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Table 1 Clinical characteristics of studied individualsa

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
  1. aIndividuals classified as they reach major or minor diagnostic criteria [18]
  2. n.a.: not available; VT: Ventricular Tachycardia; ICD: implantable cardioverter defibrillator; Athletic lifestyle: defined as intense sportive activity more than 3 times a week