case_images: PMC9681897_01
case_images: PMC9681897_02
case_images: Echocardiographic of the patient's heart. The echocardiography revealed EF 29%, left atrial and left ventricle enlargement (left ventricular endomesosomal diameter 63 mm), reduced ventricular wall pulsation diffusion, decreased left ventricular systolic and diastolic function, and trace pericardial effusion.
case_images: fcvm-09-974843-g0001.jpg
case_images: PMC9681897_02_fcvm-09-974843-g0001.jpg
case_images: F1
case_images: During echocardiography (Figure 1), the left ventricular ejection fraction (EF) was 39%, and left ventricle were enlarged (left ventricle endomesosomal diameter was 63 mm), abnormal ventricular movement, decreased left ventricular systolic and diastolic function, weak mitral regurgitation and trace pericardial effusion.
case_images: Gene sequencing results of Sanger method of Duchenne gene mutation in A family [Missense mutation occurred at the 1,207 base of the 11th exon of Duchenne gene in (A) (C.1207 G > T, P.G403x), arrows are the mutation sites, (B-D) are normal phenotypes].
case_images: fcvm-09-974843-g0002.jpg
case_images: PMC9681897_02_fcvm-09-974843-g0002.jpg
case_images: F2
case_images: It was found that neither his parents nor his sister carried heterozygous variation of this locus, and neither of them exhibited any clinical signs of muscular dystrophy (Figure 2).
case_images: The abnormal ECG at the admission in June 2022 (Sinus rhythm and tall R wave in V1V2V3, left anterior branch block).
case_images: fcvm-09-974843-g0003.jpg
case_images: PMC9681897_02_fcvm-09-974843-g0003.jpg
case_images: F3
case_images: The myocardial injury was persistent and troponin did not increase or decrease significantly. 24-h Holter electrocardiography showed a mean heart rate of 86 BPM, occasional premature ventricular contractions in pairs (673), occasional premature atrial contractions, and paroxysmal atrial tachycardia (total > 100 BPM, 283, maximum 6 min) (Figure 3). To treat the condition, the oral drugs were adjusted as hormone (in reduction), coenzyme Q10, trimetazidine and