Table 5.
Summary of Demographic, Baseline Clinical and Outcome Data for Major Published HCM Studies Comparing Genotype‐Positive and Genotype‐Negative Patients
| Center | SHaRe Registry | Mayo Clinic, USA | UCL, UK | Toronto General Hospital, Canada | Erasmus Medical Centre, Netherlands | Centenary Institute, Australia | Meta‐Analysis (13 Cohorts) |
|---|---|---|---|---|---|---|---|
| Study | Ho et al102 | Bos et al120 | Lopes et al121 | Li et al118 | van Velzen et al125 | Ingles et al126 | Lopes et al124 |
| Cohort size | 4591 | 1053 | 874 | 558 | 512 | 265 | 2459 |
| Genes tested | 8 | 9 | 8 | 8 | Large panel | 10 | ··· |
| Genotype positive, % | 46.3% | 34.1% | 43.8% | 35.5% | 45.7% | 52.1% | ··· |
| Demographics | |||||||
| Age at inclusion | 45.8±14.7 vs 53.1±14.9 | 46±15 vs 55±15 | 47±16 vs 56±17 | ||||
| P<0.001 | P<0.001 | P<0.001 | |||||
| Age at diagnosis | 37.3±17.1 vs 49.0±17.4 | 36.4±17 vs 48.5±18 | 39.5±15.2 vs 48.5±14.8 | 34±17 vs 44±18 | 38.4±10.3 vs 46.0±10.4 | ||
| P<0.001 | P<0.001 | P<0.001 | P<0.001 | P<0.001 | |||
| Sex (% male) | 60.6% vs 66.0% | 58.5% vs 60.4% | 56.1% vs 70.3% | 67.9% vs 61.5% | 53.6% vs 70.9% | 57.5% vs 61.5% | |
| P<0.01 | P=0.6 | P=0.001 | P=0.13 | P=0.005 | P=0.422 | ||
| FH HCM (%) | 57.9% vs 24.5% | 50.4% vs 22.9% | 39.8% vs 15.6% | 52.5% vs 20.0% | 73.9% vs 30.7% | 50.6% vs 23.1% | |
| P<0.001 | P<0.001 | P<0.001 | P<0.001 | P<0.001 | P<0.001 | ||
| FH SCD (%) | 27.0% vs 15.0% | 28.5% vs 15.2% | 16.7% vs 7.2% | 19.7% vs 5.4% | 41.3% vs 6.3% | 27.0% vs 14.9% | |
| P<0.001 | P<0.001 | P=0.002 | P<0.001 | P<0.001 | P<0.001 | ||
| Baseline characteristics | |||||||
| Max LVWT, mm | 19.7±6.2 vs 18.1±5.2 | 22.6±6 vs 20.1±5 | 18.8±4.4 vs 18.1±4.1 | 20.8±4.8 vs 19.6±4.9 | 20±5 vs 18±4 | 22±6 vs 21±5 | 21.0±4.1 vs 19.3±3.5 |
| P<0.001 | P<0.001 | P=0.004 | P=0.16 (adjusted) | P<0.001 | P=0.03 | P=0.03 | |
| Hypertension (%) | 19.2% vs 43.2% | 25.3% vs 46.9% | 22.8% vs 41.7% | ||||
| P<0.001 | P<0.001 | P=0.004 | |||||
| Clinical outcomes—hazard ratio (CI/log rank P value) | |||||||
| Mean follow‐up years | 5.4±6.9 | 6.6±6.3/6.2±5.6 | 12±9 | ||||
| CV mortality | 2.41 (1.73–3.35) (all death) | 3.99 (P=0.001) | 2.82 (P=0.002) | ||||
| HF‐related mortality | 6.33 (P=0.004) | ||||||
| SCD/aborted SCD | 3.44 (P=0.028) | 2.88 (P=0.015) | |||||
| Combined HF events | 1.87 (1.55–2.25) | 4.51 (P<0.001) | |||||
| Overall composite | 1.98 (1.72–2.28) | ||||||
Genotype‐positive status is defined by the presence of a putatively pathogenic variant—the vast majority of these occur in one of the 8 core sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1). The meta‐analysis by Lopes et al124 involved 13 previously published cohorts—this included subsets of the cohorts from the Mayo Clinic and Toronto General Hospital that had been published prior to the larger versions of those cohorts described here. The SHaRe registry may include cases from the Erasmus Medical Centre study and the meta‐analysis by Lopes et al124. CI indicates confidence interval; FH, family history; HCM, hypertrophic cardiomyopathy; HF, heart failure; LVWT, left‐ventricular wall thickness; SCD, sudden cardiac death; and UCL, University College London.