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Figure 1
Pedigree. Marked with black arrowhead - the index case. Marked with red – members known as positive for GLA mutation. Green square - genetically tested, non-carrier of the GLA mutation. Blue stars - SCD in sleep.
Figure 2
Panel A. Electrocardiogram: short PR interval with slight septal preexcitation appereance, right bundle branch block (more obvious when premature atrial beat occurs – 4th QRS complex), left ventricular hypertrophy voltage criteria with deep inverted T waves in the precordial leads suggestive of apical HCM. Panel B. ECG Holter: 2nd QRS complex is a junctional escape beat (often seen in Fabry disease) followed by marked sinus bradycardia.
Figure 1
Transthoracic echocardiography. Basal anterior septum and posterior wall measurements in panels A. Parasternal long axis view (PLAX) and B. Parasternal short axis at mitral valve level (PSAX- MV). C. Apical four chamber view (A4C) measurements of apical inferior septum and anterolateral wall (maximum thickness 15 mm). D. Myocardial deformation imaging. Longitudinal strain bull’s eye plot showing a reduced global longitudinal strain (−13.5%) with lowest segmental values in septal and inferior segments.