Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

Table 2 Clinical features of affected members with familial arrhythmogenic right ventricular cardiomyopathy.

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

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.

ISSN: 1471-2350