Table 1.
Characteristics of controls and manifest HCM patients.
| Number | Code | Reported Pathomechanism | Affected Gene | Gene/Protein Variant | Type of Mutation | Sex (F/M) | Age | ST (mm) | LVOT (mmHg) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | HCM 42 [17,18,19,20] | HI | MYBPC3 | c.2373dupG | truncation | M | 32 | 23 | 64 |
| 2 | HCM 43 [18,19,20,21,22] | HI | MYBPC3 | c.2373dupG | truncation | M | 60 | 23 | 77 |
| 3 | HCM 103 [20] | HI | MYBPC3 | c.2373dupG | truncation | M | 26 | 20 | 13 |
| 4 | HCM 104 [20] | HI | MYBPC3 | c.2373dupG | truncation | M | 33 | 24 | 31 |
| 5 | HCM 120 [20] | HI | MYBPC3 | c.2373dupG | truncation | M | 27 | 24 | 61 |
| 6 | HCM 123 [20] | HI | MYBPC3 | c.2373dupG | truncation | F | 59 | 12 | 64 |
| 7 | HCM 169 [20] | HI | MYBPC3 | c.2373dupG | truncation | M | 52 | - | - |
| 8 | HCM 34 [18,20,23] | HI | MYBPC3 | c.1790G > A; p.Arg597Gln |
missense | F | 47 | 20 | 38 |
| 9 | HCM 36 [17,18,20,21,22,23,24,25] | HI | MYBPC3 | c.927-2A > G | truncation | M | 22 | 30 | 71 |
| 10 | HCM 47 [19,20,23,25] | HI | MYBPC3 | c.3407_3409delACT | truncation | M | 55 | 25 | 96 |
| 11 | HCM 52 [18,19,20] | HI | MYBPC3 | c.2827C > T | truncation | F | 24 | 24 | 34 |
| 12 | HCM 62 [17,18,20,23] | HI | MYBPC3 | c.772G > A; p.Glu258Lys |
missense | M | 35 | 27 | 3 |
| 13 | HCM 63 [20,23] | HI | MYBPC3 | c.2827C > T | truncation | M | 33 | 21 | 25 |
| 14 | HCM 71 [20] | HI | MYBPC3 | c.2827C > T | truncation | M | 49 | 16 | 9 |
| 15 | HCM 82 [20] | HI | MYBPC3 | c.2783C > T; p.Ser928Leu |
missense | M | 71 | 20 | 64 |
| 16 | HCM 113 [17,20] | HI | MYBPC3 | c.2827C > T | truncation | M | 21 | 45 | 27 |
| 17 | HCM 116 [20] | HI | MYBPC3 | c.2827C > T | truncation | F | 53 | - | - |
| 18 | HCM 124 [20] | HI | MYBPC3 | c.2827C > T | truncation | M | 53 | 21 | 41 |
| 19 | HCM 133 [20] | HI | MYBPC3 | c.442G > A | truncation | M | 58 | - | - |
| 1 | HCM 27 [18,19,20,25] | PP | MYH7 | c.4130C > T; p.Thr1377Met |
missense | F | 58 | 20 | 100 |
| 2 | HCM 42B [18,19,20,23,25] | PP | MYH7 | c.1816G > A; p.Val606Met |
missense | F | 46 | 20 | 77 |
| 3 | HCM 80 [20] | PP | MYH7 | c.1291G > C and c.4327G > A; p.Val431Leu and p.Asp1443Asn |
missense | M | 34 | 17 | 85 |
| 4 | HCM 92 [20] | PP | MYH7 | c.2685A > C; p.Glen895His |
missense | M | 66 | - | - |
| 5 | HCM 106 [20] | PP | MYH7 | c.2783A > T; p.Asp928Val |
missense | M | 35 | 16 | 16 |
| 6 | HCM 114 [20] | PP | MYH7 | c.976G > C; p.Ala326Pro |
missense | M | 69 | 19 | 71 |
| 7 | HCM 119 [20] | PP | MYH7 | c.3367G > A; p.Glu1123Gln |
missense | M | 41 | 20 | 81 |
| 8 | HCM 130 [20] | PP | MYH7 | c.976G > C; p.Ala326Pro |
missense | M | 72 | 18 | 27 |
