Figure 1
Figure 2
General and echocardiographic characteristics of HCM subjects
| Variable | Overall cohort (n = 45) | TTN+ (n = 13) | TTN− (n = 32) | p |
|---|---|---|---|---|
| Age at inclusion, years | 51±15.5 | 54.31±14 | 49.34±15.84 | 0.34 |
| Male sex, n (%) | 33 (73.3%) | 10 (76.9%) | 23 (71.9%) | 0.72 |
| Family history of HCM, n (%) | 7 (15.56%) | 4 (30.77%) | 3 (9.4%) | 0.47 |
| Family history of SCD, n (%) | 14 (31.1%) | 3 (23.1%) | 11 (34.4%) | 0.45 |
| ICD, n (%) | 7 (15.56%) | 3 (23.1%) | 4 (12.5 %) | 0.56 |
| Atrial fibrillation, n (%) | 22 (48.9%) | 7 (53.8%) | 15 (46.9%) | 0.67 |
| Maron classification, n (%) | 0.32 | |||
| 1 | 7 (15.56%) | 1 (7.7%) | 6 (18.8%) | |
| 2 | 5 (11.1%) | 2 (15.4%) | 3 (9.4%) | |
| 3 | 32 (71.1%) | 9 (69.2%)) | 23 (71.9%) | |
| 4 | 1 (2.2%) | 1 (7.7%) | 0 | |
| Presence of LVOTO, n (%) | 20 (44.44%) | 7 (53.9%) | 13 (40.6%) | 0.53 |
| LV maximal wall thickness, mm | 20.8±5.2 | 20.61±6.58 | 20.69±4.58 | 0.32 |
| LV mass, g | 279.91±90.72 | 297±90.62 | 272.04±91.6 | 0.51 |
| LVEDD, mm | 41.21±7.87 | 42.72±7.49 | 40.59±8.07 | 0.44 |
| LVESD, mm | 25.31±9.77 | 24.18±5.27 | 25.83±111.32 | 0.98 |
| LVEDV, ml | 111.42±39.6 | 125.55±45.8 | 106.12±36.68 | 0.41 |
| LVESV, ml | 55.55±30.13 | 55.69±32.56 | 56.74±29.63 | 0.98 |
| LVEF, % | 57.09±7.64 | 56.35±5.86 | 57.39±7.12 | 0.66 |
| LAD, mm | 40.92±6.86 | 41.09±8.69 | 40.85±6.13 | 0.88 |
| LAV, ml | 90.32±41.75 | 87.5±41.06 | 91.42±42.75 | 0.68 |
Novel TTN nonsynonymous missense variants detected in our cohort
| Gene | HGVSc | HGVSp | Exon | Region |
|---|---|---|---|---|
| TTN | c.44530G>T | p.Ala14844Ser | 242 | I-band |
| TTN | c.30392G>T | p.Cys10131Phe | 108 | I-band |
| TTN | c.25185G>T | p.Lys8395Asn | 88 | I-band |
| TTN | c.16783G>T | p.Val5595Leu | 58 | I-band |
| TTN | c.11927A>G | p.Lys3976Arg | 49 | I-band |
| TTN | c.2518G>T | p.Ala840Ser | 16 | near Z-disk |
| TTN | c.49G>T | p.Val17Leu | 2 | Z-disk |