Clinical and genetic characteristics of compound and double heterozygote families
| Family | Case | Age (y) | LVWT (mm) | SCD events | AICD | Clinically affected | Genotype | Gene/exon mutation 1 | Gene/exon mutation 2 | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Myectomy ×2. | ||||||||||||||||||
| AICD, automatic implantable cardioverter defibrillator; CH, compound heterozygote; DH, double heterozygote; HZ, heterozygote; LVWT, left ventricular wall thickness; N/A, not available; NT, not tested; SCD, sudden cardiac death; y, years. | ||||||||||||||||||
| C | III:4 | 44 | 20 | 5 | No | Yes | NT | β-MHC/19 | MyBP-C/8 | |||||||||
| IV:2 | 16 | 20 | No | Yes | NT | R719Q | R273H | |||||||||||
| IV:4 | 35 | 17 | Yes | Yes | DH | |||||||||||||
| V:1 | 15 | 29 | Yes | Yes | DH | |||||||||||||
| V:2 | 13 | 9 | No | No | HZ | No mutation | R273H | |||||||||||
| D | I:1 | 72 | N/A | 1 | No | Yes | NT | MyBP-C/24 | MyBP-C/27 | |||||||||
| II:1 | 29 | 30 | Yes | Yes | CH | D745G | P873H | |||||||||||
| II:2 | 32 | N/A | Yes | Yes | NT | |||||||||||||
| G | II:1 | 34 | 34 | 0 | Yes | Yes | CH | MyBP-C/18 | MyBP-C/26 | |||||||||
| III:1 | 13 | N/A* | Yes | Yes | NT | E542Q | A851V | |||||||||||
| O | I:1 | 82 | 14 | 0 | No | No | NT | MyBP-C/13 | MyBP-C/34 | |||||||||
| II:3 | 58 | 11 | No | No | No mutation | R326Q | Q1233Ter | |||||||||||
| II:5 | 53 | 28 | No | Yes | CH | |||||||||||||
| II:7 | 52 | 10 | No | No | No mutation | |||||||||||||
| III:7 | 17 | 8 | No | No | No mutation | |||||||||||||