Table 1 Open in new tab Characteristics...

ECG(⁴)

Arrhythmias

Cardiac magnetic resonance imaging^2,5

Clinical phenotype¹⁶

Risk of sudden cardiac death
Arrhythmic risk predictors
Prognostic scores

Desmosomal Genes
(50% of cases)

PKP2
DSG2
DSC2
DSP
JUP

Negative T waves in anterior and infero-lateral leads
Low QRS voltages in peripheral and precordial leads

Frequent ventricular extrasystoles
Major ventricular arrhythmias
NSVT

LGE with non-ischemic or circumferential pattern in LV
(‘Ring-like’ pattern)
LGE in isolated RV

ARVC, ALVC, ACM-BiV
DCM (3.5%)
‘Hot phases’

Annual risk of sudden cardiac death, depending on risk factors (>10% if ACR due to VF or sVT, 1–10% if severe RV or LV dysfunction, NSVT, induction of major ventricular arrhythmias at electrophysiological study, syncope, ventricular extrasystoles >1000/24 h, male sex, negative T wave extension, presence of multiple desmosomal mutations)⁸

ARVC risk score¹⁷(https://arvcrisk.com/)
DSP risk score¹⁸

Non-desmosomal genes

LMNA

Sinus bradycardia
AV blocks
Left bundle branch block

Supraventricular arrhythmias (atrial fibrillation, atrial flutter, atrial tachycardia)
Frequent ventricular extrasystoles
Major ventricular arrhythmias

LGE with non-ischemic pattern

ALVC, ARVC, ABVC
DCM

Sudden cardiac death risk per year: 5–10%²
Male sex
Non-missense mutation
AV blocks
NSVT
LVEF
5-years risk score¹⁹ (https://lmna-risk-vta.fr/)

FLNC

Negative T waves in anterior and infero-lateral leads
Low voltages QRS in peripheral leads

Frequent ventricular extrasystoles
Major ventricular arrhythmias

LGE with non-ischemic or circumferential pattern
(‘Ring-like’ pattern)

ALVC, ARVC, ABVC
DCM

Sudden cardiac death risk per year: 5–10%²
Presence of LGE
LVEF < 45%
Male sex
Older age
NSVT
Previous syncope

FLNC truncating variants risk score (https://flnctv.shinyapps.io/RiskCalculator/)

TMEM43

Major ventricular arrhythmias

LGE with non-ischemic pattern

ABVC

Sudden cardiac death risk per year: 5–10%²
Male sex
Female sex + one additional factor among LVEF <45%, NSVT, LGE, > 200 ventricular extrasystoles on 24-h Holter ECG

RBM20

Major ventricular arrhythmias

LGE with non-ischemic pattern

Annual risk of sudden cardiac death: 3–5%²
Male sex
Presence of LGE
LVEF < 45%

PLN

Low QRS voltages in peripheral and precordial leads
Poor R wave progression in precordial leads

Major ventricular arrhythmias

LGE with non-ischemic or circumferential pattern
(‘Ring-like’ pattern)

ABVC

Annual risk of sudden cardiac death: 3–5%²
Presence of LGE
LVEF < 45%
NSVT

5-years risk score (variant p.Arg14del)²⁰ (https://www.acm-risk.com/pln_risk.html)

ECG(⁴)

Arrhythmias

Cardiac magnetic resonance imaging^2,5

Clinical phenotype¹⁶

Risk of sudden cardiac death
Arrhythmic risk predictors
Prognostic scores

Desmosomal Genes
(50% of cases)

PKP2
DSG2
DSC2
DSP
JUP

Negative T waves in anterior and infero-lateral leads
Low QRS voltages in peripheral and precordial leads

Frequent ventricular extrasystoles
Major ventricular arrhythmias
NSVT

LGE with non-ischemic or circumferential pattern in LV
(‘Ring-like’ pattern)
LGE in isolated RV

ARVC, ALVC, ACM-BiV
DCM (3.5%)
‘Hot phases’

ARVC risk score¹⁷(https://arvcrisk.com/)
DSP risk score¹⁸

Non-desmosomal genes

LMNA

Sinus bradycardia
AV blocks
Left bundle branch block

Supraventricular arrhythmias (atrial fibrillation, atrial flutter, atrial tachycardia)
Frequent ventricular extrasystoles
Major ventricular arrhythmias

