSP) — rare; associated with ectodermal features (woolly hair, palmoplantar keratoderma).
De novo mutations: Account for ~15–20% of cases; no family history despite genetic testing of parents.

Pathophysiology

Loss of desmosomal integrity leads to:

Cell detachment and apoptosis: Mechanical stress (especially during exercise) causes cardiomyocyte death, particularly in the thin-walled right ventricle where wall stress is highest.
Fibrofatty replacement: Adipogenesis is triggered by aberrant Wnt/β-catenin signalling; dead myocardium is replaced by fibrous tissue and adipocytes. This process is patchy, affecting the RV "triangle of dysplasia" (inflow tract, apex, outflow tract).
Electrical uncoupling: Fibrofatty scar creates zones of slow conduction and conduction block, forming the substrate for re-entrant ventricular tachycardia.
Gap junction remodelling: Desmosomal mutations impair trafficking and localisation of connexin-43 (Cx43) to intercalated discs, further disrupting electrical coupling.

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Compound/digenic mutations: Patients with ≥2 desmosomal pathogenic variants have significantly worse outcomes — earlier SCD, faster progression to biventricular failure, and higher ICD event rates. Genotype profoundly influences prognosis in ARVC.

Clinical Features & Task Force Criteria

Clinical Phases

ARVC progresses through four clinical phases, though not all patients progress through every stage:

Phase 1

Concealed Phase

Structural changes may be present but are subtle. Patients are asymptomatic. SCD may be the first manifestation, particularly during exercise.

Setting: Screening (genetics, serial imaging)

Phase 2

Overt Electrical Disorder

Palpitations, syncope/pre-syncope. Monomorphic VT with LBBB morphology (RV origin). Risk of SCD increases significantly.

Setting: Cardiology referral, ICD consideration

Phase 3

RV Failure

Progressive RV dilation and dysfunction. Peripheral oedema, ascites, hepatomegaly. Arrhythmias may paradoxically decrease.

Setting: Heart failure management, transplant assessment

Phase 4

Biventricular Failure

Bi-ventricular dilatation mimicking dilated cardiomyopathy. LV involvement occurs in ~75% of cases at autopsy. End-stage disease requiring advanced therapies.

Setting: Transplant listing, palliative care

Presenting Symptoms

Palpitations: Most common presenting symptom; often triggered by exercise
Syncope / pre-syncope: Occurs in ~30% at presentation; associated with higher risk of SCD
SCD: May be the first manifestation in up to 20% of cases
Heart failure symptoms: Dyspnoea, peripheral oedema — typically late presentations
Chest pain: Atypical, may relate to myocardial inflammation

Revised 2010 Task Force Criteria

The 2010 International Task Force Criteria are the current diagnostic standard. Diagnosis is based on a points system across six categories: (1) Global or regional dysfunction and structural alterations, (2) Tissue characterisation, (3) Repolarisation abnormalities, (4) Depolarisation/conduction abnormalities, (5) Arrhythmias, and (6) Family history. Points are scored as 1 (major) or 0.5 (minor).

Category	Major Criteria (1 pt)	Minor Criteria (0.5 pt)
I. RV dysfunction	Regional RV akinesia, dyskinesia, or aneurysm + mild–severe RV dilation or reduced RVEF	Regional RV akinesia/dyskinesia + mild RV dilation or reduced RVEF; OR absence of (or only mild) RV dilation
II. Tissue characterisation	Residual myocytes <60% (or <50% if family history positive) with fibrous replacement on EMB, in ≥1 sample	Residual myocytes 60–75% (or 50–65% if family history positive) with fibrous replacement
III. Repolarisation	Right precordial T-wave inversion (V1–V3) in absence of RBBB, age ≥14	T-wave inversion V1–V2 in absence of RBBB (age ≥14), OR T-wave inversion V1–V4 in presence of complete RBBB
IV. Depolarisation	Epsilon wave in V1–V3	Late potentials on SAECG; OR filtered QRS ≥114 ms; OR duration of terminal QRS <40 μV ≥38 ms; OR root-mean-square voltage of last 40 ms ≤20 μV; OR S-wave upstroke ≥55 ms in V1–V3
V. Arrhythmias	Non-sustained or sustained VT of LBBB morphology with superior axis	Non-sustained or sustained VT of RV outflow configuration, LBBB morphology with inferior axis; OR >500 PVCs/24 h on Holter
VI. Family history	ARVC confirmed in first-degree relative (TFC); OR first-degree relative SCD <35 years with suspected ARVC; OR pathogenic mutation identification	Family history of ARVC in more distant relative; OR family history of SCD <35 years in second-degree relative

