Cardiac abnormalities in carrier (III-2) LAMP2 mutation: (A) Patient’s ECG is registered at age 14, showing normal sinus rhythm, LV hypertrophy and prominent T wave inversion in leads I, V3-V6; (B) Cardiac MRI plan the 4-chamber cine on the long axis image shows LV hypertrophy (maximum septal thickness 17 mm); (C) Cardiac short-axis orientation with two-chamber view image of LV hypertrophy; (D) Late-gadolinium enhancement imaging on the long axis indicates presence of midwall myocardial contrast delay pattern with fibrosis of the anterolateral papillary muscle and anterolateral segments of the LV apex (arrowheads); (E) Tissue LV characteristic: bull’s eye map image demonstrates late gadolinium enhancement (short axis; grade 0-100%).

 
 
  Part of: Sivitskaya L, Vaikhanskaya T, Danilenko N, Liaudanski A, Davydenko O, Zhelev N (2022) New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation. Folia Medica 64(5): 853-862. https://doi.org/10.3897/folmed.64.e66292