Skip to main content

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.