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Table 1 Clinical characteristics of ARVC subjects with mutations in desmosomal genes

From: Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

ARVC diagnostic criteria

Criteria fulfilled

Subject

  

Family I.1

Family II.1

Family II.2

Family III.1

Family III.2

Family IV.1

Sex

 

M

M

M

F

M

M

Age at diagnosis (years)

 

41

20

17

35

18

16

Global and regional dysfunction and structural alterations

Major

1

1

1

 

1

1

 

Minor

   

1

  

Tissue characterization

Major

  

1

 

NA

 
 

Minor

      

Repolarization abnormalities

Major

    

NA

 
 

Minor

      

Depolarization/conduction abnormalities

Major

    

NA

 
 

Minor

      

Arrhythmias

Major

1

1

1

 

NA

1

 

Minor

      

Family history

Major

 

1

1

NA

NA

 
 

Minor

      

Mutation

 

DSG2, c. 208A > G (Ile70Val), PKP2a, c.397 C > T (Gln133*)

DSC2, C.1234-35insA,(p.Thr412Asnfs*2)

DSC2, C.1234-35insA, (p.Thr412Asnfs*2)

PKP2, c.2540 delT, (p.Leu847Argfs*83)

PKP2, c.2540 delT, (p.Leu847Argfs*83)

PKP2, C.2197-2202delinsG, (p.His733Alafs*8)

Predicted functional effect

 

DSG2, Ile70Val, Benign

     

Mutation screening in 150 normal healthy controls

 

Absent

Absent

Absent

Absent

Absent

ND (reported earlier)

  1. M, male; F, female; NA, not available; ND, Not determined; †, novel mutations reported in this study; numbering, number of major or minor criteria filled