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. Author manuscript; available in PMC: 2012 Aug 23.
Published in final edited form as: Circulation. 2011 Aug 1;124(8):876–885. doi: 10.1161/CIRCULATIONAHA.110.005405

Table 2a, b.

Clinical phenotype of study subjects

Family TSRVD001 TSRVD001 TSRVD001 TSRVD001 TSRVD001 TSRVD001 TSRVD001
Individual III-1 III-3 IV-3 IV-4 IV-6 IV-7 V-3
Gender Male Female Male Male Female Male Female
Patient Mutation Thr2896Ile NA Thr2896Ile Thr2896Ile Thr2896Ile Thr2896Ile Thr2896Ile
ARVD CRITERIA 3M 2m 3M 3m No 3M 1m 3M 1m 3M 2m 1M 4m
Age at onset 49 51 -- 41 30 29 19
Age at diagnosis 50 58 52 41 39 37 19
Exertional Dyspnea Yes No Yes No Yes No No
Palpitations No Yes No No Yes No Yes
Syncope Yes No No No Yes Yes No
ECG AF, LAFB, PM AF, 3AVB,
EW, PM		 AF, LBBB,
2AVB, PM		 PVCs, EW AF, 1–3AVB,
PM		 SND, 1AVB,
EW, PM		 SND, AF,
LBBB, PM
RV Dilation Severe Severe No Mild Moderate Moderate Moderate
RV Bulging Yes Yes No Yes Yes Yes No
RV hypokinesia Regional Regional No Regional Diffuse Diffuse No
RV Function RVFS 12% RVFS 15% Normal RVFS 33% RVFS 31% RVFS 19% RVFS 41%
LV Dilation (LVEDD) No No No Yes Yes No No
LV EF% 43 69 Normal 55 45 57 66
Late Potentials on
SAECG		 Yes NA No Yes NA Yes No
LBBB type VT
(NSVT)		 Yes Yes No No Yes Yes No
LBBB type VT
(Sustained VT)		 No No No No Yes No No
Ventricular
extrasystoles
>1000/24 hours		 Yes No No No No No Yes
Age and cause of
death or transplant		 HF (66) HF (62) Stable (72) OHT 64) OHT (57) OHT (58) Stable (36)
Fibrous or fibrofatty
replacement		 Yes Yes NA NA Yes Yes NA
Family DNRVD002 DNRVD008 DNRVD008 DNRVD006 TSRVD030 DNRVD011 TSRVD027
Individual IV-3 III-4 IV-5 II-2 II-6 III-4 II-7
Gender Male Male Male Male Female Female Male
Patient Mutation Ala19309Ser Ile16949Thr Ile16949Thr Tyr8031Cys Gly1137Arg Pro30847Leu Ala18579Thr
Met33291Thr
ARVD CRITERIA 2M 3m No 1M 2m 2M, 1m 2M 2M,2m 2M,1 m
Age at onset 19 -- 35 44 59 15 35
Age at diagnosis 44 66 36 46 59 33 40
Exertional Dyspnea Yes No Yes Yes No Yes Yes
Palpitations Yes No YES Yes Yes Yes Yes
Syncope Yes No No Yes No Yes Yes
ECG AF, AFL, SND,
1AVB, PM		 NSR SB AFL, 1AVB,
RBBB		 PAF,
iRBBB,SB,
PM		 NSR SR,RBBB,
3AVB,PM
RV Dilation Severe No Mild Severe Mild Moderate-Severe Severe
RV Bulging Yes No No No Yes No Yes
RV hypokinesia Diffuse No Regional Diffuse Diffuse Diffuse Diffuse
RV Function RVEF 21% Normal RVEF 43% RVFS6% RVFS33% RVFS17% Mild reduction
LV Dilation (LVEDD) No No No No No No No
LV EF% 35 Normal 40 66 57 63 52
Late Potentials on
SAECG		 NA No Yes No No NA Yes
LBBB type VT
(NSVT)		 Yes No No Yes No Yes No
LBBB type VT
(Sustained VT)		 Yes No No Yes No Yes No
Ventricular
extrasystoles
>1000/24 hours		 NA No No Yes No Yes No
Clinical status (Age) AICD OHT
(50)		 Stable (67) AICD Stable
(39)		 AICD OHT
(65)		 Stable (82) AICD OHT
(47)		 HF (55) AICD
Fibrous or fibrofatty
replacement		 Yes NA NA Yes Yes Yes NA
*

Family and Individual numbers from Figure 1; Abbreviations in table: AF, atrial fibrillation; LAFB, left anterior fascicular block; PM, pacemaker; 1AVB, 2AVB and 3AVB, 1st, 2nd and 3rd degree atrio-ventricular block; EW, epsilon waves; PVCs, premature ventricular contractions; 1AVB, 1st degree atrio-ventricular block; SSS, sick sinus syndrome; SB, sinus bradycardia; NSR, normal sinus rhythm; AFL, atrial flutter; SND, sinus node dysfunction; RBBB, right bundle branch block; iRBBB, incomplete RBBB; RV, right ventricular; RVFS, right ventricular fractional shortening; RVEF, right ventricular ejection fraction; LV, left ventricular; LVEF, left ventricular ejection fraction; SAECG, signal averaged ECG; LBBB, left bundle branch block; VT, ventricular tachycardia; HF, heart failure; AICD, automated implantable cardioverter defibrillator; OHT, orthotopic heart transplant; NA, not applicable/no data; M, major criteria; m, minor criteria; PAF, paroxysmal atrial fibrillation; HFd, death for heart failure.