Arrhythmogenic Right Ventricular Cardiomyopathy

Slide 1 · Arrhythmogenic Right Ventricular Cardiomyopathy

An integrated approach to inheritance, myocardial pathology and arrhythmic disease

Desmosomal susceptibility → myocardial remodeling → arrhythmia

Dr Abu Suraih Sakhri

MBBS, MD (Pathology)

www.abusuraihsakhri.com

Slide 2 · Learning objectives

Explain how defective cell–cell junctions relate to a myocardial arrhythmogenic substrate.

Recognize right-ventricular wall attenuation and fibrofatty myocyte replacement.

Integrate morphology, family history, ECG, imaging, and molecular testing without overcalling isolated findings.

Distinguish classic ARVC from dilated cardiomyopathy and important phenocopies.

Molecular substrate

Morphologic hallmark

Arrhythmia / failure

Diagnostic integration

Organizing framework — interpret each domain clinically

Slide 3 · ARVC: Defining clinicopathologic lesion

A primary myocardial disorder with predominantly right-ventricular involvement in its classic form.

Loss of cardiomyocytes with fibrous and adipose replacement is the cardinal structural feature.

Electrical instability may cause ventricular tachyarrhythmia and sudden cardiac death.

Right-sided heart failure can emerge as disease advances.

Myocyte loss

Fibrofatty replacement

Arrhythmia / RV failure

Conceptual causal / diagnostic sequence

Slide 4 · Position among cardiomyopathy phenotypes

Pattern

Dominant structural change

Typical functional issue

Dilated cardiomyopathy

Chamber dilation; variable fibrosis

Reduced systolic function

Hypertrophic cardiomyopathy

Myocardial hypertrophy / disarray

Impaired filling ± obstruction

Classic ARVC

RV myocyte loss + fibrofatty scar

Arrhythmia ± RV failure

Phenotypes overlap; These are distinctions, not exclusive categories.

Slide 5 · ARVC is not exclusively a right-ventricular disease

The classic phenotype is right-ventricle predominant.

Left-ventricular involvement and left-sided failure can occur.

Biventricular and left-dominant arrhythmogenic phenotypes broaden the clinical spectrum.

Chamber-based names describe phenotype, not a rigid anatomic boundary.

RV

LV

Possible biventricular involvement

Simplified chamber schematic — not a gross specimen

Slide 6 · Electrical disease may precede pump failure

Ventricular arrhythmia can be the presenting manifestation before overt structural disease.

A preserved global ejection fraction does not eliminate arrhythmic risk.

The diagnostic assessment must evaluate electrical and structural abnormalities together.

Early electrical abnormalities

Detectable scar / regional dysfunction

Advanced pump impairment

Conceptual causal / diagnostic sequence

Slide 7 · The core disease sequence

This is a conceptual framework, not a proven one-directional mechanism for every genotype.

Inherited myocardial susceptibility

Cardiomyocyte junction dysfunction

Myocyte injury and loss

Fibrous / fatty replacement

Arrhythmogenic myocardium

Conceptual causal / diagnostic sequence

Different variants and environmental modifiers alter the phenotype.

Slide 8 · Autosomal-dominant inheritance predominates

ARVC as usually autosomal dominant.

Variable penetrance means a genotype-positive relative may have little or no clinical phenotype.

An apparently unaffected parent does not exclude inherited susceptibility.

Recessive syndromic forms are important exceptions.

Inheritance can be shared; Disease expression differs

Illustrative pedigree, not real-family evidence

Slide 9 · Variable penetrance versus variable expressivity

Penetrance: Whether the disease phenotype becomes clinically evident.

Expressivity: How severe and which manifestations occur among affected carriers.

Age, exercise exposure, genotype, and other modifiers help explain differing family presentations.

Do not equate lack of symptoms with absence of risk.

Same familial variant

Different age / exposure

Different clinical expression

Conceptual causal / diagnostic sequence

Slide 10 · The intercalated disk: A structural-electrical interface

Intercalated disks connect adjacent cardiomyocytes.

Desmosomes provide mechanical adhesion under repetitive contraction.

Disruption of junctional integrity can promote myocardial injury and electrical heterogeneity.

A schematic illustrates the concept; It is not an ultrastructural image.

