PMC6346415_01
Pedigree of the family and mutation in EMD gene. Sanger sequence revealed a 1-base insertion at c.253 in exon 3 of EMD
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The proband (III.3 in Figure 1), a 50-year-old man, who suffered from occasional palpitations, lower extremities edema and anhelation for over 10 years.
Clinical data of the proband. (a) Electrocardiogram showed atrial fibrillation with second degree atrioventricular block. (b) Chest echocardiography revealed generalized cardiomegaly. (c) Muscle histopathology (x400). HE staining showed mild fiber atrophy with irregular variation in size. (d) Muscle histopathology (x400). The mitochondria of type I and II muscle fiber presented fascicular structures with peripheral particles accumulated
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In the year 2007, he was admitted to the cardiology department at the first time for auriculo-ventricular block (Figure 2a). Echocardiography (Figure 2b) revealed generalized cardiomegaly. Pathological diagnosis showed myogenic damage, which was conformed to myogenic fibrous myopathy (Figure 2c and d).