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.