Diagnostic thresholds:

Definite ARVC: 2 major, or 1 major + 2 minor, or 4 minor criteria across different categories
Borderline ARVC: 1 major + 1 minor, or 3 minor criteria
Possible ARVC: 1 major, or 2 minor criteria

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Australian referral pathway: Patients meeting possible or higher Task Force Criteria should be referred to a specialist cardiomyopathy or inherited cardiac disease centre. State-based services include the Royal Melbourne Hospital Inherited Cardiac Diseases Clinic, the Baker Heart and Diabetes Institute, Westmead Hospital Cardiogenetics Clinic, and the Queensland Cardiovascular Genetics Service at the Prince Charles Hospital.

Investigations (ECG, MRI, Genetics)

Resting 12-Lead ECG

The ECG is abnormal in up to 90% of patients with overt ARVC and forms the basis of several Task Force criteria.

Essential

Resting 12-Lead ECG

Perform in all patients with suspected ARVC. Key findings: epsilon waves (V1–V3, best seen with Fontaine leads), T-wave inversion V1–V3, prolonged S-wave upstroke ≥55 ms in V1–V3. MBS Item 11707 (standard ECG) available in all Australian settings.

Available

Signal-Averaged ECG (SAECG)

Detects late ventricular potentials (filtered QRS duration, RMS voltage of terminal 40 ms, duration of low-amplitude signals). Abnormal SAECG contributes a minor depolarisation criterion. MBS Item 11710 available at major hospitals.

Available

24-Hour Holter Monitor

Quantifies PVC burden (>500/24 h is a minor criterion). Also detects non-sustained VT. MBS Item 11709 available. Extended monitoring (event recorder, 14-day patch) may capture additional arrhythmias.

Available

Exercise Stress Test

May provoke exercise-related VT (LBBB morphology). Useful for risk stratification and guiding activity restriction. MBS Item 11703.

Echocardiography

Transthoracic echocardiography is the first-line imaging modality. Findings may include regional RV wall motion abnormalities (aneurysm, dyskinesia), RVOT dilation (>32 mm parasternal or >36 mm PLAX), and reduced TAPSE (<17 mm). However, echocardiography has limited sensitivity for early/mild disease compared to cardiac MRI.

Cardiac MRI

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Gold standard imaging: Cardiac MRI with late gadolinium enhancement (LGE) is the gold standard for ARVC diagnosis, providing detailed assessment of RV morphology, function, and tissue characterisation (fatty infiltration, fibrosis).

Key MRI findings in ARVC:

Regional RV wall motion abnormalities (akinesia, dyskinesia, aneurysm) — typically affecting the sub-tricuspid area, RV apex, and RVOT (triangle of dysplasia)
RV dilatation and reduced RV ejection fraction (<40%)
Intra-myocardial fatty infiltration (T1-weighted spin-echo sequences with fat suppression)
LGE of the RV wall or LV myocardium indicating fibrosis
LV involvement: LGE in the inter-ventricular septum or LV free wall in up to 75% of patients

Australian availability: Cardiac MRI is available at all tertiary centres and many private radiology practices. MBS Item 63448 (MRI heart, structural) requires specific indication; prior echocardiography and/or ECG findings typically support the request. MRI with LGE requires a specialist radiologist reporting.

