Comparison of MYBPC3 founder mutations in three populations
| Icelandic probands (n=60) | Dutch probands (n=134)* | Italian probands (n=19)† | Icelandic G+/LVH+ relatives (n=49) | Dutch G+/LVH+ relatives (n=54)* | Italian G+/LVH+ relatives (n=29)† | |
| Mutation | c.927-2A>G | c.2373dupG (46%), c.2827C>T (32%), c.2864_2865 delCT (22%) | p.F305Pfs*27 | c.927-2A>G | c.2373dupG (46%), c.2827C>T (32%), c.2864_2865 delCT (22%) | p.F305Pfs*27 |
| Diagnosed by family screening | 100% | 100% | 72% | |||
| Male (%) | 67% | 67% | 74% | 55% | 57% | 59% |
| Age at diagnosis | 41±14 | 44±14 | 36±16 | 50±19 | 47±16 | 44±19 |
| LVWT, mean (mm) | 25 | 20 | 23 | 18 | 16 | 19 |
| LVOT gradient>30 mm Hg (%) | 15% | 28% | 16% | 0% | 4% | 14% |
| Left atrial diameter, mean (mm) | 42 | 45 | 49 | 40 | 40 | 45 |
| Diastolic dysfunction (%) | 62% | 56% | N/A | 29% | 38% | N/A |
| NYHA class≥2 (%) | 48% | 48% | 58% | 0% | 8% | 28% |
| Atrial fibrillation (%) | 18% | 21% | 21% | 8% | 7% | 14% |
| SCD/aborted SCD (%) | 8% | 14% | 32% | 0% | 4% | 7% |
| ICD (%) | 18% | 23% | 58% | 0% | 13% | 14% |
*Clinical data from Dutch subjects with MYBPC3 founder mutations reported in.2
†Clinical data from Italian subjects with a MYBPC3 founder mutation reported in.1
G+, genotype-positive; HCM, hypertrophic cardiomyopathy; ICD, implantable cardioverter defibrillator; LVH, left ventricular hypertrophy; LVOT, left ventricular outflow tract; LVWT, left ventricular wall thickness; MYBPC3, myosin-binding protein C; NYHA, New York Heart Association; SCD, suden cardiac death.