From: Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge
Disse et al. [13] | Freed et al. [15] | Nesta et al. [14] | Monteleone et al. [18]; | |
---|---|---|---|---|
Underlying disease | MMVD | MVP | MVP | Myxomatous valvular dystrophy + hemophilia type A |
No° of included individuals (echocardiography + genetics) | 64 | 28 (11 m, 17f) | 43 | 92 |
Mean age (years) | 49 | 34 | 55 | 32 |
Affected individuals (positive in genetic testing) (%) | 25 (39%) | 12 (43%) | 9 (21%) | 21 (23%) |
MR present | 23 | 10 (3 m,7f) | 9 (5 m,4f) | 38 (14 m, 24f) |
- Trace to mild | 15 (11 m, 4f) | 8 (3 m, 5f) | 7 (4 m, 3f) | 20 (0 m, 20f) |
- Moderate | 3 (2 m, 1f) | 0 | 1 (f) | 16 (12 m, 4f) |
- Severe | 5 (3 m, 2f) | 2 (0 m, 2f) | 1 (m) | 2 (2 m,0f) |
Individuals with MVP | 25 (39%) (16 m,9f) | 12 (43%) | 9 (21%) | 21 (23%) |
Prolapse localisation | ||||
- AML | 10 | 0 | 0 | 16 (12 m, 4f) |
- PML | 5 | 7 (3 m, 4f) | 1(f) | 9 (8 m, 1f) |
- Bileaflet | 10 | 5 (1 m, 4f) | 8 (5 m, 3f) | n/a |
Mean LVEF in MVP patients | n/a | 65.5% | 63.7% | 69 + 8% m / 72 + 6% f |
Chromosome | 16 | 11 | 13 | X |
Locus | 16p12.1.-p11.2 | 11p15.4 | 13.q31.3-q32.1 | Xq28 |
Name of Gene | MMVP 1 | MMVP 2 | MMVP 3 | XMVD |
Mode of inheritance | Autosomal dominant | Autosomal dominant (incomplete penetrance) | Autosomal dominant | X-linked |