Genetic Testing

Essential

Targeted Desmosomal Gene Panel

Recommended for all patients meeting definite or borderline Task Force Criteria. Panel should include at minimum: PKP2, DSP, DSG2, DSC2, JUP. Expanded panels including TMEM43, PLN, DES, TTN are recommended. Testing available through Victorian Clinical Genetics Services (VCGS), SA Pathology, PathWest, and private providers (e.g., Sonic Genetics). MBS Item 73296 (genomic testing) may apply for medically relevant panels.

Essential

Cascade Family Screening

Once a pathogenic variant is identified in the proband, predictive genetic testing is offered to all first-degree relatives (parents, siblings, children). Pre- and post-test genetic counselling is mandatory per Australian Genetic Testing Network guidelines. Genotype-negative relatives can be reassured and discharged.

Specialist

Whole-Exome / Whole-Genome Sequencing

Reserved for genotype-negative patients with definite clinical ARVC. Identifies variants in non-desmosomal genes and novel genes. Conducted through research collaborations or specialised genetic services.

Endomyocardial Biopsy

Right ventricular endomyocardial biopsy (EMB) provides histological confirmation (fibrofatty replacement, <60% residual myocytes) and is a major TFC criterion when positive. However, EMB has limited sensitivity due to the patchy distribution of disease and the risk of RV perforation. It is reserved for diagnostic uncertainty when non-invasive investigations are inconclusive, and should be performed at experienced centres only.

Investigations Summary

Investigation	Sensitivity for ARVC	Key Role	MBS Item
Resting ECG	~90% (overt disease)	Initial screening, TFC criteria	11707
Echocardiography	~60–75%	First-line imaging, serial follow-up	55118
Cardiac MRI	~90–95%	Gold standard; tissue characterisation	63448
Holter Monitor	~80% (PVC detection)	Arrhythmia burden, VT morphology	11709
SAECG	~50–80%	Late potentials, depolarisation criteria	11710
Genetic Testing	~50–60%	Diagnosis confirmation, cascade screening	73296
EMB	~65–70%	Histological confirmation (selective use)	38235

Management (ICD, Antiarrhythmics, Activity Restriction)

General Principles

Management of ARVC centres on three pillars: (1) prevention of sudden cardiac death (ICD, activity restriction), (2) suppression of ventricular arrhythmias (antiarrhythmic drugs, catheter ablation), and (3) management of progressive heart failure (standard HF therapy, transplant assessment).

Implantable Cardioverter-Defibrillator (ICD)

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ICD indications are central to ARVC management. The ICD is the most effective therapy for prevention of SCD in ARVC. Device decisions require multidisciplinary discussion involving an electrophysiologist and cardiomyopathy specialist.

Indication	Class	Details
Survivor of cardiac arrest (VF/sustained VT)	I	Strongest indication; secondary prevention
Syncope presumed due to VT/VF	IIa	When other causes excluded; consider electrophysiology study
Non-sustained VT + additional risk factors	IIa	Risk factors: male, compound/digenic mutations, significant RV dysfunction, LV involvement
Asymptomatic genotype-positive with risk factors	IIb	Compound/digenic genotype, competitive athlete, familial SCD history
Asymptomatic, single mutation, no structural disease	III (not indicated)	Annual surveillance rather than ICD

Device considerations: Subcutaneous ICD (S-ICD) is increasingly used to avoid lead-related complications in the dilated and dysfunctional RV. Transvenous ICD with right-sided implantation remains an option. Anti-tachycardia pacing (ATP) programming should be cautious as aggressive pacing may accelerate ARVC. Programming prolonged detection intervals reduces inappropriate shocks. Remote monitoring is standard in Australia.

Antiarrhythmic Drug Therapy

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Sotalol

Sotacor® · Generic · Class III antiarrhythmic

Adult dose 80–160 mg PO BD; start 80 mg BD, titrate based on QT interval and response (max 320 mg/day)

Paediatric dose 2–4 mg/kg/day PO in divided doses (max 240 mg/day)

Route Oral

Key precautions Contraindicated if CrCl <40 mL/min (accumulate). Monitor QTc — hold if QTc >500 ms. Risk of pro-arrhythmia.