LGE with non-ischemic pattern

ALVC, ARVC, ABVC
DCM

Sudden cardiac death risk per year: 5–10%²
Male sex
Non-missense mutation
AV blocks
NSVT
LVEF
5-years risk score¹⁹ (https://lmna-risk-vta.fr/)

FLNC

Negative T waves in anterior and infero-lateral leads
Low voltages QRS in peripheral leads

Frequent ventricular extrasystoles
Major ventricular arrhythmias

LGE with non-ischemic or circumferential pattern
(‘Ring-like’ pattern)

ALVC, ARVC, ABVC
DCM

Sudden cardiac death risk per year: 5–10%²
Presence of LGE
LVEF < 45%
Male sex
Older age
NSVT
Previous syncope

FLNC truncating variants risk score (https://flnctv.shinyapps.io/RiskCalculator/)

TMEM43

Major ventricular arrhythmias

LGE with non-ischemic pattern

ABVC

Sudden cardiac death risk per year: 5–10%²
Male sex
Female sex + one additional factor among LVEF <45%, NSVT, LGE, > 200 ventricular extrasystoles on 24-h Holter ECG

RBM20

Major ventricular arrhythmias

LGE with non-ischemic pattern

Annual risk of sudden cardiac death: 3–5%²
Male sex
Presence of LGE
LVEF < 45%

PLN

Low QRS voltages in peripheral and precordial leads
Poor R wave progression in precordial leads

Major ventricular arrhythmias

LGE with non-ischemic or circumferential pattern
(‘Ring-like’ pattern)

ABVC

Annual risk of sudden cardiac death: 3–5%²
Presence of LGE
LVEF < 45%
NSVT

5-years risk score (variant p.Arg14del)²⁰ (https://www.acm-risk.com/pln_risk.html)

Table 1

Open in new tab

Characteristics of the main desmosomal and non-desmosomal genes associated with arrhythmogenic cardiomyopathy

		ECG(⁴)	Arrhythmias	Cardiac magnetic resonance imaging^2,5	Clinical phenotype¹⁶	Risk of sudden cardiac death Arrhythmic risk predictors Prognostic scores
Desmosomal Genes (50% of cases)	PKP2 DSG2 DSC2 DSP JUP	Negative T waves in anterior and infero-lateral leads Low QRS voltages in peripheral and precordial leads	Frequent ventricular extrasystoles Major ventricular arrhythmias NSVT	LGE with non-ischemic or circumferential pattern in LV (‘Ring-like’ pattern) LGE in isolated RV	ARVC, ALVC, ACM-BiV DCM (3.5%) ‘Hot phases’	Annual risk of sudden cardiac death, depending on risk factors (>10% if ACR due to VF or sVT, 1–10% if severe RV or LV dysfunction, NSVT, induction of major ventricular arrhythmias at electrophysiological study, syncope, ventricular extrasystoles >1000/24 h, male sex, negative T wave extension, presence of multiple desmosomal mutations)⁸ ARVC risk score¹⁷(https://arvcrisk.com/) DSP risk score¹⁸
Non-desmosomal genes	LMNA	Sinus bradycardia AV blocks Left bundle branch block	Supraventricular arrhythmias (atrial fibrillation, atrial flutter, atrial tachycardia) Frequent ventricular extrasystoles Major ventricular arrhythmias	LGE with non-ischemic pattern	ALVC, ARVC, ABVC DCM	Sudden cardiac death risk per year: 5–10%² Male sex Non-missense mutation AV blocks NSVT LVEF 5-years risk score¹⁹ (https://lmna-risk-vta.fr/)
	FLNC	Negative T waves in anterior and infero-lateral leads Low voltages QRS in peripheral leads	Frequent ventricular extrasystoles Major ventricular arrhythmias	LGE with non-ischemic or circumferential pattern (‘Ring-like’ pattern)	ALVC, ARVC, ABVC DCM	Sudden cardiac death risk per year: 5–10%² Presence of LGE LVEF < 45% Male sex Older age NSVT Previous syncope FLNC truncating variants risk score (https://flnctv.shinyapps.io/RiskCalculator/)
	TMEM43		Major ventricular arrhythmias	LGE with non-ischemic pattern	ABVC	Sudden cardiac death risk per year: 5–10%² Male sex Female sex + one additional factor among LVEF <45%, NSVT, LGE, > 200 ventricular extrasystoles on 24-h Holter ECG
	RBM20		Major ventricular arrhythmias	LGE with non-ischemic pattern	ACM DCM	Annual risk of sudden cardiac death: 3–5%² Male sex Presence of LGE LVEF < 45%
	PLN	Low QRS voltages in peripheral and precordial leads Poor R wave progression in precordial leads	Major ventricular arrhythmias	LGE with non-ischemic or circumferential pattern (‘Ring-like’ pattern)	ABVC	Annual risk of sudden cardiac death: 3–5%² Presence of LGE LVEF < 45% NSVT 5-years risk score (variant p.Arg14del)²⁰ (https://www.acm-risk.com/pln_risk.html)

