From: Exploring digenic inheritance in arrhythmogenic cardiomyopathy
Family | ID | Gender | Age | Physical exercise | Affected by ACM | Type of first symptom | Age at first symptom | Diagnosed ACM mutation | ICD | ACM Therapy | Dysfunction and structural alterations | Tissue characteristic of wall | Repolarization abnormalities | Depolarization or conduction abnormalities | Arrhythmias | Comorbidities |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fam1 | Fam1.I.2 | F | 87 | no | no | – | – | NM_004572.3(PKP2):c.2013delC | no | none | none | n.a. | none | none | none | hypertention |
Fam1.II.1 | M | 70 | no | no | – | – | – | no | none | n.a. | n.a. | none | none | none | hyperlipidemia | |
Fam1.II.2 | F | 67 | no | no | – | – | NM_004572.3(PKP2):c.2013delC | no | none | none | n.a. | minor | none | none | hyperlipidemia | |
Fam1.II.3 | F | 62 | no | no | – | – | – | no | none | n.a. | n.a. | none | none | none | hyperlipidemia | |
Fam1.II.4 | M | 68 | no | no | – | – | – | no | none | n.a. | n.a. | none | none | none | myocardial infarction | |
Fam1.III.1 | M | 39 | yes | no | – | – | NM_004572.3(PKP2):c.2013delC | no | none | none | n.a. | minor | none | none | none | |
Fam1.III.2 | M | 35 | no | yes | VT | 21 | NM_004572.3(PKP2):c.2013delC | yes | Sotalol | major | n.a. | major | major | major | hyperlipidemia | |
Fam1.III.3 | F | 31 | yes | yes | Syncope | 17 | NM_004572.3(PKP2):c.2013delC | yes | Sotalol | major | n.a. | major | none | major | none | |
Fam2 | Fam2.I.1 | M | 67 | no | no | – | – | – | no | none | n.a. | n.a. | none | none | none | none |
Fam2.I.2 | F | 66 | no | no | – | – | NG_009000.1(PKP2):c.2569_2577 + 41del | no | none | none | n.a. | minor | none | none | atrial fibrillation | |
Fam2.II.1 | M | 34 | yes | yes | Syncope | 24 | NG_009000.1(PKP2):c.2569_2577 + 41del | yes | Sotalol | minor | n.a. | major | major | major | none | |
Fam2.II.2 | M | 41 | yes | no | – | – | NG_009000.1(PKP2):c.2569_2577 + 41del | no | none | none | n.a. | none | none | none | none |