PBS status ✔ PBS General Benefit

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Amiodarone

Mundipharma® · Generic · Class III antiarrhythmic

Adult dose Load 200 mg PO TDS × 1 week → 200 mg BD × 1 week → maintenance 100–200 mg PO daily

Paediatric dose 10–15 mg/kg/day PO × 5–10 days (load) → maintenance 5 mg/kg/day

Route Oral (IV for acute VT)

Key precautions Long half-life (~40 days). Thyroid, liver, pulmonary toxicity. Baseline and 6-monthly TFTs, LFTs, CXR. Corneal microdeposits, photosensitivity.

PBS status ✔ PBS General Benefit

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Flecainide

Tambocor® · Generic · Class IC antiarrhythmic

Adult dose 50–150 mg PO BD

Paediatric dose 2–6 mg/kg/day PO in divided doses

Route Oral

Key precautions Avoid in structural heart disease unless combined with ICD. Negative inotrope. Contraindicated with significant LV dysfunction.

PBS status ✔ PBS General Benefit

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Class IC agents in ARVC: Flecainide may be used as adjunct therapy (particularly in combination with a beta-blocker) for PVC suppression in ARVC patients with an ICD, but is not recommended as sole therapy for sustained VT without device backup due to pro-arrhythmia risk.

Catheter Ablation

Catheter ablation is indicated for recurrent VT causing ICD shocks or drug-refractory VT. Epicardial ablation is often necessary as the substrate in ARVC frequently involves the sub-epicardial layer. Success rates are 60–70% at experienced centres, but recurrence rates remain high (~30–50%) due to progressive fibrofatty replacement. Endocardial–epicardial combined approaches achieve better outcomes. Referral to a high-volume electrophysiology centre is recommended.

Activity Restriction

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Activity restriction is the single most effective non-pharmacological intervention in ARVC. Exercise accelerates phenotypic expression, increases arrhythmia burden, and worsens RV structural progression. Complete cessation of competitive sport is recommended for all patients with definite, borderline, or possible ARVC.

1

All ARVC Patients

Complete cessation of competitive and high-intensity sport (including organised competitive sport and vigorous recreational exercise). This includes prolonged endurance activities, isometric activities (weightlifting), and exercise in high-temperature environments.

2

Genotype-Positive, Phenotype-Negative

Moderate exercise restriction recommended (avoid competitive sport; recreational exercise permitted at low-to-moderate intensity). Serial surveillance with annual ECG, Holter, and imaging.

3

Long-Term Monitoring

Assess compliance with activity restriction at each clinic visit. Provide written exercise prescription (gentle walking, swimming at leisure pace). Refer to cardiac rehabilitation for supervised activity guidance.

Heart Failure Management

Progressive RV and biventricular failure is managed according to standard heart failure guidelines:

ACE inhibitor (e.g., ramipril 2.5–10 mg daily) or ARB (e.g., valsartan 40–320 mg BD)
Beta-blocker (carvedilol 3.125–25 mg BD or bisoprolol 1.25–10 mg daily) — also for arrhythmia suppression
Diuretics for symptomatic fluid overload (frusemide 20–80 mg daily, spironolactone 25–50 mg daily)
Cardiac resynchronisation therapy (CRT) may be considered for biventricular failure with wide QRS >150 ms
Cardiac transplantation referral for refractory heart failure (conduit to transplant established early)

Treatment Algorithm

Cardiac arrest / sustained VT

ICD (Class I) + antiarrhythmic

Immediate

Catheter ablation if recurrent shocks

Syncope + non-sustained VT

ICD (Class IIa) + sotalol or amiodarone

Urgent (weeks)

Exclude other causes of syncope

Symptomatic non-sustained VT / palpitations

Sotalol (1st-line) or amiodarone (2nd-line)

Outpatient

ICD based on risk stratification

Asymptomatic genotype+/phenotype−

Activity restriction + serial surveillance

Annual

ECG, Holter, echo ± MRI annually

Special Populations

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Pregnancy

Risk: Arrhythmia risk increases during pregnancy and the peripartum period due to haemodynamic stress, catecholamine surges, and pro-arrhythmic effects of hormonal changes. Most women tolerate pregnancy without major complications, but those with prior VT or severe RV dysfunction are at higher risk.

