General Introduction and Thesis Outline | 13 Currently, life-long follow-up with intervals of 2-3 years is recommended in all family members at risk.18 The diagnostic framework is provided by the 2010 TFC and requires frequent ECG and Holter monitoring and repeated cardiac imaging with CMR or echocardiography. However, since disease manifestation in family members may be subtle, conventional diagnostics included in the 2010 TFC may lack sensitivity to reveal the earliest structural and functional changes. Table 1. 2010 Task Force criteria proposed by Marcus et al13 Global or regional dysfunction and structural alterations 2D-echo Major Presence of a regional RV akinesia, dyskinesia, or aneurysm and 1 of the following (enddiastole) • PLAX RVOT ≥ 32 mm (corrected for BSA: PLAX RVOT/BSA ≥ 19 mm/m2) or • PSAX RVOT ≥ 36 mm (corrected for BSA: PLAX RVOT/BSA ≥ 21 mm/m2) or • RV-FAC ≤ 33% Minor Presence of a regional RV akinesia, dyskinesia, or aneurysm and 1 of the following (enddiastole): • PLAX RVOT ≥29 to < 32 mm (corrected for BSA: PLAX RVOT/BSA ≥16 to < 19 mm/m2) or • PSAX RVOT ≥ 32 to < 36 mm (corrected for BSA: PSAX RVOT ≥ 18 to < 21 mm/m2) or • RV-FAC > 33% to ≤ 40% MRI Major Presence of a regional RV akinesia or dyskinesia, or dyssynchronous RV contraction and 1 of the following: • Ratio of RV-EDV to BSA ≥ 110 ml/m2 (male) ≥ 100 ml/m2 (female) or • RVEF ≤ 40% Minor Presence of a regional RV akinesia or dyskinesia, or dyssynchronous RV contraction and 1 of the following: • Ratio of RV-EDV to BSA ≥100 < 110 ml/m2 (male) ≥ 90 to < 100 ml/m2 (female) or • RVEF > 40% to ≤ 45% RV angiography Major Presence of regional RV akinesia, dyskinesia, or aneurysm Tissue characterization Major Residual myocytes < 60% by morphometric analysis (or < 50% if estimated), with fibrous replacement of the RV free wall myocardium in ≥1 sample, with or without fatty replacement of tissue on endomyocardial biopsy Minor Residual myocytes 60-75% by morphometric analysis (or 50% to 65% if estimated), with fibrous replacement of the RV free wall myocardium in ≥1 sample, with or without fatty replacement of tissue on endomyocardial biopsy Repolarization abnormalities (ECG) Major Inverted T waves in right precordial leads (V1, V2, and V3) or beyond in individuals >14 years of age (in the absence of complete RBBB QRS ≥ 120 ms) Minor Inverted T waves in leads V1 and V2 in individuals >14 years of age (in the absence of complete RBBB) or Inverted T waves in leads in V4-V6 or Inverted T waves in leads V1-V4 in individuals >14 years of age in the presence of complete RBBB 1
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