Table 3.
Patient no. | Gender | Gene mutation | Age at Dx, years | Age at symptom onset, years | CAD | LA entry, mm | LA FU, mm | AF entry | AF FU | LVOT peak gradient entry, mmHg | LVOT peak gradient FU, mm Hg | EF entry, % | EF FU, % | Max- LV, mm | LVED entry, mm | LVED FU, mm | PW LV filling pattern entry | PW LV filling pattern FU | MR entry | MR FU | NYHA class entry | NYHA class FU | Surgery | SE | Outcome (age) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
End-stage | |||||||||||||||||||||||||
1 | M | 0 | 5 | 26 | 0 | 30 | 49 | 0 | parox | 0 | 0 | 62 | 38 | 25 | 45 | 60 | E/A > 1 | E/A > 1 | 0 | 1 | I | III | 0 | 0 | Alive |
2 | F | 0 | 11 | 40 | — | 51 | 50 | 0 | 0 | 15 | 0 | 58 | 40 | 32 | 43 | 62 | E/A > 1 | E/A > 1 | 0 | 1 | I | III | 0 | 0 | List for TP |
3 | F | 0 | 17 | 47 | 0 | 46 | 54 | 0 | perm | 0 | 0 | 61 | 46 | 20 | 48 | 57 | E/A > 1 | RES | 0 | 1 | II | III | 0 | 0 | Alive, PM |
4 | M | 0 | 38 | 38 | — | 65 | 68 | 0 | perm | 0 | 0 | 44 | 45 | 21 | 56 | 56 | RES | RES | 1 | 0 | II | IV | 0 | 0 | TP (50) |
5 | M | TNNT2 | 39 | 56 | + | 60 | 70 | perm | perm | 0 | 0 | 26 | 30 | 13 | 58 | 62 | RES | RES | 1 | 1 | II | III | 0 | 0 | TP (59) |
EX 9 | |||||||||||||||||||||||||
Arg94Leu | |||||||||||||||||||||||||
6 | M | — | 39 | 59 | — | 48 | 56 | 0 | perm | 0 | 0 | 60 | 46 | 22 | 48 | 57 | E/A > 1 | RES | 0 | 1 | II | III | 0 | 0 | Alive, ablation |
7 | M | — | 48 | 74 | — | 53 | 56 | 0 | parox | 0 | 0 | 74 | 46 | 25 | 51 | 47 | E/A > 1 | E/A > 1 | 1 | — | I | III | 0 | 0 | Alive, PM |
8 | F | — | 54 | 54 | 0 | 44 | 45 | 0 | parox | 0 | 0 | 47 | 46 | 25 | 45 | 31 | RES | RES | 2 | 2 | III | III | 0 | + | HF death (55) |
9 | F | — | 55 | 55 | 0 | 58 | 59 | pers | perm | 0 | 0 | 25 | 47 | 19 | 60 | 61 | — | — | 1 | 2 | III | III | 0 | 0 | Alive, PM, ICDa |
10 | F | 0 | 59 | 66 | — | 50 | 48 | perm | perm | 0 | 0 | 32 | 36 | 18 | 40 | 38 | — | RES | 1 | 1 | II | IV | 0 | 0 | HF death (68) |
11 | F | MYBPC3 | 59 | 63 | 0 | 43 | 51 | perm | perm | 0 | 0 | 34 | 31 | 16 | 55 | 58 | RES | RES | 2 | 2 | II | III | 0 | 0 | TP (63) |
EX 13 | |||||||||||||||||||||||||
Gln366X | |||||||||||||||||||||||||
12 | M | — | 64 | 65 | 0 | 42 | 60 | 0 | 0 | 0 | 0 | 40 | 32 | 18 | 35 | 68 | E/A > 1 | RES | 2 | 3 | I | III | 0 | 0 | HF death (77) |
13 | F | — | 65 | 65 | — | 50 | 52 | 0 | 0 | 64 | 0 | 70 | 31 | 25 | 52 | 64 | E/A < 1 | — | 2 | 0 | III | III | 0 | 0 | Alive |
14 | M | — | 65 | 80 | + | 52 | 58 | 0 | perm | 0 | 0 | 71 | 43 | 23 | 53 | 60 | E/A > 1 | — | 1 | 0 | I | III | CABG | 0 | Alive |
15 | F | — | 66 | 66 | — | 38 | 55 | 0 | 0 | 0 | 0 | 54 | 41 | 17 | 60 | 60 | E/A > 1 | E/A > 1 | 0 | 0 | IV | III | 0 | 0 | Alive |
LV outflow obstruction | |||||||||||||||||||||||||
16 | M | MYH7 | 16 | 16 | — | 45 | 51 | 0 | 0 | 80 | 50 | 83 | 58 | 35 | 50 | 40 | E/A > 1 | E/A > 1 | 2 | 1 | III | III | 0 | 0 | Alive |
EX 22 | |||||||||||||||||||||||||
Met877Ile | |||||||||||||||||||||||||
17 | M | — | 41 | 41 | — | 41 | 45 | 0 | parox | 40 | 190b | 75 | 66 | 21 | 41 | 40 | E/A > 1 | E/A < 1 | 1 | 1 | III | III | 0 | 0 | Alive |
