Table 2.
Characteristics and outcomes of DCM families previously described in the literature, carrying the TNNT2 delta K.217 mutation.
| Family | Age at diagnosis | Sex | Presentation | Family characteristics | Mutation confirmed | Outcome (age) |
|---|---|---|---|---|---|---|
| Martins et al.3 | ||||||
| Patient 1 (index) | 25 | ♀ | + | HtX (25) | ||
| Patient 2 (father) | 45 | ♂ | 1 sister + mother died due to HF (both ± 40), 1 sister (53) + 1 brother (27) SCD | NA | Died (53) DCM | |
| Hanson et al.5 | ||||||
| Patient 1 (index) | 59 | ♀ | Maternal grandfather (38) SCD | + | Current age 60 | |
| Patient 2 (mother) | 74 | ♀ | NA | Died (74) due to HF | ||
| Patient 3 (sib) | 16 | ♂ | NA | Died (16) due to HF | ||
| Patient 4 (son) | 20 | ♂ | NA | Died (20) due to HF | ||
| Patient 5 (cousin) | 12 | ♀ | Brother: death (13 months) due to HF | NA | Died (12) | |
| Patient 6 (cousin) | ? | ♂ | + | Asymptomatic, current age 50 | ||
| Kamisago et al. family 17 | ||||||
| Patient 1 (index) | 53 | ♀ | 2 sibs died (1/8 months) CM, 2 sibs of mother (26/27) SCD | + | Current age 59 | |
| Patient 2 (daughter) | 23 | ♀ | + | Current age 29 | ||
| Patient 3 (sib) | 48 | ♂ | + | Current age 51 | ||
| Kamisago et al. family 27 | ||||||
| Patient 1 (index) | 49 | ♀ | 1 daughter died (17) HF, 1 daughter postpartum HF, SCD (19), post-mortem LV and RV dilatation | + | Died (68) CVA | |
| Patient 2 (daughter) | 23 | ♀ | + | Current age 44 | ||
| Patient 3 (grandson) | 14 | ♂ | + | Died (15) due to HF | ||
| Mogensen et al.9 | ||||||
| Patient 1 | 25 | ♂ | Heart failure | + | Died (26) | |
| Patient 2 | 21 | ♂ | + | HtX (22) | ||
| Patient 3 | 35 | ♂ | + | Current age 36 | ||
| Hershberger et al. family 112 | ||||||
| Patient 1 (index) | 31 | ♂ | + | HtX (31) | ||
| Patient 2 (daughter) | 5 | ♀ | NA | Died (5) | ||
| Patient 3 (father) | ? | ♂ | NA | Died (52) | ||
| Hershberger et al. family 212 | ||||||
| Patient 1 (father) | 50 | ♂ | NA | DCM at autopsy (50) | ||
| Patient 2 (sib) | 34 | ♀ | NA | Died (34) after HtX | ||
| Patient 3 (sib) | 37 | ♂ | + | Asymptomatic (50) | ||
| Patient 4 (index) | 26 | ♂ | + | HF | ||
| Hershberger et al. family 312 | ||||||
| Patient 1 | 74 | ♀ | + (oc) | Died | ||
| Patient 2 | ? | ♀ | + (oc) | Died (34) of cancer | ||
| Patient 3 | 59 | ♀ | + | HF | ||
| Patient 4 | 16 | ♂ | NA | Died (16) of HF, DCM at autopsy | ||
| Patient 5 | 52 | ♂ | + | HF | ||
| Patient 6 | 47 | ♂ | + | Asymptomatic | ||
| Patient 7 | 1 | ♂ | NA | Died (1) DCM | ||
| Patient 8 | 12 | ♀ | NA | Died (12) DCM | ||
| Patient 9 | 21 | ♂ | NA | Died (21) DCM |
♀ female, ♂ male, + TNNT2 p.K217del mutation identified, NA=clinical phenotype of DCM but formal mutation analysis not available, oc=obligate carrier, CM=cardiomyopathy, CVA=cerebrovascular accident, HtX=heart transplantation, LV=left ventricle, RV=right ventricle, SCD=sudden cardiac death.