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Table 1 Clinical characteristics of the two families with recessively inherited ARVC associated with Thr335Ala in DSG2

From: Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

 

Age (M/F)

Genotype

QRS (ms)

BBB/eps

Repolarization abnormalities

SAECG

Ventricular arrhythmias

LVEDD & EF

CMR

Dilated RV

Fulfills 2010 criteria

Clinically examined

Other

Family 1

 I.1

M

(A/G)

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

-

No

Deceased

 I.2

86F

(A/G)

142

LBBB

No

n.a.

No

n.a.

n.a.

n.a.

No

No

Deceased

Heart failure

AFa

CADb

 II.1

45 M

A/G

102

No

No

n.a.

No

n.a.

n.a.

n.a.

No

Yes

 

 II.2

50 M

A/G

108

No

No

n.a.

No

58 mm50%

n.a.

No

No

Yes

 

 II.3

52 M

G/G

102

pRBBB

TI V1-V4

n.a.

Monomorphic VT of RVOT origin, VES 2800

61 mm

53%

RVEDV

322 ml

RVEF 39%

Yes

Yes

2 major 1 minor

Yes

Right ventricular scar in EPSc

ICDd

 II.4

53 M

G/G

92

No

TI V1-V3

LP 3/3

VES 1700

53 mm51%

RVEDVI

104 ml/m2

RVEF 37%

Yes

Yes

2 major

2 minor

Yes

Micro-aneurysms

 II.5

54F

G/G

86

No

TI V1-V2

n.a.

Monomorphic VT of RVOT origin, VF

45 mm

52%

n.a.

Yes

Yes

1 major

2 minor

Yes

Myocardial infarction

RV scar in EPS

ICD

 II.6

55F

A/G

88

No

No

n.a.

No

48 mm

53%

n.a.

No

No

Yes

 

 II.7

56F

A/A

82

No

No

n.a.

No

48 mm

70%

n.a.

No

No

Yes

 

 III.1

20 M

A/G

94

No

No

n.a.

No

43 mm

73%

n.a.

No

No

Yes

 

 III.2

22 M

A/G

88

No

No

n.a.

No

47 mm

66%

RVEDVI

76 ml/m2

RVEF n.a.

No

No

Yes

Collapse

 III.3

23F

A/G

86

No

No

n.a.

No

46 mm

69%

RVEDVI

82 ml/m2

RVEF n.a.

No

No

Yes

 

Family 2

 I.1

82 M

(G/a)

115

No

No

n.a.

VF

57 mm

40%

n.a.

No

No

No

Deceased

Stroke

Myocardial infarction

 I.2

76F

(G/a)

102

pRBBB

No

n.a.

No

n.a.

n.a.

n.a.

No

No

Deceased CAD

COPDe

 II.1

56 M

G/G

108

Epsilon wave

TI II, III, aVF

LP 3/3

Monomorphic VT

54 mm

52%

RVEDVI

151 ml/m2

RVEF 37%

Yes

Yes

3 major

1 minor

Yes

 

 II.2

56F

A/G

102

No

No

n.a.

No

43 mm

78%

RVEDVI

69 ml/m2

RVEF 67%

No

No

Yes

 

 II.3

57 M

?

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

n.a.

-

No

Deceased

Pulm. Ca

 II.4

58F

A/G

104

No

No

n.a.

No

48 mm

80%

n.a.

No

No

Yes

 

 II.5

59 M

G/G

108

No

No

LP 3/3

VES 1000, VF

53 mm

56%

RVEDVI

135 ml/m2

RVEF 37%

Yes

Yes

2 major

2 minor

Yes

CAD

Micro-aneurysms

RVOTf -aneurysm

 II.6

61 M

A/G

122

No

No

n.a.

No

54 mm

62%

RVEDVI

97 ml/m2

RVEF 64%

No

No

Yes

 
  1. Legend: Age (M/F) – age and gender (M, male; F, female); Genotype – G/G is homozygous for c.1003A > G, p.(Thr335Ala) in DSG2, A/G is heterozygous and A/A is wild type; QRS – QRS duration in milliseconds (ms); BBB/eps – presence of right/left bundle branch block (RBBB/LBBB) or epsilon wave; Repolarization abnormalities – T-inversions (TI) marked as ECG leads with abnormalities; SAECG – marked as LP for positive late potentials with the number of abnormal signal-averaged ECG 2010 Task Force Criteria fulfilled; Ventricular arrhythmias – VT for ventricular tachycardia, VF for ventricular fibrillation, number of ventricular extrasystoles (VES) per 24 h; LVEDD & EF – left ventricular end-diastolic diameter (mm) and ejection fraction (%) as measured by echocardiography; CMR – Cardiac magnetic resonance imaging data, represented by either right ventricular end-diastolic volume (RVEDV) or right ventricular end-diastolic volume index (RVEDVI) and right ventricular ejection fraction (RVEF) where applicable; Dilated RV – dilated right ventricle as measured by echocardiography or cardiac MRI by 2010 Task Force Criteria; Fulfills 2010 criteria – fulfillment of Task Force Criteria for definitive ARVC diagnosis, number or major or minor criteria fulfilled; Clinically examined – whether the person was clinically screened by the authors, or if the data provided only relies on medical records; Other – other significant clinical features
  2. aAtrial fibrillation
  3. bCoronary artery disease
  4. cElectrophysiological study
  5. dImplantable cardioverter defibrillator
  6. eChronic obstructive pulmonary disease
  7. fRight ventricular outflow tract