Sotalol: Category C — generally considered safe; crosses placenta. Monitoring of maternal QTc and foetal heart rate recommended.

Amiodarone: Category D — use only when benefits outweigh risks; associated with foetal thyroid dysfunction, growth restriction, and bradycardia.

ICD: Should be in situ prior to conception if indicated. No contraindication to vaginal delivery. Electromagnetic interference during delivery is not clinically significant.

Genetic counselling: 50% transmission risk (autosomal dominant). Pre-conception counselling and PGD options should be discussed. Foetal echocardiography at 18–20 weeks.

Multidisciplinary management: obstetrician, cardiologist (ideally cardiomyopathy specialist), genetic counsellor, anaesthetist. Deliver at tertiary centre with cardiac ICU access.

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Paediatric ARVC

Diagnosis: Task Force Criteria validated in children ≥10 years. Diagnostic challenges in younger children — 2010 TFC may underperform; rely on serial imaging and genetics. Modified criteria have been proposed for paediatric ARVC.

Genetics: Compound/digenic mutations more frequently manifest in childhood. Recessive forms (Naxos, Carvajal) present in paediatric age.

Management: Activity restriction is crucial — children should avoid competitive sport. Antiarrhythmic dosing: sotalol 2–4 mg/kg/day or amiodarone 5 mg/kg/day maintenance. ICD in children presents unique challenges (body size, lead longevity, psychological impact). Subcutaneous ICD may be preferred in growing children. Regular reassessment of growth and device function.

Refer to paediatric cardiology/inherited cardiac disease clinics (Royal Children's Hospital Melbourne, Westmead Children's Hospital). Transition care to adult services at age 16–18 with structured programme.

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Elderly Patients

Diagnosis: Late-onset ARVC (>60 years) is rare but documented. More likely to present with heart failure than arrhythmia. Differentiate from ischaemic cardiomyopathy and age-related RV changes.

ICD: Decision to implant should consider overall frailty, comorbidities, life expectancy, and patient preference. ICD implantation in the very elderly (>80) is controversial.

Amiodarone: Increased sensitivity to QT prolongation. Thyroid toxicity risk rises with age. More frequent monitoring recommended.

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Renal Impairment

Sotalol: Contraindicated if CrCl <40 mL/min. Dose adjustment: CrCl 40–60 mL/min — reduce dose to 80 mg daily; CrCl 30–39 — 40 mg daily; CrCl <30 — avoid.

Amiodarone: No dose adjustment required; excreted hepatically. Monitor for additive QT prolongation with electrolyte disturbance.

Gadolinium (MRI): Gadolinium-based contrast agents — avoid linear agents if eGFR <30. Use macrocyclic agents (gadobutrol). Dialysis patients: gadolinium removed by haemodialysis.

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Hepatic Impairment

Amiodarone: Hepatotoxicity risk increases. Severe hepatic impairment is a relative contraindication. Monitor LFTs closely (ALT, AST, GGT). Hepatic steatosis on amiodarone may mimic ARVC fatty infiltration on MRI.

Sotalol: Renally cleared — no hepatic dose adjustment. Preferred over amiodarone in hepatic impairment.

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Immunocompromised Patients

General: No specific contraindications for ARVC medications. Endocarditis prophylaxis is NOT routinely indicated for ARVC alone (without valvular disease or prior endocarditis). ICD pocket infection risk may be marginally increased — ensure meticulous peri-procedural care.

Amiodarone: Immunosuppressive properties may complicate management in transplant recipients. Use with caution post-transplant.