CARDIOMYOCYTE

CARDIOMYOCYTE

DESMOSOME

Intercalated-disk linkage: Schematic only

Slide 11 · What a desmosome accomplishes

Transmembrane cadherins link adjacent myocardial cells.

Plaque proteins couple the membrane complex to intracellular filaments.

The junction supports tissue integrity during repetitive mechanical strain.

CARDIOMYOCYTE

CARDIOMYOCYTE

DESMOSOME

Intercalated-disk linkage: Schematic only

Slide 12 · Selected desmosomal genes in ARVC

Gene

Protein

Functional compartment

PKP2

Plakophilin-2

Desmosomal plaque

DSP

Desmoplakin

Plaque-to-filament link

DSG2

Desmoglein-2

Transmembrane cadherin

DSC2

Desmocollin-2

Transmembrane cadherin

JUP

Plakoglobin

Desmosomal plaque

Gene associations reflect established clinical evidence; Variant interpretation remains gene- and allele-specific.

Slide 13 · Plakophilin-2: Junctional plaque protein

PKP2 encodes plakophilin-2, a key desmosomal plaque component.

Pathogenic PKP2 variants are a major cause of classic ARVC.

The gene–disease association does not mean every PKP2 variant is pathogenic.

CARDIOMYOCYTE

CARDIOMYOCYTE

PKP2

Intercalated-disk linkage: Schematic only

Slide 14 · Desmoplakin links junctions to filaments

DSP encodes desmoplakin, connecting desmosomal plaque structures with intermediate filaments.

DSP-associated disease frequently includes substantial LV involvement.

Inflammation-like episodes may complicate differentiation from myocarditis.

CARDIOMYOCYTE

CARDIOMYOCYTE

DSP

Intercalated-disk linkage: Schematic only

Slide 15 · Desmoglein and desmocollin: Membrane adhesion

DSG2 and DSC2 encode desmosomal cadherins.

They mediate cell–cell junctional adhesion.

Most associated ARVC is autosomal dominant; Rare biallelic disease occurs.

CARDIOMYOCYTE

CARDIOMYOCYTE

DSG2 / DSC2

Intercalated-disk linkage: Schematic only

Slide 16 · Plakoglobin and the Naxos association

JUP encodes plakoglobin, a desmosomal component.

Biallelic pathogenic JUP variants underlie the recessive Naxos syndrome.

Naxos syndrome couples cardiomyopathy with palmoplantar keratoderma and characteristic woolly hair.

This syndromic exception helps link skin and cardiac desmosome biology.

JUP (biallelic)

Arrhythmogenic cardiomyopathy

Palmoplantar keratoderma

Woolly hair

Organizing framework — interpret each domain clinically

Slide 17 · Non-desmosomal contributors

DES encodes desmin, an intermediate-filament protein interacting with the junctional apparatus.

TMEM43 and PLN are among other established or moderately supported ARVC-associated genes.

Gene–phenotype interpretation depends on evidence for the specific gene and variant.

Not all clinically suspected cases receive a molecular diagnosis.

Gene validity

Pathogenic variant

Clinical phenotype

Family segregation

Organizing framework — interpret each domain clinically

Slide 18 · Mechanical coupling to tissue injury

The detailed molecular sequence varies across genotypes.

Avoid inferring a specific signaling pathway solely from the histologic phenotype.

Abnormal junction-associated protein

Impaired intercellular force transmission

Myocyte vulnerability / injury

Fibrosis and cell loss

Conceptual causal / diagnostic sequence

Slide 19 · Why myocyte loss matters

Contracting myocardium is progressively replaced by noncontractile tissue.

Patchy surviving cardiomyocyte bundles become separated by fibrosis.

Both ventricular mechanics and electrical conduction can be affected.

Fat and scar are not interchangeable biological components.

Myocytes

Collagen scar

Adipocytes

Conceptual tissue schematic — not histology or a patient specimen

Slide 20 · How structural remodeling favors arrhythmia

Replacement fibrosis provides an arrhythmogenic substrate.

Anatomic scar burden and electrical risk are related but not identical.

Discontinuous surviving myocyte bundles

Spatially heterogeneous conduction

Potential re-entry / ventricular tachycardia

Conceptual causal / diagnostic sequence

Slide 21 · Exercise is a clinically relevant modifier

High-intensity endurance exercise is associated with greater phenotype expression and ventricular arrhythmia risk in ARVC.

The 2019 HRS consensus addresses exercise restriction in affected individuals.

