Table 3.

Clinical Demographics of ARVC Subjects with Desmosomal Gene Mutations. Note that most, but not all subjects with mutations meet full Task Force Diagnostic Criteria. All subjects have right ventricular involvement and arrhythmias and several subjects also have left ventricular involvement.

Pt	Gender	Age onset	FHX	Affected parents	Nationality	Palpitations	Syncope / SCD	CHF/ NYHA class	Arrhythmia	ECG abnl	SAECG abnl	ICD	Transplant	Exer VT	RV inyvol	LV invol	MRI abn	DX Criteria M/m	Histology	gene	Nt Change	aa Change
1	F	25	N	No	US	Yes	No/No	No/I	VTapex RVOT	Yes	Yes	No	No	No	Yes	No	Yes	Yes Yes	Yes	PKP2 DSP	1212insT 269A>G	L404fsX409 Q90R
2	F	22	Y	No	US	Yes	Yes/No	No/I	VTapex RVOT	Yes	Yes	Yes	No	No	Yes	No	Yes	Yes Yes	Yes	PKP2 DSP	1592T>G 620G>A	I531S W207X
3	F	23	Y	No	US	Yes	Yes/No	No/I	VT RVOT	Yes	Yes	Yes	No	Yes	Yes	Yes	Yes	Yes Yes	Yes	PKP2 DSG2	1592T>G 146G>A	I531S R49H
4	M	29	N	No	US	Yes	No/No	No/I	VT apex	Yes	Yes	No	No	Yes	Yes	No	Yes	Yes Yes	No	PKP2 DSG2	145_148delCAGA 1003A>G	S50fsX110 T335A
5* 6	M	16	Y	No	US	Yes	Yes/No	No/I	VT RVOT	Yes	Yes	Yes	No	No	Yes	No	Yes	Yes Yes	Yes	PKP2 PKP2	1162C>T 2509delA	R388W V837fsX930
	M	12	Y		US	Yes	Yes/No	No/I	VT RVOT	Yes	Yes	Yes	No	No	Yes	No	Yes	Yes Yes	Yes
7	M	32	Y	No	US	Yes	Yes/No	No/I	VT RVOT apex	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes Yes	Yes	PKP2 PKP2	145_148delCAGA 1592T>G	S50fsX110 I531S
8	M	52	N	No	US	Yes	No/No	No/I	VT RVOT	Yes	Yes	Yes	No	No	Yes	Yes	Yes	Yes Yes	No	PKP2 PKP2	1592T>G 2359C>T	I531S L787F
9** 10	M	26	Y	No	US	Yes	No/No	No/I	VT RVOT	Yes	Yes	Yes	No	Yes	Yes	No	Yes	Yes Yes	Yes	PKP2 DSC2	1613G>A 1914G>C	W538X Q63SH
	F	25	Y		US	Yes	No/No	No/I	VT RVOT	Yes	No	Yes	No	No	Yes	No	Yes	No Yes	Yes
11	F	30	N	No	US	Yes	No/No	No/I	NSVT	Yes	No	Yes	No	Yes	Yes	No	Yes	No Yes	No	PKP2 PKP2 DSP	1613G>A 1914G>C 88G>A	W538X Q638H V30M
12	M	41	N	No	US	Yes	Yes/No	No/I	VT	Yes	Yes	Yes	No	Yes	Yes	No	Yes	Yes No	No	PKP2 PKP2 DSP	1114G>C 2145-1G>C 4609C>T	A372P R1537C
13	M	30	Y	No	US	Yes	Yes/No	No/I	VT	No	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes No	Yes	PKP2 PKP4	2146-1G>C 2786A>G	D929G
14	M	50	Y	No	US	Yes	Yes/Yes	No/I	VT-RV origin	Yes	Yes	Yes	No	Yes	Yes	No	Yes	Yes Yes	Yes	PKP2 PKP2 DSG2	419C>T 2146-1G>C 166 G>A	S140F V56M
15	M	44	Y	No	Italian	Yes	Yes/Yes	No/I	VF	Yes	Yes	Yes	No	No	Yes	No	Not perf	1/3	No	PKP2 PKP2 DSG2	627C>G 2447_2448delCC 437G>A	S209R T816fsX825 R146H
16	M	40	Y	No	Italian	Yes	Yes/Yes	No/I	VF	Yes	No	Yes	No	Yes	Yes	No	Yes	1/3	No	PKP2 PKP2 DSP	630C>T 2333T>C 3764G>A	Q211X I778T R1255K
17	F	31	Y	No	Italian	Yes	No/No	No/I	NSVT	Yes	Yes	No	No	No	Yes	Yes	Not perf	1/4	Yes	PKP2 PKP2 DSP	2119C>T 184C>A 4961T>C	Q707X Q62K L1654P
18	M	34	Y	One	Italian	Yes	No/No	No/I	NSVT	Yes	Yes	No	No	No	Yes	No	Not perf	1/4	No	PKP2 DSG2	145_148delCAGA 1115G>A	S50fsX110 V391I

Patient 5 (proband) and 6 are from same family;

^**Patient 9 (proband) and 10 are from same family.

Pt= Patient number; FHx= Family History of ARVC; SCD= Sudden Cardiac Death; CHF=Congestive Heart Failure; NYHA= New York Heart Association; ECG abnl= Electrocardiographic abnormalities; SAECG= Signal Averaged ECG; ICD= Implantable Cardioverter Defibrillator; Dx Criteria= Diagnostic Criteria; M/m= Major/minor criteria; Nt= Nucleotide; aa= Amino Acid