		ECG(⁴)	Arrhythmias	Cardiac magnetic resonance imaging^2,5	Clinical phenotype¹⁶	Risk of sudden cardiac death Arrhythmic risk predictors Prognostic scores
Desmosomal Genes (50% of cases)	PKP2 DSG2 DSC2 DSP JUP	Negative T waves in anterior and infero-lateral leads Low QRS voltages in peripheral and precordial leads	Frequent ventricular extrasystoles Major ventricular arrhythmias NSVT	LGE with non-ischemic or circumferential pattern in LV (‘Ring-like’ pattern) LGE in isolated RV	ARVC, ALVC, ACM-BiV DCM (3.5%) ‘Hot phases’	Annual risk of sudden cardiac death, depending on risk factors (>10% if ACR due to VF or sVT, 1–10% if severe RV or LV dysfunction, NSVT, induction of major ventricular arrhythmias at electrophysiological study, syncope, ventricular extrasystoles >1000/24 h, male sex, negative T wave extension, presence of multiple desmosomal mutations)⁸ ARVC risk score¹⁷(https://arvcrisk.com/) DSP risk score¹⁸
Non-desmosomal genes	LMNA	Sinus bradycardia AV blocks Left bundle branch block	Supraventricular arrhythmias (atrial fibrillation, atrial flutter, atrial tachycardia) Frequent ventricular extrasystoles Major ventricular arrhythmias	LGE with non-ischemic pattern	ALVC, ARVC, ABVC DCM	Sudden cardiac death risk per year: 5–10%² Male sex Non-missense mutation AV blocks NSVT LVEF 5-years risk score¹⁹ (https://lmna-risk-vta.fr/)
	FLNC	Negative T waves in anterior and infero-lateral leads Low voltages QRS in peripheral leads	Frequent ventricular extrasystoles Major ventricular arrhythmias	LGE with non-ischemic or circumferential pattern (‘Ring-like’ pattern)	ALVC, ARVC, ABVC DCM	Sudden cardiac death risk per year: 5–10%² Presence of LGE LVEF < 45% Male sex Older age NSVT Previous syncope FLNC truncating variants risk score (https://flnctv.shinyapps.io/RiskCalculator/)
	TMEM43		Major ventricular arrhythmias	LGE with non-ischemic pattern	ABVC	Sudden cardiac death risk per year: 5–10%² Male sex Female sex + one additional factor among LVEF <45%, NSVT, LGE, > 200 ventricular extrasystoles on 24-h Holter ECG
	RBM20		Major ventricular arrhythmias	LGE with non-ischemic pattern	ACM DCM	Annual risk of sudden cardiac death: 3–5%² Male sex Presence of LGE LVEF < 45%
	PLN	Low QRS voltages in peripheral and precordial leads Poor R wave progression in precordial leads	Major ventricular arrhythmias	LGE with non-ischemic or circumferential pattern (‘Ring-like’ pattern)	ABVC	Annual risk of sudden cardiac death: 3–5%² Presence of LGE LVEF < 45% NSVT 5-years risk score (variant p.Arg14del)²⁰ (https://www.acm-risk.com/pln_risk.html)

ACR, cardiocirculatory arrest; ABVC, arrhythmogenic biventricular cardiomyopathy; ALVC, arrhythmogenic left ventricular cardiomyopathy; AV, atrioventricular; ACM, arrhythmogenic cardiomyopathy; CMP, cardiomyopathy; DCM, dilated cardiomyopathy; LVEF, left ventricular ejection fraction; VF, ventricular fibrillation; LGE, late gadolinium enhancement; LV, left ventricle; NSVT, non-sustained ventricular tachycardia; sVT, sustained ventricular tachycardia; RV, right ventricle.

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