18 | M | — | 45 | 64 | 0 | 48 | 64 | 0 | perm | 55 | 40 | 75 | 50 | 25 | 52 | 55 | E/A > 1 | — | 1 | 0 | II | III | 0 | 0 | Alive |
19 | F | — | 47 | 47 | — | 60 | 65 | 0 | 0 | 50 | 80 | 68 | 57 | 25 | 50 | 42 | E/A > 1 | E/A > 1 | 1 | 2 | IV | III | 0 | 0 | Alive |
20 | M | — | 51 | 61 | — | 35 | 38 | 0 | 0 | 60 | 60 | 50 | 50 | 18 | 53 | 47 | E/A > 1 | — | 0 | 1 | III | III | 0 | 0 | Alive, PM |
21 | F | — | 51 | 54 | — | 46 | 55 | perm | perm | 50 | 60 | 62 | 66 | 28 | 38 | 40 | — | — | 2 | 2 | III | III | 0 | 0 | Alive |
22 | M | 0 | 52 | 58 | 0 | 38 | 58 | 0 | perm | 45 | 75 (0) | 68 | 63 | 27 | 42 | 42 | E/A > 1 | — | 2 | 2 | III | III (I) | Myectomy + MVR | 0 | Alive |
23 | F | — | 54 | 62 | — | 36 | 56 | 0 | parox | 40 | 40 (0) | 77 | 67 | 29 | 40 | 41 | E/A < 1 | — | 1 | 2 | IV | III (I) | Myectomy + MVR | 0 | Alive |
24 | F | — | 60 | 60 | — | 50 | 48 | 0 | 0 | 110 | 200 | 71 | 59 | 23 | 41 | 46 | E/A > 1 | — | 2 | 2 | III | IV | 0 | 0 | Alive, PM |
25 | F | — | 60 | 60 | — | 40 | 54 | 0 | perm | 65 | 95 | 62 | 53 | 25 | 46 | 38 | E/A > 1 | — | 1 | 1 | II | IV | 0 | 0 | HF death (67) |
26 | F | — | 72 | 72 | — | 45 | — | 0 | 0 | 45 | — | 68 | — | 19 | 51 | — | E/A > 1 | — | 2 | — | IV | — | 0 | 0 | Lost |
Non-obstructive with preserved systolic function + atrial fibrillation | |||||||||||||||||||||||||
27 | F | — | 14 | 34 | — | 57 | 60 | 0 | parox | 0 | 0 | 50 | 50 | 18 | 46 | 45 | E/A > 1c | RES | 3 | 3 | II | IV | 0 | + | HF death (39) |
28 | M | — | 15 | 18 | — | 70 | 70 | 0 | perm | 0 | 0 | 72 | 65 | 14 | 40 | 40 | RES | — | 1 | 0 | III | IV | 0 | 0 | TP (20) |
29 | M | — | 20 | 20 | — | 56 | 58 | 0 | parox | 0 | 0 | 70 | 64 | 18 | 57 | 38 | RES | — | 0 | 3 (0) | III | III (II) | MVR | 0 | Alive |
30 | M | — | 22 | 25 | — | 38 | 40 | parox | parox | 0 | 0 | 46 | 56 | 25 | 60 | 60 | E/A > 1 | — | 1 | 1 | II | III | 0 | + | Alive, ICDa |
31 | F | — | 30 | 31 | — | 70 | 70 | pers | perm | 0 | 0 | 63 | 60 | 20 | 25 | 36 | RES | RES | 0 | 0 | III | IV | 0 | 0 | HF death (34) |
32 | M | — | 32 | 47 | 0 | 40 | 43 | 0 | pers | 0 | 0 | 63 | 70 | 23 | 45 | 46 | E/A < 1 | E/A < 1 | 1 | 1 | I | III | 0 | 0 | Alive |
33 | F | 0 | 32 | 32 | + | 47 | 48 | 0 | perm | 0 | 0 | 68 | 67 | 25 | 40 | 38 | E/A < 1 | — | 0 | 1 | II | IV | 0 | + | PM, HF death (53) |
34 | F | — | 35 | 43 | 0 | 38 | 61 | 0 | perm | 12 | 0 | 64 | 50 | 26 | 35 | 45 | E/A < 1 | — | 1 | 2 | II | III | 0 | 0 | Alive, PM, list for TP |
35 | M | 0 | 36 | 36 | — | 44 | 127 | 0 | perm | 20 | — | 75 | 55 | 22 | 50 | 48 | E/A > 1 | — | 2 | 3 (0) | II | III (II) | MVR | 0 | Alive, |
36 | M | — | 42 | 44 | — | 70 | — | perm | perm | 0 | — | 58 | — | 15 | 40 | — | — | — | 2 | — | III | — | 0 | 0 | Lost |
37 | M | 0 | 48 | 55 | — | 47 | 50 | perm | perm | 0 | 0 | 57 | 65 | 32 | 40 | 42 | — | — | 1 | 1 | III | III | 0 | 0 | Alive, PM |
38 | F | MYH7, EX 36 Thr1760Met | 48 | 58 | — | 60 | 56 | 0 | pers | 0 | 0 | 76 | 51 | 18 | 38 | 44 | E/A > 1 | E/A < 1 | 1 | 1 | II | III | 0 | 0 | Alive |