Aboriginal and Torres Strait Islander Health Considerations

Aboriginal and Torres Strait Islander Health

Aboriginal and Torres Strait Islander peoples may experience delayed diagnosis and suboptimal management of inherited cardiac conditions including ARVC, due to systemic barriers in access to specialist cardiac and genetic services. While ARVC prevalence data specific to Indigenous Australians are limited, cardiovascular disease burden is significantly higher in this population, and inherited cardiomyopathies should not be overlooked.

Genetic testing access

Genetic testing for ARVC is primarily available in metropolitan centres. Remote and regional Indigenous communities face barriers to accessing genetic counselling and desmosomal gene testing. Telehealth genetic counselling services (e.g., Genetic Health Queensland telehealth, VCGS outreach) can partially bridge this gap.

Cardiac MRI availability

Cardiac MRI is largely unavailable in remote Australia. Transfer to a tertiary centre for diagnostic MRI may be required, with associated logistical and cultural barriers. Echocardiography and Holter monitoring are more widely accessible and may serve as initial screening tools.

Specialist electrophysiology services

Access to electrophysiology and cardiomyopathy specialists is limited outside metropolitan centres. NT and WA patients may require interstate referral. Aboriginal Medical Services should facilitate early referral when ARVC is suspected.

ICD implantation and follow-up

ICD implantation and remote monitoring require reliable telecommunications infrastructure. Device follow-up every 3–6 months via remote monitoring can be supplemented by fly-in/fly-out specialist visits. Travel assistance (Patient Assisted Travel Scheme — PATS in WA/NT) supports attendance at device checks.

Cultural considerations

Genetic testing raises specific cultural sensitivities around kinship, family obligation, and informed consent. Community engagement, Aboriginal Health Workers, and culturally appropriate genetic counselling (including use of interpreters for Aboriginal languages) are essential. Smoking cessation and management of comorbid conditions (diabetes, rheumatic heart disease) should be integrated with ARVC management.

Activity restriction in community context

Exercise restriction recommendations may conflict with cultural practices, community sport participation (especially in remote communities), and employment requiring physical exertion (e.g., pastoral work, mining). Individualised risk counselling with culturally safe communication is required. Explore modified activity programmes with cardiac rehabilitation teams.

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Key resources: RHDAustralia (rhdaustralia.org.au) provides resources on cardiovascular disease in Aboriginal and Torres Strait Islander communities. The National Indigenous Australians Agency funds cardiac outreach programmes. AIHW cardiovascular disease reports provide epidemiological context for planning services.

📚 References

1. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Circulation. 2010;121(13):1533-1541.
2. Corrado D, Link MS, Calkins H. Arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 2017;376(1):61-72.
3. Al-Khatib SM, Stevenson WG, Ackerman MJ, et al. 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Circulation. 2018;138(13):e272-e391.
4. Towbin JA, McKenna WJ, Abrams DJ, et al. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16(11):e301-e372.
5. 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.
6. Groeneweg JA, Bhonsale A, James CA, et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet. 2015;8(3):437-446.
7. Rizzo S, Pilichou K, Thiene G, Basso C. The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy. Cell Tissue Res. 2015;360(3):481-496.
8. Miles C, Finocchiaro G, Papadakis M, et al. Sudden death and left ventricular involvement in arrhythmogenic cardiomyopathy. Circulation. 2019;139(15):1786-1797.
9. Wijnmaalen AP, Zeppenfeld K, de Riva M, et al. Endocardial/epicardial versus epicardial-only catheter ablation for ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy. Europace. 2022;24(7):1150-1159.
10. Australian Institute of Health and Welfare (AIHW). Cardiovascular disease in Aboriginal and Torres Strait Islander people. Canberra: AIHW; 2023. Available at: aihw.gov.au.
11. Macfarlane PW, Antzelevitch C, Haissaguerre M, et al. The early repolarization pattern: a consensus paper. J Am Coll Cardiol. 2015;66(4):470-477.
12. Royal Australian College of General Practitioners (RACGP). Guidelines for preventive activities in general practice (Red Book). 10th edn. East Melbourne: RACGP; 2018.