A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

Table 1

Pedigree number (Figure 3)	Age/gender	MYL3 genotype	ECG	Echo	Symptoms	Phenotype
III-1 Proband	38/M	p.V79I	LVH and TWI	Asymmetric septal LVH. MWT 21 mm. No RVH. LVOTO (36 mm Hg and LA dilation (54 mm))	None	HCM
II-1	64/M	WT	na	na	None	Unknown
II-2	58/F	V79I	TWI in AVL	Angulated septum	None	Borderline
II-4	55/M	V79I	LAD QRSd	NORMAL	None	Borderline
III-4	36/F	V79I	LAD	Diastolic dysfunction	None	Borderline
III-5	31/F	WT	na	na	None	Unknown
III-6	23/F	V79I	Normal	Normal	None	Normal
III-7	29/M	V79I	IVCD	Normal	None	Normal
III-8	27/F	WT	Normal	Normal	None	Normal
IV-1	11/M	V79I	na	na	None	Unknown
IV-2	17/M	V79I	Normal	Normal	None	Normal
IV-3	15/M	WT	Normal	Normal	None	Normal
IV-4	13/M	WT	na	na	None	Unknown
IV-5	8/F	V79I	Normal	Normal	None	Normal
IV-6	3/M	V79I	Normal	Normal	None	Normal

LVH: left ventricular hypertrophy; MWT: maximum wall thickness; LAD: left axis deviation; IVCD: intraventricular conduction defect; TWI: T-wave inversion; AVL: Augmented unipolar left leadQRSd: QRS deviation; na: not available.