Extract

A 27year-old male was admitted to the emergency room with sudden left leg weakness and palpitations. Electrocardiography revealed atrial fibrillation and complete atrioventricular block (Panel A). Brain diffusion-weighted imaging showed acute ischaemic stroke in the right frontal. Echocardiogram (Panel B) showed biatrial enlargement and impaired right ventricular systolic function (TAPSE 12 mm), with a left ventricular (LV) ejection fraction of 66%. Next-generation sequencing (Panel C) revealed a heterozygous missense variant in the DES gene (NM_001927.4, c.1360C>T, p. Arg454Trp). A dual-chamber pacemaker was implanted 1 week after admission. The subendocardial biopsy showed cytoplasmic deposition of desmin immunoreactive granulofilamentous material (Panel D). Cardiac magnetic resonance (CMR) imaging was performed 6 weeks after pacemaker implantation, revealing biatrial enlargement, diffuse inflammatory abnormalities with elevated T1 values (1489 ms), elevated extracellular volume (43%), and normal T2 values (48 m). Cardiac magnetic resonance imaging showed a "ring-like" late gadolinium enhancement (LGE) pattern in left ventricular myocardium (Panel E).

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