Activity counseling is individualized; Risk is not captured by genetics alone.

Genetic susceptibility

High-intensity exercise exposure

Phenotype / arrhythmia risk

Conceptual causal / diagnostic sequence

Slide 22 · Described clinical progression

These are conceptual phases; Patients do not necessarily traverse every phase in order.

Concealed / minimally detectable stage

Overt ventricular arrhythmias

Right-ventricular dysfunction

Potential biventricular pump failure

Conceptual causal / diagnostic sequence

Slide 23 · Gross hallmark: Right-ventricular wall attenuation

Loss of contractile myocardium can leave the RV free wall markedly thin.

The right ventricle may be dilated, sometimes greatly.

Near-transmural fibrofatty replacement is illustrated Fig. 12.31.

Severe dilation can resemble dilated cardiomyopathy.

RV

LV

Classic RV-predominant remodeling

Simplified chamber schematic — not a gross specimen

Slide 24 · Gross distribution is often regionally uneven

Classic sites include the RV inflow/free wall, outflow tract, and apex.

Regional thinning, dilation, and aneurysmal change may coexist.

A grossly unremarkable zone does not rule out adjacent disease.

RV inflow / free wall

RV outflow tract

RV apex

LV can also be involved

Organizing framework — interpret each domain clinically

Slide 25 · Native gross schematic: Progressive remodeling

The conceptual diagram contrasts an intact RV wall with fibrofatty thinning.

It illustrates distribution, not a measured wall thickness or patient specimen.

Robbins’ authentic Fig. 12.31 is the source description for near-transmural replacement.

Preserved RV wall

ARVC: Attenuated wall

Slide 26 · Histology: Myocyte dropout

Residual myocardium may be fragmented into discontinuous islands.

Myocyte loss is the primary alteration; Adipose tissue alone is not diagnostic.

Use the degree and distribution of myocardial replacement, not a fat-only impression.

Myocytes

Collagen scar

Adipocytes

Conceptual tissue schematic — not histology or a patient specimen

Slide 27 · Histology: Replacement fibrosis

Collagen-rich scar replaces lost myocardium.

Fibrosis may surround residual bundles of viable cardiomyocytes.

This architectural discontinuity supplies a substrate for abnormal electrical propagation.

Myocytes

Collagen scar

Adipocytes

Conceptual tissue schematic — not histology or a patient specimen

Slide 28 · Histology: Fatty replacement

Adipocytes accompany the fibrotic replacement process in classic ARVC.

Fat-containing replacement can involve much of the RV wall.

The relevant lesion is fibrofatty myocardial replacement in the proper clinical context.

Myocytes

Collagen scar

Adipocytes

Conceptual tissue schematic — not histology or a patient specimen

Slide 29 · What Masson trichrome can demonstrate

In the Robbins figure description, myocytes stain red while collagen is blue.

Adipose tissue appears as clear spaces after routine tissue processing.

The stain can help separate fibrosis from retained viable myocardium.

The schematic shown is not an authentic stained section.

Myocytes

Collagen scar

Adipocytes

Conceptual tissue schematic — not histology or a patient specimen

Slide 30 · Microscopic inflammation is not the defining cause

Mononuclear inflammatory cells can surround degenerating cardiomyocytes.

Robbins explicitly does not classify ARVC as primarily inflammatory.

An inflammatory infiltrate alone does not establish myocarditis as the primary disease.

Myocyte degeneration

Secondary inflammation possible

Primary desmosomal disease remains plausible

Conceptual causal / diagnostic sequence

Slide 31 · Interpretation pitfall: RV fat is nonspecific

Physiologic or age-related RV adipose tissue may be encountered.

Fat without fibrosis and demonstrable myocyte loss is not sufficient for ARVC.

Sampling, topography, and clinical context prevent overdiagnosis.

Finding alone

Specificity limitation

Corroborating evidence

Differential diagnosis

Organizing framework — interpret each domain clinically

Slide 32 · Histologic sampling is inherently limited

ARVC may be patchy, so a biopsy can miss disease.

Biopsy of the thin RV free wall also carries procedural limitations.

A negative specimen does not independently exclude a multisystem-criterion diagnosis.

Patchy RV lesions

Limited biopsy area

False negative risk

Multimodal diagnosis

Organizing framework — interpret each domain clinically

Slide 33 · Left-ventricular involvement changes the phenotype

Fibrofatty myocardial changes need not remain confined to the right ventricle.

