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Table 2 Clinical features of affected members with familial arrhythmogenic right ventricular cardiomyopathy.

From: Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Subject

Age at diagnosis (yrs.)

Sex

Clinical presentation

ECG and EPS abnormalities

RV abnormalities on imaging studies

Pathological findings on endomyocardial biopsy or autopsy

Major criteria

Minor criteria

II:4

44

F

Asymptomatic

T wave inversion V1-3

None found on echo MRI not done

Not performed

0

2

II:7

44

F

Palpitations

T wave inversion V1-3

Mild right ventricular dilation with wall motion change and aneurismal abnormality on MRI

Not performed

0

3

III:2

16

M

Palpitations

T wave inversion V1-3 Epsilon wave, V1 VT with LBBB morphology Inducible VT

Dilated RV with hypokinetic outflow tract

Not performed

2

2

III:3

13

F

Palpitations

VT with LBBB morphology

Dilated RV with hypokinesia

Not performed

1

2

III:4

23

M

Palpitations, chest pain

T-wave inversion V1-5 PVCs with LBBB pattern

Dilated RV on echo

Fibrofatty replacement of RV myocardium on endomyocardial biopsy

1

4

III:6

21

M

Asymptomatic

 

Dilated RV on echo; Evidence of fatty infiltration of RV wall on MRI

Not performed

1

2

III:7

19

F

Syncope

Frequent PVCs (>1000/24hrs)

Dilated RV on echo and MRI; Fatty infiltration of RV wall on MRI

Not performed

1

4

III:9

16

F

Asymptomatic

None

Mild right ventricular dilation with wall motion change and aneurismal abnormality on MRI

Not performed

0

2

  1. Note: Echo, echocardiography; ECG, electrocardiogram; EPS, electrophysiological study; F, female; LBBB, left bundle branch block; M, male; MRI, magnetic resonance imaging; RV, right ventricle; VT, ventricular tachycardia; PVCs, premature ventricular complexes.