Figure 7.

Example of a boy with Naxos disease, homozygous for a pathogenic JUP variant, on regular follow-up since the age of 1 year old. He was asymptomatic until the age of 14 years when he was admitted with chest pain, increased troponin-I levels up to 20 μg/L (normal values: 0.04 μg/L), complex ventricular extrasystoles and changes on 12-lead ECG. (A) ECG recordings in 25 mm/s, 10 mm/mV, at the first (1D), second (2D), third (3D) and eighth (8D) days of hospitalization. Newly developed repolarization changes are observed. (B) Phase-sensitive inversion recovery CMR images to detect LGE 1 year prior to hospitalization (left) and the second day of hospitalization (right) are shown. No functional changes were observed on either CMR in both ventricles (i.e., normal LV and RV function). However, LGE was detected (arrow) in the LV myocardium (right) as compared to the isolated involvement of RV free wall, a year previously (left), suggesting progression of disease. CMR, cardiac magnetic resonance; ECG, electrocardiogram; LGE, late gadolinium enhancement; LV, left ventricular; RV, right ventricular. Source: (69), obtained with permission.