부산대학교 도서관

Introduction Danon disease is an X-linked multisystemic disorder that predominantly involves the mental retardation, skeletal myopathy, and hypertrophic cardiomyopathy. (1) The gene mutation underlying Danon disease causes a deficiency of [...]
Background Danon disease is an X-linked multisystemic disorder characterized by skeletal myopathy, cardiomyopathy, and intellectual disability. Case summary Herein, we describe two patients affected by Danon disease from the same family, a father (Patient 1) and his daughter (Patient 2). In Patient 1, a short PR interval with pre-excitation was evident. In Patient 2, over a 24-h period 2369 atrial premature beats and rare isolated ventricular ectopics were detected. Both patients exhibited left ventricular hypertrophy with non-compaction myocardium, and the left ventricular ejection fraction was impaired in Patient 1 and normal in Patient 2. In Patient 2, the total left ventricular strain value was reduced, and layer-specific strain revealed that subepicardial strain impaired more than in other layers. Late gadolinium enhancement was detected both in left and right ventricles in Patient 2, and cardiac fibrosis was more apparent in the subepicardium of left ventricular free wall. Four-dimensional (4D) echocardiography revealed that left atrial reservoir strain and left ventricular total longitudinal strain were induced. Discussion Novel 4D echocardiography and left ventricular systolic strain may play important role in diagnosis and myocardial functional evaluation in Danon disease. Keywords 4D echocardiography * Case report * Danon disease * Left ventricular longitudinal strain ESC Curriculum 2.2 Echocardiography * 2.3 Cardiac magnetic resonance