Table 2.
Positive Genetic Testing Results
| Etiology | Phenotype | Age of Cardiac Presentation | Age of Genetic Diagnosis | Gene | Mutation | Positive family history: CM/SCD |
|---|---|---|---|---|---|---|
| Familial | ARVC | 14 | 14 | DSP | R425X | +/+ |
| DCM | 3 | 8 | MYH7 | Q1346X | 0/0 | |
| DCM | 15 | 15 | TNNT2 | K210del | +/0 | |
| HCM | 15 | 15 | ACTC | L10M | 0/0 | |
| HCM | 8 | 14 | MYH7 | R663H | +/+ | |
| HCM | 40 | 40 | MYH7 | L908V | +/0 | |
| HCM | 12 | 12 | MYH7 | R403W | +/0 | |
| HCM | 12 | 12 | MYH7 | G741R | +/0 | |
| HCM | 10 | 14 | MYH7 | G768R | +/+ | |
| HCM | 16 | 16 | MYH7 | V606M | +/0 | |
| HCM | >19 | >19 | MYH7 | R1475C | 0/0 | |
| HCM | 19 | 19 | MYH7 | P710H | +/+ | |
| HCM | 6 | 6 | MYH7 | R403Q | +/+ | |
| HCM | 16 | 16 | MYH7 | V606M | +/0 | |
| HCM | <1 | <1 | MYBPC3 | R502W | +/0 | |
| HCM | 35 | 35 | MYBPC3 | F412fsX1+ R177C | +/+ | |
| HCM | 11 | 11 | MYBPC3 | E258K | +/+ | |
| HCM | <1 | <1 | MYBPC3 | R502W | 0/0 | |
| HCM | 3 | 3 | MYBPC3 | F448S | 0/0 | |
| HCM | 11 | 11 | MYBPC3 | D1064GfsX38 | +/0 | |
| HCM | 8 | 8 | MYBPC3 | D770N | +/0 | |
| RCM | 2 | 3 | MYH7 | G768R | 0/0 | |
| Metabolic | HCM | <1 | 3 |
MTATP6 MTATP8 |
m.8528T>C M1T; W55R |
0/0 |
| HCM | <1 | <1 | GAA | c.1437(+1)G>A+ c.1437(+1)G>A | 0/0 | |
| HCM | <1 | <1 | GAA | R660H+ R854X | 0/0 | |
| HCM | <1 | <1 | GAA | E176RfsX44+ T737N | 0/0 | |
| HCM | <1 | <1 | GAA | E176RfsX44 + E176RfsX44 | 0/0 | |
| Syndromic | HCM | 17 | 9 | Multiple | Deletion 1p36 | 0/0 |
| HCM | <1 | <1 | CHD7 | I1097A | 0/0 | |
| HCM | <1 | <1 | RAF-1 | S257L | 0/0 | |
| HCM | <1 | 15 | PTPN11 | T468M | 0/0 | |
| HCM | 16 | 16 | SOS1 | E846K | 0/0 | |
| HCM | 1 | 3 | PTPN11 | T468M | 0/0 | |
| DCM | <1 | 10 | ALMS1 | Q3495KfsX14 + R2828S | 0/0 | |
| DCM | 15 | 19 | ALMS1 | D2457X + D2459X | +/0 |
Mutations are listed with protein designations except where indicated as cDNA (c.) or mitochondrial DNA (m.) CM = Cardiomyopathy; SCD = Sudden Cardiac Death;