| 9 | HCM 131 | PP | MYH7 | c.1987C > T; p.Arg663Cys |
missense | F | 52 | 21 | 41 |
| 10 | HCM 166 [20] | PP | MYH7 | c.2080C > T; p.Arg694Cys |
missense | F | 66 | - | - |
| 11 | HCM 55 [18,23,25] | PP | TNNI3 | c.433C > T; p.Arg145Trp |
missense | M | 46 | 23 | 100 |
| 12 | HCM 59 [18,25] | PP | TNNI3 | c.433C > T; p.Arg145Trp |
missense | M | 66 | 16 | 67 |
| 13 | HCM 163 | PP | TNNI3 | c.433C > T; p.Arg145Trp |
missense | F | 64 | - | - |
| 14 | HCM 170 | PP | TNNI3 | c.433C > T; p.Arg145Trp |
missense | F | 69 | - | - |
| 15 | HCM 132 | PP | TNNT2 | c. 814C > T; p.Arg272Cys |
missense | F | 15 | - | - |
| 16 | HCM 173 | PP | TNNT2 | c.832C > T; p.Arg278Cys |
missense | M | 58 | - | - |
| 17 | HCM 175 | PP | TNNT2 | c.832C > T; p.Arg278Cys |
missense | M | 61 | - | - |
| 18 | HCM 135 | PP | MYL2 | c.64G > A; p.Glu22Lys |
missense | M | 68 | - | - |
| 19 | HCM 88 | PP | MYL2 | c.401A > C; p.Glu134Ala |
missense | F | 57 | - | - |
| 1 | HCM 30 [18,19,26] | SMN | - | F | 72 | 24 | 88 | ||
| 2 | HCM 40 | SMN | - | M | 22 | 15 | 100 | ||
| 3 | HCM 90 | SMN | - | M | 53 | 17 | 61 | ||
| 4 | HCM 96 | SMN | - | M | 74 | 17 | 81 | ||
| 5 | HCM 100 | SMN | - | F | 41 | - | 81 | ||
| 6 | HCM 105 | SMN | - | M | 65 | 16 | 49 | ||
| 7 | HCM 109 | SMN | - | F | 71 | 20 | 130 | ||
| 8 | HCM 117 [17] | SMN | - | F | 50 | 16 | 159 | ||
| 9 | HCM 125 [17] | SMN | - | M | 66 | 18 | 132 | ||
| 10 | HCM 126 | SMN | - | F | 64 | 15 | 104 | ||
| 11 | HCM 156 | SMN | - | F | 54 | - | - | ||
| 12 | HCM 168 | SMN | - | M | 46 | - | - | ||
| 13 | HCM 172 | SMN | - | M | 57 | - | - | ||
| 14 | HCM 174 | SMN | - | M | 66 | - | - | ||
| 1 | 3145 [27,28,29,30,31,32,33,34,35,36,37,38,39] | Ctrl | - | M | 39 | - | - | ||
| 2 | 4021 [33,34,35,36,37,38,39,40,41,42,43,44,45] | Ctrl | - | F | 53 | - | - | ||
| 3 | 4049 [33,34,35,36,37,38,39,40,41,42,46,47,48,49,50,51] | Ctrl | - | M | 65 | - | - | ||
| 4 | 5126 [46,47,48,49,52] | Ctrl | - | F | 55 | - | - | ||
| 5 | 6008 [42,53,54,55] | Ctrl | - | M | 40 | - | - | ||
| 6 | 7012 [27,28,29,30,31,32,56,57] | Ctrl | - | M | 19 | - | - | ||
| 7 | 7040 [33,34,35,36,55,58] | Ctrl | - | M | 37 | - | - | ||
| 8 | 7054 [55,59] | Ctrl | - | M | 33 | - | - | ||
| 9 | 8004 [55] | Ctrl | - | F | 50 | - | - |
HI: haploinsufficiency; PP: poison polypeptide; SMN: sarcomere mutation-negative; Ctrl: healthy donor hearts; F: female; M: male; Age at time of surgery; ST: septal thickness; LVOT: left outflow tract pressure gradient at rest. Patients without significant obstruction (LVOT gradient < 20 mmHg), but with severe heart failure symptoms, received an extended myectomy in order to increase LV filling.