Table 2. Clinical characteristics of twelve patients diagnosed with DCM who were referred for genetic testing in which a pathogenic HCM variant was detected.
| Gene | Nucleotide substitutiona | Amino acid substitutiona | Late gadolinium enhancement | Wall thickness (PW/IVS) | Left ventricle volume | Left atrium volume | Ejection fraction | Atrial fibrillation | Endpoint |
|---|---|---|---|---|---|---|---|---|---|
| MYH7 | c.1207C>T | p.Arg403Trp | + | 11/12mm | 190ml | 140ml | 31% | Yes | - |
| MYH7 | c.2167C>T | p.Arg723Cys | ++ | 14/14mm | 230ml | 138ml | 26% | Yes | Death |
| MYH7 | c.2594A>G | p.Lys865Arg | + | 6/7mm | 292ml | 60ml | 14% | Yes | - |
| MYH7 | c.5774G>A | p.Arg1925His | + | 10/10mm | 230ml | 129ml | 45% | Yes | - |
| TPM1 | c.184G>C | p.Glu62Gln | + | 14/9mm | 169ml | 165ml | 45% | Yes | - |
| TPM1 | c.184G>C | p.Glu62Gln | + | 13/13mm | 202ml | 152ml | 40% | Yes | - |
| TPM1 | c.284T>C | p.Val95Ala | NA | 10/10mm | 316ml | 150ml | 35% | Yes | Htx |
| TPM1 | c.829G>A | p.Ala277Thr | - | 7/8mm | 321ml | 72ml | 26% | No | - |
| TPM1 | c.829G>A | p.Ala277Thr | NA | 10/9mm | NA | NA | 35% | No | - |
| MYBPC3 | c.1696T>C | p.Cys566Arg | ++ | 10/10mm | 133ml | 97ml | 18% | Yes | Death |
| MYBPC3 | c.2905C>T | p.Gln969* | + | 12/12mm | 159ml | 139ml | 22% | Yes | Death |
| MYBPC3 | c.2373dup | p.Trp792Valfs*41 | + | 11/11mm | 210ml | 122ml | 41% | Yes | - |
a
See Table S1 for the reference refseq transcripts
+ = Midwall fibrosis; ++ = Extensive fibrosis in whole left ventricle; - = no fibrosis; NA = not available
Abbreviations: PW = posterior wall thickness; IVS = interventricular septum; Htx = heart transplantation