LV-dominant disease is recognized within the broader arrhythmogenic cardiomyopathy spectrum.

Some genotypes, particularly DSP, show increased LV involvement.

RV

LV

LV-predominant variant

Simplified chamber schematic — not a gross specimen

Slide 34 · Morphologic comparison: ARVC versus DCM

Finding

Classic ARVC

Typical DCM

Main distribution

RV-predominant; LV possible

Often diffuse chamber involvement

Histology

Fibrofatty replacement + myocyte loss

Nonspecific myocyte change + fibrosis

Functional emphasis

Arrhythmia may precede failure

Global systolic dysfunction prominent

Overlap

Advanced chamber dilation

Can mimic arrhythmogenic phenotype

Classification should integrate genetics, morphology, imaging and rhythm data.

Slide 35 · Differential diagnoses and useful discriminators

Mimic

Overlap

Important discriminator

Idiopathic DCM

Ventricular dilation, arrhythmia

Fibrofatty distribution and genotype

Myocarditis

Inflammation, scar, VT

Clinical course, tissue pattern, inflammation

Cardiac sarcoidosis

Scar, conduction disease, VT

Granulomas or extracardiac evidence

Athlete-related RV adaptation

Enlarged RV

Physiology plus absence of corroborating criteria

Slide 36 · Why focal myocarditis is a genuine phenocopy

Both myocarditis and arrhythmogenic cardiomyopathy can manifest with ventricular arrhythmia.

Fibrosis and inflammation are not exclusive to either disorder.

Certain DSP genotypes can produce inflammatory presentations.

Diagnosis requires an integrated phenotype rather than one tissue feature.

Shared inflammation

Scar pattern

Genotype

Extracardiac findings

Organizing framework — interpret each domain clinically

Slide 37 · Clinical presentation: Palpitations and syncope

Palpitations may reflect premature ventricular beats or ventricular tachycardia.

Syncope, especially unexplained or exertional, warrants serious evaluation.

The earliest symptoms may be electrical rather than congestive.

Family history can supply the initial clue.

Palpitations

Presyncope / syncope

VT/VF

Heart failure

Organizing framework — interpret each domain clinically

Slide 38 · Ventricular tachycardia: Chamber-of-origin clue

Ventricular rhythms arising in the RV commonly produce a left bundle branch block (LBBB)-like QRS morphology.

QRS configuration helps localize origin but is not diagnostic in isolation.

Documented morphology and axis contribute to formal diagnostic criteria.

RV ventricular origin

LBBB-like QRS

Assess axis

Clinical context

Organizing framework — interpret each domain clinically

Slide 39 · Sudden cardiac death is a major clinical concern

Malignant ventricular tachyarrhythmias can lead to sudden cardiac death.

Serious events may occur before severe heart failure.

Syncope, sustained arrhythmia, ventricular dysfunction, and family factors enter risk assessment.

VT / VF

Syncope

Potential SCD

Individualized risk

Organizing framework — interpret each domain clinically

Slide 40 · Right-sided failure: A structural consequence

Extensive RV myocyte loss impairs contractile function.

RV dilation can accompany reduced pump performance.

Progression may produce systemic venous congestion and reduced forward flow.

Some patients develop concomitant LV dysfunction.

RV

LV

Classic RV-predominant remodeling

Simplified chamber schematic — not a gross specimen

Slide 41 · When should ARVC be considered?

Unexplained ventricular tachycardia with RV-origin morphology.

Young or middle-aged person with syncope and family history of sudden death.

Disproportionate RV abnormalities on echo/CMR.

Relatives of a person with confirmed ARVC or a familial pathogenic variant.

Syncope / VT

Family history

RV imaging

Genetic context

Organizing framework — interpret each domain clinically

Slide 42 · Diagnosis uses converging evidence

No single routine test definitively establishes or excludes the disorder.

Clinical and family history

12-lead ECG / ambulatory rhythm

Echocardiography / cardiac MRI

Molecular genetics ± tissue analysis

Conceptual causal / diagnostic sequence

Slide 43 · ECG: Repolarization abnormalities

T-wave inversion in right precordial leads is one diagnostic category.

The lead distribution, age, and presence of complete right bundle branch block affect interpretation.

An isolated abnormal T wave is not synonymous with ARVC.

