Table 1 The main clinical features of the index patients and their relatives
Family | Age (M/F) | Genotype, * = TTN+ | Conduction defect | Arrhythmias | PM, ICD | LVEDD (mm) | EF (%) | proBNP (ng/l), ** = BNP | Age at dg | Phenotype | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | |||||||||||
II.2 | 68 M | −/− | AVB1 | no | no | 53 | 76 | 22 | – | ||
II.4 | 65 M | −/−* | pLBBB | VT, VESm/R, AF | ICD | 68 | 33 | 2059 | 58 | DCM | |
II.5 | 51 M | +/− * | LAHB | no | no | 80 | 10–15 | 2135** | 51 | DCM | Heart transplant |
II.9 | 63 M | −/− | no | no | no | 47 | 65 | 13 | – | ||
III.1 | 41 M | −/− | no | no | no | 48 | 57 | 16 | – | ||
III.3 | 31 M | −/− | no | no | no | 58 | 67 | 109 | – | ||
III.7 | 44 M | −/−* | LAHB | no | no | 55 | 14 | NA | 44 | DCM | |
Family 2 | |||||||||||
II.2 | 67F | +/− | LAHB, RBBB | AF | no | 68 | 30 | 650 | 46 | DCM | SCD |
II.4 | 66F | +/− | AVB1, LAHB | no | no | 55 | 45 | 1742 | 60 | DCM | |
III.2 | 49F | +/− | no | no | no | 49 | 50–56 | 43 | – | ||
III.3 | 47 M | −/− | no | no | no | 59 | 57 | 30 | – | ||
III.4 | 46 M | −/− | no | no | no | 54 | 64 | 55 | – | ||
III.5 | 42 M | −/− | no | bradycardia | no | 56 | 55 | 56 | – | ||
III.6 | 40 M | +/− | no | no | no | 52 | 54–55 | 79 | – | ||
IV.1 | 26 M | −/− | pRBBB | no | no | 49 | 54–59 | 20 | – | ||
Family 3 | |||||||||||
II.1 | 81 M | +/− | AVB1, LBBB | VTm, AF | no | 83 | 18–24 | 23,478 | 72 | DCM | |
III.1 | 56 M | +/− | no | no | no | 60 | 52 | 265 | – | Slightly dilated ventricle (Henry’s formula: 118.8%) | |
III.2 | 53 M | +/− | no | no | no | 54 | 56–58 | 13 | – | ||
III.3 | 49F | −/− | no | no | no | 48 | 63 | 24 | – | ||
Family 5 | |||||||||||
II.3 | 54F | +/− | AVB1, LAHB | VTm, VESp | no | 60 | 30–35 | 1400 | 43 | DCM | |
III.1 | 21F | −/− | no | bradycardia | no | 50 | 60 | 71 | – | ||
Family 6 | |||||||||||
II.1 | 59 M | +/− | AVB3 | VT, AF | PM | 83 | 19 | 9836 | 48 | DCM | Heart transplant |
Family 7 | |||||||||||
II.2 | 70F | +/− | AVB2, LAHB | VESp, AF | CRT-D | 60 | 15–20 | 2428 | 50 | DCM | |
II.4 | 62F | −/− | no | no | no | 47 | 72 | 48 | – | ||
II.5 | 57 M | +/− | no | VES | no | 67 | 32 | 455 | NA | DCM | |
III.1 | 50F | −/− | no | no | no | 46 | 65 | 123 | – | ||
III.3 | 47 M | −/− | NA | NA | no | NA | NA | NA | – | ||
Family 8 | |||||||||||
48F | +/− | AVB1 | VT | PM | 70 | 22 | 3117 | 42 | DCM | ||
Family 9 | |||||||||||
27F | +/− | no | VES | no | 60 | 40 | 400 | 22 | DCM | ||
Family 10 | |||||||||||
II.1 | M | +/− | no | VES | no | 54 | 52 | 21 | – | ||
III.1 | 14 M | +/− | no | VF | no | 55 | 17 | NA | 14 | DCM | SCD |
Family 11 | |||||||||||
43 M | +/− | AVB2 | no | no | 52 | 52 | 20** | – | |||