Table 1.
Genetic and phenotypic characteristics of patients.
| Pt.1 | Pt.2 | Pt.3 | Pt.4 | Pt.5 | Pt.6 | Pt.7 | Pt.8 | Pt.9 | Pt.10 | Pt.11 | Pt.12 | Pt.13 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender | m | m | m | m | m | m | m | f | f | f | f | f | m |
| Phenotype | RV | RV | RV | RV | RV | LV | LV | LV | BV | BV | BV | BV | LV |
| Genotype | RYR2 LP | PKP2/PKP2 LP/LP | PKP2 LP | SYNE1 VUS | DSG2 P | DSP/DSP P/P | FLNC VUS | JUP VUS | MYH7/FKTN/ANK2 P/VUS/VUS | PKP2/PKP2 LP/VUS | PKP2/PKP2 LP/P | DSP VUS | SCN5A/ANK2 P/VUS |
| Outcome | - | ICD | ICD HT | - | ICD | ICD | ICD | - | ICD HT | ICD HT | ICD | - | - |
| Age at diagnosis (years) | 12 | 17 | 15 | 16 | 13 | 5 | 17 | 17 | 16 | 13 | 8 | 12 | 16 |
| Age at first symptoms | 11 | 15 | 14 | 12 | 13 | 4 | 14 | 17 | 12 | 12 | 4 | 12 | 16 |
| Family histoty | |||||||||||||
| SDD | - | Maternal grandfather | Father | - | - | - | Father | - | - | - | - | - | - |
| Phenotype of parents | n/a | - | n/a | n/a | n/a | - | n/a | n/a | - | - | - | n/a | n/a |
| Genotype of parents | n/a | Mother PKP2 Father PKP2 | n/a | n/a | n/a | n/a | n/a | n/a | n/a | Mother PKP2 | Mother PKP2 Father PKP2 | n/a | n/a |
| First symptoms | |||||||||||||
| Syncope | + | − | + | − | − | − | + | + | − | − | − | + | − |
| Palpitations | − | + | − | − | − | − | − | − | + | + | + | − | + |
| Chest pain | − | − | − | + | + | − | − | + | + | + | − | − | − |
| “Hot phase” | − | − | − | + | + | − | − | + | + | + | − | − | − |
| Functional class of heart failure (at the first admission) | II | - | II | II | II | II | II | - | II | II | II | II | - |
| ECG anomalies | |||||||||||||
| Negantive T wave in V1–V3 | − | − | − | − | − | − | − | − | + | − | − | − | − |
| Epsilon wave | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Late potentials | + | + | − | + | + | − | − | + | + | − | + | + | + |
| >500 PVCs/24 h | + | + | + | + | + | + | + | + | + | + | + | + | + |
| VT | + | + | + | − | + | + | − | − | + | + | + | + | + |
| VT polymorphic | + | − | + | − | − | + | − | − | − | + | + | − | + |
| Echocardiographic findings | |||||||||||||
| RV dilatation | + | + | + | − | + | − | − | − | + | + | + | + | − |
| LV dilatation | − | − | − | + | − | + | + | + | + | + | + | − | + |
| Aneurysm of RV and LV | − | − | − | − | − | − | − | − | + | + | − | − | − |
| CMR features | |||||||||||||
| RV dysfunction | + | − | n/a | − | + | − | − | − | + Aneurysm |
n/a | + Aneurysm |
n/a | n/a |
| LV dysfuction | − | − | n/a | − | − | + | + | − | + | n/a | − | n/a | n/a |
| Fibrosis (LGE) | + | − | n/a | − | + | + | + | − | + | n/a | + | n/a | n/a |
BV, biventricular; f, female; HT, heart transplantation; ICD, implantable cardioverter-defibrillator; LV, left ventricle; CMR, magnetic resonance imaging; PVCs, premature ventricular complexes; RV, right ventricle; SDD, sudden cardiac death; VT, ventricular tachycardia; n/a, not available or not performed; P, pathogenic; LP, likely pathogenic; VUS, variant of unknown significance.