Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations

Figures

• 

  Figure 1. Recordings from 12-lead ECG (25 mm/s, 10 mm/mV) (top left) and signal-averaged ECG (filter 40–250 Hz) (top right) of a 12-year-old JUP homozygous carrier (see Supplementary material online, Table S3, Case 73) presenting >1000/24 h ventricular extrasystoles. There is prolonged terminal activation duration (58 ms) in lead V1 and all three parameters for late potentials are abnormal (filtered QRS duration = 125 ms, LAS = 42 ms, RMS = 11 μV). Two-dimensional echocardiographic images on parasternal long axis view (middle left) and apical four-chamber view (middle right). There are no morphological/functional abnormalities of the right and left ventricle; right ventricular end-diastolic diameters at outflow tract (RVOT) and inflow tract (RVIT) were within normal limits (corrected for body surface area, 14 and 21 mm/m2, respectively). The boy shows the Naxos cutaneous phenotype (woolly hair and palmoplantar keratoderma) (bottom).

• 

  Figure 2. Recordings from 12-lead ECG (25 mm/s, 10 mm/mV) of a 24-year-old desmoplakin mutation carrier (see Supplementary material online, Table S3, Case 29) not diagnosed with original Task Force Criteria. During sinus rhythm (top) there is low voltage, T-wave inversion in leads V1 (−0.7 mm) and V2 (−0.2 mm), normal QRS complex width (≤100 ms) in leads V1 to V3, and prolonged TAD (56 ms) in lead V2. She presented sustained ventricular tachycardia of left bundle branch block morphology with superior axis (bottom) but she did not fulfil echocardiographic criteria.

• 

  Figure 3. Recording from 12-lead ECG (25 mm/s, 10 mm/mV) (top) of a 18-year-old PKP2 mutation carrier (see Supplementary material online, Table S3, Case 13) shortly before he died suddenly during sport activity. He presented >1000/24 h ventricular extrasystoles but he did not fulfil echocardiographic criteria. There is T-wave inversion in leads V1 to V4 and flattening in V5 and V6; abnormal Q waves are observed in inferolateral leads. Autopsy samples (bottom) reveal mild fibro-fatty replacement of the right ventricular myocardium (RV), with predominant involvement of the left ventricular myocardium (LV), with a subepicardial and midmural distribution and a preserved wall thickness (Heidenhain's trichrome stain).

• 

  Figure 4. The Kaplan–Meier survival curves for cumulative survival (left) and event-free survival (right) in dominant (D) (solid line) and recessive (R) (dotted line) affected carriers.