NO. | Diagnosis | Gene (site) | Amino acid (clinical significance) | Carrier | NYHA class | Follow-up (months) | Prognosis | |
---|---|---|---|---|---|---|---|---|
Pre-catechin | Post-catechin | |||||||
1 | HCM | MYH7 (761C > A) | Ala254Glu (VUS) | Noneb | III | II | 7 | Died (SD) |
2 | HCM | MYH7 (2464A > G) | Met822Val (Pathogenic) | None | III | II | 27 | Alive |
3 | HCM | MYH6 (3640C > T) RAF1 (775 T > A) | Arg1214Trp (VUS) Ser259Thr (Pathogenic) | Mother None | III | II | 24 | Alive |
4 | HCM | TPM1 (900-4G > A) RAF1 (770C > T) | Splicing (VUS)Ser257Leu (Pathogenic) | Mother None | IV | IV | 4 | Died (HF) |
5 | HCM | NEXN (835C > T) | Arg279Cys (VUS) | Father | III | II | 12 | Alive |
6 | RCM | TNNI3 (574C > T) | Arg192Cys (Pathogenic) | None | IV | II | 24 | Alive |
7 | RCM | PKP2 (2246C > A) TNNI3 (575G > A) | Ala749Asp (Pathogenic) Arg192His (Pathogenic) | None None | III | II | 16 | Alive |
8 | RCM | DSP (4943A > G) DSP (6223C > T) ILK (707A > G) | Gln1648Arg (VUS) Arg2075Trp (VUS) Asn236Ser (VUS) | Father Mother Mother | IV | IV | 4 | Died (HF) |
9 | RCM | MYH7 (3854-5C > T) | Splicing (VUS) | None | III | II | 21 | Alive |
10 | RCM | Undetecteda | Undetected | / | IV | III | 27 | Alive |
11 | RCM | Undetected | Undetected | / | III | II | 14 | Alive |
12 | RCM | Undetected | Undetected | / | III | II | 13 | Alive |