Lead distribution

Pubertal stage / age

Bundle branch status

Corroborating domains

Organizing framework — interpret each domain clinically

Slide 44 · ECG: Depolarization abnormalities

Epsilon waves are low-amplitude terminal signals after the QRS complex.

They are a recognized criterion but should not be interpreted outside an experienced ECG assessment.

Electrical criteria are integrated with imaging and clinical history.

QRS terminus

Low-amplitude signal

Right precordial leads

Not standalone proof

Organizing framework — interpret each domain clinically

Slide 45 · Ambulatory rhythm monitoring

Holter or longer monitoring may document premature ventricular complexes and nonsustained VT.

Arrhythmia morphology, burden, and symptoms provide complementary information.

A normal short recording does not eliminate intermittent ventricular arrhythmias.

PVC burden

Nonsustained VT

Sustained VT

Symptom–rhythm relation

Organizing framework — interpret each domain clinically

Slide 46 · Echocardiography evaluates RV function

Look for RV enlargement and regional wall-motion abnormalities.

Regional akinesia, dyskinesia, or aneurysm may support a diagnostic pattern.

The thin, complex RV geometry can make subtle abnormalities difficult to measure.

RV dimensions

Regional motion

Regional aneurysm

Measurement context

Organizing framework — interpret each domain clinically

Slide 47 · Cardiac MRI: Morphology and tissue

CMR evaluates RV and LV chamber size, contraction, and regional motion.

Late gadolinium enhancement (LGE) detects a scar-compatible myocardial tissue pattern.

Interpret imaging abnormalities alongside ECG, genetics, and clinical data.

RV + LV size

Regional motion

Scar (LGE)

Integrated interpretation

Organizing framework — interpret each domain clinically

Slide 48 · MRI fat signal alone is not a diagnostic shortcut

The Padua approach emphasizes regional structural/functional change and myocardial scar.

Isolated fat signal lacks sufficient specificity to diagnose ARVC.

Scar distribution, image quality, and alternative diagnoses matter.

Finding alone

Specificity limitation

Corroborating evidence

Differential diagnosis

Organizing framework — interpret each domain clinically

Slide 49 · The Padua criteria: Six evidence domains

Morphofunctional ventricular abnormalities.

Myocardial structural/tissue characterization.

Repolarization and depolarization ECG changes.

Ventricular arrhythmias and family/genetic findings.

Morphofunction

Tissue / scar

Repolarization

Depolarization

Arrhythmias

Family / genetics

Organizing framework — interpret each domain clinically

Slide 50 · Padua interpretation needs structural corroboration

Padua criteria recognize both RV and LV phenotypes.

At least one morphofunctional or structural criterion is required to diagnose arrhythmogenic cardiomyopathy.

Major and minor findings are combined across diagnostic categories.

Do not use a purely electrical finding to assign a structural disease phenotype.

RV features

LV features

Structural criterion

Major / minor combination

Organizing framework — interpret each domain clinically

Slide 51 · 2010 Task Force and 2020 Padua: Not identical

The 2010 Task Force criteria focused on the classic RV phenotype.

The 2020 Padua framework explicitly incorporates LV tissue characterization.

Use one named framework consistently when describing diagnostic certainty.

Criteria are not interchangeable by copying isolated cutoffs.

2010: RV focus

2020: RV + LV phenotypes

Both: Integrated assessment

Conceptual causal / diagnostic sequence

Slide 52 · Genetic testing: The right interpretation

A pathogenic or likely pathogenic variant in a validated gene can support diagnosis.

A variant of uncertain significance does not confirm or exclude disease.

A negative gene panel does not rule out a clinically compelling phenotype.

Test the affected proband first when possible.

Gene validity

Pathogenic variant

Clinical phenotype

Family segregation

Organizing framework — interpret each domain clinically

Slide 53 · Variant interpretation is not gene-name matching

The gene–disease association must be established.

Variant pathogenicity requires classification using clinical and molecular evidence.

Penetrance and phenotype influence interpretation.

A genetic result must be reconciled with ECG, imaging and family history.

Gene–disease validity

Variant classification

Phenotypic match

Family segregation

Organizing framework — interpret each domain clinically

Slide 54 · Family screening is a longitudinal process

First-degree relatives are offered ECG and cardiac imaging assessment.

