Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation

Figures

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  Figure 1. Pedigree of case1 (Ⅲ-7) and case2 (Ⅲ-5). Circles represent females, squares males, slash denotes deceased. Black filled symbols indicate individuals with clinical phenotype. PAF, paroxysmal atrial fibrillation; CM, cardiomyopathy; SCD, sudden cardiac death; AVB, atrioventricular block; BBB, bundle branch block; SM, skeletal myopathy; −/+, heterozygous allele; −/−, wild type for both DES alleles. The index patient is marked with an arrow (rhombus symbol indicate male patient).

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  Figure 2. ECG, cardiac MRI, and transthoracic echocardiography results from case 1: (A) transthoracic echocardiography showed no ventricular or atrial dilation. (B) Cardiac MRI showed no perfusion or delayed enhancement abnormalities; (C) ECG showed third-degree atrioventricular block, junctional escape rhythm, and complete right bundle branch block.

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  Figure 3. The MRI results of the upper and lower limbs in case 3. (A) MRI T1-weighted imaging of the thigh in another patient demonstrated selective fatty infiltration in the semitendinosus, sartorius, and gracilis muscles (red arrows). (B) MRI T1-weighted imaging of the lower leg revealed fatty infiltration in the fibularis and soleus muscles (red arrows). (C) MRI T1-weighted imaging of the forearm muscle revealed fatty infiltration (red arrows).

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  Figure 4. Muscle biopsy pathology results from case 3: (A) H&E staining (×100) showed marked variation in fiber size, irregular morphology, and numerous hypertrophic and split fibers, with purplish-red deposits in some fibers (black arrow). (B) MGT (×100) revealed abnormal deposits in some fibers (black arrow). (C) Desmin (×100) was positive (black arrow).