Table 1.
Clinical characteristic and long‐term outcome by aetiology
| Whole cohort (n = 306) | Non‐syndromic (138) | RASopathy (101) | IEM (49) | P value | ||||
|---|---|---|---|---|---|---|---|---|
| Non‐syndromic (138) | Non‐syndromic with genetic testing a (67) | Comparison by aetiology (n = 288) | Comparison by aetiology using reduced cohort (n = 217) a | |||||
| Male gender | 187 (62.1) | 88 (63.8) | 43 (65.4) | 66 (65.4) | 28 (57.1) | 0.609 | 0.607 | |
| FHx HCM (n = 294) | 69 (23.5) | 48 (37.5) | 33 (49.3) | 8 (8.1) | 12 (24.5) | <0.001 | <0.001 | |
| FHx SCD | 23 (7.6) | 14 (10.1) | 7 (10.9) | 2 (2) | 6 (12.2) | 0.026 | 0.048 | |
| Reason for referral (n = 263) | Symptomatic | 77 (29.3) | 18 (17.1) | 12 (19.4) | 35 (40.7) | 21 (43.8) | <0.001 | <0.001 |
| Antenatal diagnoses | 9 (3.4) | 1 (1) | 1 (1.6) | 5 (5.8) | 2 (6.3) | |||
| Murmur | 75 (28.5) | 45 (42.9) | 26 (41.9) | 23 (26.7) | 4 (8.3) | |||
| Family screening | 24 (8.0) | 21 (20) | 14 (22.6) | 0 | 2 (4.2) | |||
| Screening for associated condition | 17 (6.5) | 0 | 0 | 3 (3.4) | 11 (22.9) | |||
| Other | 50 (19.0) | 20 (19.1) | 9 (14.5) | 20 (23.3) | 7 (14.6) | |||
| Co‐morbidities | Any | 161 (53.5) | 50 (36.2) | 22 (32.8) | 76 (75.3) | 35 (71.4) | <0.001 | <0.001 |
| Cardiac (n = 276) | 77 (27.9) | 30 (21.7) | 13 (19.4) | 42 (41.6) | 4 (8.2) | <0.001 | <0.001 | |
| Initial clinical assessment | ||||||||
| Ross class > 1 (n = 271) | 99 (36.5) | 24 (21.4) | 11 (17.2) | 47 (49.5) | 24 (49.0) | <0.001 | <0.001 | |
| Any cardiac symptoms | 129 (42.9%) | 47 (34.1) | 62 (61.4) | 31 (63.3) | <0.001 | <0.001 | ||
| Pattern of hypertrophy (n = 267) | ASH | 118 (44.2) | 80 (65.6) | 53 (82.8) | 26 (28.6) | 6 (12.2) | <0.001 | <0.001 |
| Concentric | 64 (23.9) | 16 (13.1) | 4 (6.3) | 22 (24.2) | 24 (45.0) | |||
| Biventricular | 85 (31.8) | 22 (18.0) | 7 (10.9) | 40 (44.0) | 18 (36.7) | |||
| MWT (mm) | Median, IQR | 9 (7,12) | 9.3 (7.5,13.0) | 10.5 (8, 13) | 9 (7,11.8) | 9 (7,11) | 0.403 | 0.024 |
| MWT z score | Mean (±) | 10.8 (5.8) | 10.3 (4.0) | 11.6 (±5.3) | 9.3 (3.1) | 9.9 (3.9) | 0.823 | 0.946 |
| Impaired systolic function (n = 160) | 12 (7.5) | 3 (2.2) | 1 (1) | 1 (1) | 7 (14.3) | 0.001 | 0.001 | |
| LVOT obstruction (n = 265) | 160 (60.6) | 42 (43.8) | 22 (36.1) | 49 (62.8) | 6 (17.1) | <0.001 | <0.001 | |
| RVOT obstruction (>16 mmHg) (n = 155) | 66 (42.6) | 12 (20.3) | 6 (26.1) | 48 (72.7) | 5 (20) | <0.001 | <0.001 | |
| Outcome | ||||||||
| Died | 48 (15.9) | 11 (8.0) | 3 (4.5) | 16 (15.8) | 20 (40.8) | <0.001 | <0.001 | |
| SCD | 8 (2.7) | 3 | 2 | 2 | 3 | |||
| CCF | 14 (4.7) | 6 | 1 | 4 | 4 | |||
| Other CV | 4 (1.3) | 0 | 0 | 3 | 0 | |||
| Non‐CV | 20 (6.6) | 2 | 0 | 6 | 12 | |||
| Unknown | 2 (0.7) | 0 | 0 | 1 | 1 | |||
| Transplant | 6 | 3 | 1 | 1 | 2 | |||
| Mortality or transplant incidence rate/100 patient years | 3.1 (95% CI 2.41–4.11) | 1.33 (95% CI 0.73–2.39) | 0.87 (95% CI 0.33–2.32) | 2.39 (95% CI 1.47–3.91) | 13.22 (95% CI 8.62–20.29) | <0.001 | <0.001 | |
| Survival | 1 year | 86.2 (95% CI 81.7–89.7%) | 94.7 (95C% CI 89.2–97.4) | 96.0 (95% CI 88.3–99.2) | 88.0 (95% CI 79.8–93.0) | 65.1 (95%CI 50.0–76.7) | ||
| 5 years | 83.1 (95% CI 78.2% ‐ 87.0) | 93.0 (95% CI 86.9–96.3) | 96.0 (95% CI 88.3–99.2) | 85.7 (95%CI 77.0–91.3) | 57.9 (95% CI 42.5–70.6) | |||
| 10 years | 80.0 (95% CI 73.8–84.9) | 90.0 (95% CI 79.8–95.2) | 96.0 (95% CI 88.3–99.2) | 81.1 (95%CI 69.7–88.6) | 57.9 (95% CI 42.5–70.6) | |||
ASH, asymmetric septal hypertrophy; CCF, congestive cardiac failure; CI, confidence interval; CV, cardiovascular; FHx, family history; HCM, hypertrophic cardiomyopathy; IEM, inborn error of metabolism; IQR, interquartile range; LVOT, left ventricular outflow tract; MACE, major arrhythmic cardiac event; MWT, maximal wall thickness; NYHA, New York Heart Association; RVOT, right ventricular outflow tract; SCD, sudden cardiac death.
a
Patients in whom genetic testing has been performed.