When a familial pathogenic variant exists, cascade genetic testing may be used.

Genotype-positive relatives require periodic clinical surveillance.

An isolated negative examination early in life may be insufficient.

Inheritance can be shared; Disease expression differs

Illustrative pedigree, not real-family evidence

Slide 55 · Risk assessment is not a single biomarker

Prior sustained VT/VF and arrhythmic syncope are key clinical concerns.

Ventricular function, arrhythmia burden, genotype, and family context influence assessment.

Decisions about an implantable cardioverter–defibrillator require specialist evaluation.

Avoid extrapolating group-risk statistics to an individual without validated assessment.

Prior events

Arrhythmia burden

Ventricular function

Expert shared decisions

Organizing framework — interpret each domain clinically

Slide 56 · Core management principles

Individualized reduction of strenuous exercise exposure where advised.

Arrhythmia management and consideration of an ICD in appropriately selected patients.

Treatment of ventricular dysfunction and heart failure when present.

Coordinated cardiology, electrophysiology and genetics follow-up.

Exercise advice

Arrhythmia / ICD

HF care

Genetic / family care

Organizing framework — interpret each domain clinically

Slide 57 · Pathology report: What is worth documenting?

Distribution of RV versus LV involvement and chamber dimensions.

Extent and location of viable cardiomyocyte loss, fibrosis, and adipose replacement.

Presence and characterization of inflammation and other competing lesions.

Correlate pathologic suspicion with familial, genetic and clinical findings.

Distribution

Myocyte loss

Fibrosis + fat

Differential lesions

Organizing framework — interpret each domain clinically

Slide 58 · Clinical application: An arrhythmia-first presentation

A 29-year-old has recurrent exertional palpitations and unexplained syncope.

A sibling died suddenly in early adulthood; The cause was never established.

Echocardiography raises suspicion for regional RV dysfunction.

Question: Which test domains should be assembled before assigning a diagnosis?

Slide 59 · Case interpretation: Assemble independent domains

Obtain a detailed family pedigree and review available prior records.

Document 12-lead ECG findings and ventricular arrhythmias with ambulatory monitoring.

Characterize RV and LV morphology, function and scar with expert imaging.

Offer genetic counseling and suitable panel testing; Adjudicate against a named framework.

Slide 60 · Histology application: What does the lesion mean?

Specimen description: Thin RV wall; Surviving red-staining myocytes amid blue collagen and adipocytes.

This combination supports fibrofatty myocardial replacement in the appropriate setting.

Question: Would abundant adipocytes alone establish ARVC?

Answer: No—evaluate myocyte loss, fibrosis, distribution, and other findings.

Slide 61 · Integrated synthesis: Genotype to clinical phenotype

Desmosomal and related protein variants can weaken cardiomyocyte junctional integrity.

Myocyte injury and replacement produce a heterogeneous arrhythmogenic substrate.

Electrical instability may become evident before advanced pump failure.

Diagnosis is strongest when morphology, electrical data, imaging and genetics converge.

Junctional susceptibility

Myocyte loss / scar

Electrical + mechanical phenotype

Conceptual causal / diagnostic sequence

Slide 62 · High-yield diagnostic cautions

Fat in the right ventricle by itself is not ARVC.

Normal global RV function does not exclude an early arrhythmogenic phenotype.

A variant of uncertain significance is not equivalent to a pathogenic variant.

Inflammation does not automatically make the primary diagnosis myocarditis.

Fat ≠ diagnosis

Normal EF ≠ safe

VUS ≠ positive

Inflammation ≠ primary cause

Organizing framework — interpret each domain clinically

Slide 63 · Selected references

Robbins, Cotran & Kumar. Pathologic Basis of Disease. 11th ed., Ch. 12, pp. 519–520, Fig. 12.31.

McNally E, MacLeod H, Dellefave-Castillo L. ARVC Overview. GeneReviews. Updated 2023.

Corrado D et al. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria. Int J Cardiol. 2020;319:106–114.

Towbin JA et al. HRS expert consensus statement on arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16:e301–e372.

Graziano F et al. The 2020 Padua criteria in clinical practice. J Clin Med. 2022;11:279.

2023 ESC Guidelines for management of cardiomyopathies. Eur Heart J. 2023;44:3503–3626.

ARVC Post-Mortem Assessment: A Systematic Review. Int J Mol Sci. 2024;25:2467.