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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