39 | M | MYH7, EX 27 Ile1207Met | 49 | 58 | — | 62 | 90 | perm | perm | 20 | 0 | 57 | 57 | 18 | 52 | 55 | — | RES | 1 | 2 | III | IV | 0 | 0 | TP (60) |
40 | F | — | 57 | 57 | — | 40 | 44 | 0 | perm | 0 | 0 | 67 | 65 | 16 | 50 | 48 | E/A > 1 | RES | 0 | 0 | I | III | 0 | 0 | Alive, PM |
41 | F | — | 63 | 65 | 0 | 55 | — | 0 | perm | 0 | 0 | 62 | — | 15 | 47 | — | RES | — | 2 | — | II | III | 0 | 0 | Alive, ablation + PM |
Non-obstructive with preserved systolic function + normal sinus rhythm | |||||||||||||||||||||||||
42 | F | MYBPC3 | 1 | 1 | 0 | 30 | 33 | 0 | 0 | 15 | 10 | 84 | 72 | 30 | 32 | 36 | E/A < 1 | E/A > 1c | 1 | 0 | IV | IV | 0 | 0 | TP (12) |
EX 12 | |||||||||||||||||||||||||
Ala364Thr | |||||||||||||||||||||||||
43 | M | 0 | 4 | 4 | — | 60 | 61 | 0 | 0 | 0 | 0 | 52 | 53 | 15 | 30 | 29 | RES | RES | 0 | 2 | III | III | 0 | 0 | TP (9) |
44 | F | — | 5 | 5 | 0 | 25 | 25 | 0 | 0 | 0 | 0 | 68 | 72 | 20 | 32 | 32 | E/A > 1c | E/A > 1c | 0 | 0 | III | III | 0 | 0 | Alive |
45 | F | TNNI3 | 28 | 28 | — | 53 | — | 0 | 0 | 0 | 0 | 59 | 58 | 17 | 38 | — | RES | RES | 0 | 0 | III | — | 0 | 0 | TP (28) |
EX 8 | |||||||||||||||||||||||||
Lys207Thr | |||||||||||||||||||||||||
46 | F | — | 37 | 41 | — | 60 | — | 0 | — | 0 | 0 | 55 | — | 18 | 55 | — | RES | — | 0 | 0 | IV | — | 0 | 0 | HF death (41) |
47 | M | — | 45 | 56 | — | 39 | 46 | 0 | 0 | 0 | 0 | 60 | 68 | 24 | 49 | 48 | E/A < 1 | RES | 1 | 1 | II | IV | 0 | 0 | ICDd, HF death (56) |
48 | F | 0 | 45 | 45 | — | 70 | 55 | 0 | 0 | 0 | 0 | 56 | 51 | 16 | 49 | 48 | RES | RES | 1 | 1 | II | IV | 0 | 0 | PM, HF death (66) |
49 | F | — | 65 | 70 | — | 46 | 75 | 0 | 0 | 0 | 0 | 64 | 57 | 15 | 40 | 53 | RES | RES | 0 | 0 | I | IV | 0 | 0 | Alive |
50 | M | — | 76 | 76 | — | 35 | — | 0 | 0 | 0 | 0 | 53 | — | 25 | 37 | — | E/A > 1c | — | 1 | — | II | IV | 0 | 0 | Non-HCM-related death (76) |
AF, atrial fibrillation classified as paroxysmal (parox), persistent (pers) or permanent (perm); CABG, coronary artery bypass graft; CAD, coronary artery disease; Dx, diagnosis; EF, ejection fraction; FU, follow-up; HCM, hypertrophic cardiomyopathy; HF, heart failure; ICD, implantable cardioverter-defibrillator; LA, left atrium; LVED, left ventricle end-diastolic diameter; LV, left ventricle; LVOT, left ventricular outflow tract; MR, mitral regurgitation; MVR, mitral valve replacement; NYHA, New York Heart Association; PM, pacemaker; RES, restrictive (defined in setting of early LV diastolic filling deceleration time <150 ms and E/A ratio >2 at sinus rhythm); SE, systemic embolism; TP, transplant; —, data non available; +, present; 0, absent; () data after surgery.
aImplanted for secondary prevention.
bZero gradient at rest, and 190 mmHg with exercise.
cPseudo-normal LV filling pattern [defined in the setting of E/A ratio = 0.9–1.5, early LV diastolic filling deceleration time = 160–240 ms, Valsalva positive (= E/A ratio decrease by ≥0.5 and increase in A velocity during Valsalva manoeuvre)].8
dImplanted for primary prevention.