A left ventricular ring-like late gadolinium pattern in a 27-year-old young male with desmin cardiomyopathy

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). Desmin cardiomyopathy is a rare hereditary cardiomyopathy, characterized by cardiac hypertrophy, atrial fibrillation, atrioventricular block, and subclinical or overt myopathy, with generally poor prognosis. Cardiac magnetic resonance, especially LV ring-like pattern, provides important value in the diagnosis and prognosis of desmin cardiomyopathy Recently, the LV ring-like LGE on CMR was reported in patients with FLNC variants,1DSP variants,1 and DES variants.2 The accumulating evidence3–5 implicates that the majority of patients with a LV ring-like LGE pattern present with ventricular arrhythmias and may be at risk for malignant arrhythmic events. The author thanks Qi Chen for patient management and Hui Yan for providing the CMR images. Supplementary data are not available at European Heart Journal online. All authors declare no disclosure of interest for this contribution. The data underlying this article will be shared upon reasonable request to the corresponding author. This work was supported by grants from the Youth Fund of the National Natural Science Foundation of Jiangxi Province (20232BAB216009).